EDITORPeter H. Byers, M.D.University of Washington

School of MedicineSeattle, WA

MANAGING EDITORRoberta WilkesUniversity of WashingtonSeattle, WA

ASSISTANT MANAGING EDITORPatricia BaskinUniversity of WashingtonSeattle, WA

ASSOCIATE EDITORS

Anne M. Bowcock, Ph.D.University of Texas SouthwesternMedical Center

Dallas, TX

Thomas W. Glover, Ph.D.University of MichiganAnn Arbor, MlMarkus Grompe, M.D.Oregon Health Sciences

UniversityPortland, ORLynn Jorde, Ph.D.University of UtahSchool of Medicine

Salt Lake City, UT

Mary-Claire King, Ph.D.University of WashingtonSeattle, WA

James R. Lupski, M.D., Ph.D.Baylor College of MedicineHouston, TX

Roderick R. McInnes, M.D., Ph.D.The Hospital for Sick ChildrenToronto, Ontario

Kenneth Morgan, Ph.D.McGill UniversityMontreal, Quebec

Roberta A. Pagon, M.D.University of WashingtonSeattle, WABarbara 1. Trask, Ph.D.University of WashingtonSeattle, WAJames L. Weber, Ph.D.Marshfield Medical Research

FoundationMarshfield, WIDaniel E. Weeks, Ph.D.University of PittsburghPittsburgh, PAThe Wellcome Trust Centre forHuman Genetics

Oxford

Business communications in connection with nonmember subscriptions and advertising should be addressed to the publisher: The Universityof Chicago Press, Journals Division, 5720 South Woodlawn, Chicago, IL 60637. FAX: .(312)753-0811. E-mail: subscriptions@journals.uchicago.edu Remittance for nonmember subscription is payable to the publisher on a calendar-year basis. For domestic nonmember individualsand institutions, the single-copy rate is $27.10 and the calendar-year rate is $325.00; for foreign nonmember individuals and institutions, thesingle-copy rate is $27.10 (U.S. currency) and the calendar-year rate is $325.00 (U.S. currency); the calendar-year rate for Canadian citizens,which includes GST, is $347.75 (U.S. currency). Subscription agent for Japan: Kinokuniya Company, Ltd. Individuals have the option to orderdirectly from The University of Chicago Press. Nonmembers in other countries add the following rates for each year's subscription to coverpostage: Surface mail-$24.00; Airmail: Canada and Mexico-$63.00; Central America-$72.00; Europe, North Africa, and South America-$99.00; all other countries (including Africa, Asia, Australia, Near and Middle East, Oceania, and the Commonwealth of Independent States)-$131.00. Postmaster: send address changes to The American Journal of Human Genetics, The University of Chicago Press, Journals Division,P.O. Box 37005, Chicago, IL 60637. Advertising space in The American Journal of Human Genetics is available, as is rental of its subscriberlist. For information and rates, please contact the advertising sales staff, The University of Chicago Press, Journals Division, 5720 SouthWoodlawn Avenue, Chicago, IL 60637. Advertising and list rental is limited to material of professional interest to our subscribers and doesnot imply endorsement by The University of Chicago Press or by The American Society of Human Genetics.Memberships.-Student subscriptions are accepted only via membership. For student and all other membership information, contact theAdministrative Office, The American Society of Human Genetics, 9650 Rockville Pike, Bethesda, MD 20814; phone (301)571-1825. A member-

ship application and dues schedule appear at the back of each issue of the Journal. Notice of change of address, which should include themember's old and new addresses, should be sent to the administrative office at least 30 days before the date of the issue for which the changeis to be effective.

Correspondence concerning editorial matters should be directed to the Editor (see Information for Contributors in this issue).Copying Beyond Fair Use.-The code on the first page of an article in this journal indicates the copyright owner's consent that copies ofthe article may be made beyond those permitted by Sections 107 and 108 of the U.S. Copyright Law, provided that copies are made only forpersonal or internal use or for the personal or internal use of specific clients and provided that the copier pay the stated per-copy fee throughthe Copyright Clearance Center, Inc., 27 Congress Street, Salem, MA 01970. To request permission for other kinds of copying, such as copyingfor general distribution, for advertising or promotional purposes, for creating new collective works, or for resale, kindly write to PermissionsDepartment, The University of Chicago Press, 5801 South Ellis Avenue, Chicago, IL 60637. If no code appears on the first page of an article,permission to reprint may be obtained only from the author.Back issues are available from 1985 (vol. 37). Complete volumes are available in microfiche from Kraus Reprint and Periodicals, Route 100,Millwood, NY 10546. Complete volumes and individual issues are available in microform from University Microfilms International, 300 NorthZeeb Road, Ann Arbor, MI 48106; phone (313)761-4700.Cover photography: DNA helix, computer generated by MIDAS, provided by Robert Langridge, University of California, San Francisco.Copyright by the Regents of the University of California.The American Journal of Human Genetics (ISSN 0002-9297) is published monthly at 5720 South Woodlawn Avenue, Chicago, IL 60637.Periodicals postage is paid at Chicago, IL, and at additional mailing offices. by The American Society of Human Genetics. All rights reserved.

Am. J. Hum. Genet. 59:i-ii, 1996

This Month in the JournalHuman PAF-2 in Zellweger Syndrome, by Fukuda etal. (p. 1210)Zellweger syndrome results from metabolic defects inlipid metabolism and oxidative biochemistry, conse-quences of the complete absence of peroxisomes. Thebiosynthesis of peroxisomes has been studied extensivelyin cultured cell systems, and a large number of mutanthuman and hamster cell lines are available that lack thisorganelle. Tsukamoto and colleagues previously re-ported cloning a rat gene for peroxisome assembly fac-tor-2 (PAF-2), which restores peroxisome function inone of these cell lines. Now the same group reports thecloning and localization of the human homologue ofthis gene. They find two mutations in PAF-2 in patientswith the group C form of Zellweger syndrome.COL4A5 Mutations in Alport Syndrome, byKnebelmann et al. (p. 1221)The glomerular basement membrane (GBM), an extra-cellular structure required for normal kidney function,owes its unusual filtration properties to its distinctivecomposition. Mutations in genes for the type IV collagenchains a3(IV), a4(IV), and a5(IV) lead to Alport syn-drome (progressive renal failure and hearing loss, oftenassociated with ocular defects) as a result of alterationsin basement membranes. Here, Knebelmann et al. haveidentified 64 mutations in the COL4AS gene in a groupof individuals with X-linked Alport syndrome. In someof these individuals, the GBM does not stain for any ofthese three collagen chains, consistent with an essentialrole for ac5(IV) in forming the type IV collagen networkin this structure.Age and Origin of HNPCC Mutations, by Moisio et al.(p. 1243)Hereditary nonpolyposis colon cancer (HNPCC) islinked to genes encoding DNA repair genes, MLH1,MSH2, PMS1, and PMS2. In Finns, a modern popula-tion that originated from a much smaller group 100generations ago, HNPCC arises from mutations only inthe MLH1 gene. Now Moisio and colleagues show thattwo distinct lesions in this gene account for all knownFinnish cases, and they define highly conserved haplo-types associated with each of these mutations. The de-gree of linkage disequilibrium for each haplotype allowsthe authors to reconstruct the history of the two diseasealleles in the Finnish population.

1996 by The American Society of Human Genetics. All rights reserved.0002-9297/96/5906-0001$02.00

Transmission of FMR1 CGG Repeat, by Nolin et al.(p. 1252)Trinucleotide repeat sequences of >90 triplets at theFMR1 locus generally undergo expansion as they aretransmitted from parent to child, with mental retarda-tion seen in the offspring. Tracts of

Am. J. Hum. Genet. 59:i-ii, 1996

Four of the twin pairs do show significant heteroplasmy,with concordant levels of the variant sequences betweenMZ twins. Because the extent of heteroplasmy variesamong the offspring of individual mothers in the study,the authors suggest that the bottleneck that restricts mi-tochondrial transmission in each ovum normally fallswithin a specified size range but may be quite wide incertain instances. These results raise anew the issue ofhow bottleneck size is established.EGF Exclusion and Mapping Rieger Syndrome Locus,by Semina et al. (p. 1288); and Closing in on theRieger Syndrome Gene, by Datson et al. (p. 1297)Two papers in this issue of the Journal provide a satis-fying example of a cooperative effort using complemen-tary approaches to map a gene. Previous work hadlinked Rieger syndrome, a dominant disorder of eye andtooth development, to 4q25, in the vicinity of epidermalgrowth factor (EGF), a plausible candidate gene. Now,however, Semina and colleagues exclude this locus bothby studying the structure of EGF exons by SSCP and bydefining reciprocal translocation breakpoints in Riegerpatients. The region affected by the two breakpointsnarrows the search for the Rieger syndrome gene to - 50kb. Similarly, Datson and colleagues, making use of thesame patients' chromosomes, develop a YAC-based,cosmid-based contig of the candidate region. Using thefiberFISH technique on cell lines bearing the transloca-tions, they identify a cosmid that carries the 50-kb re-gion with the two translocation breakpoints. At the1996 ASHG meeting, these same groups reported thecloning of the Reiger gene, which encodes a novel ho-meodomain-containing protein.Iridogoniodysgenesis Maps to 6p25, by Mears et al.(p. 1321)Autosomal dominant iridogoniodysgenesis anomaly(IGDA) is an eye disorder that arises from abnormaldevelopment of neural crest cells and leads to malforma-tion of one or more ocular tissues. Here, Mears et al.present linkage analysis of IGDA in two families. Afterexcluding a number of candidate genes and performinga genomewide scan for linkage, they identify a locus at6p25 that is tightly linked to the disorder. Since thissame region is affected in other disorders of eye morpho-genesis, it seems likely that a gene or genes near thislocus play a critical role in neural crest growth or differ-entiation in the developing eye.Refinement of the SCA7 Locus, by David et al.(p. 1328)David et al. report parent-of-origin effects in the transmis-sion of an autosomal dominant cerebral ataxia in two

families. They suggest that this disease displays anticipa-tion, with earlier age at onset and more rapid progressionin later generations, particularly when the disease allele istransmitted paternally. These workers also confirm theearlier mapping of the disorder to the SCA7 locus on chro-mosome 3p and narrow the linkage to a region of 5 cMcontained entirely in a single 660-kb YAC clone. The factthat this small physical region of the chromosome repre-sents such a significant distance along a recombinationalmap suggests that a hot spot for meiotic recombinationresides in or near SCA7. For a discussion of recombina-tional hot spots, see the editorial by Robinson (p. 1175).

mtDNA in Linguistic Isolates, by Stenico et al.(p. 1363)Stenico et al. report on mtDNA sequence diversity inisolated populations in the Italian Alps. Among Europe-ans in general, mtDNA polymorphisms tend to be di-verse within single populations, but variability in theoverall distribution of polymorphisms among groups ismodest. This holds true among these Alpine peoples aswell, with the two exceptions documented here. TheMocheni, speakers of a language related to an earlyBavarian dialect, are clearly a distinct group by this mea-sure. Speakers of Ladin, a Romance language, likewisecarry polymorphisms that are distinct from the usualEuropean repertoire. Ladin speakers are also unusualin that they show little intragroup variability, whereasspeakers of Romansch, a language closely allied withLadin, fall within the general European pattern ofmtDNA diversity. The authors discuss their results inlight of anthropological and historical evidence on thepeopling of the Alps.

Using DSPs to Map Quantitative Traits, by Rogus andKrolewski (p. 1376)Sib-pair analysis, a powerful statistical tool in gene map-ping, can be conducted in either of two ways. In affected-sib-pair analysis (ASP), shared haplotypes are used toidentify loci likely to be linked to the gene of interest. Indiscordant-sib-pair (DSP) analysis, one uses the same datato exclude the possibility of linkage. In this paper, Rogusand Krolewski discuss factors that can make DSP analysismore powerful than ASP analysis. They consider issues ofpenetrance, the mode of transmission, and the possibilityof nongenetic phenocopies of the trait. The authors arguethat linkage of insulin-dependent diabetes mellitus maybe a suitable subject for DSP analysis.

JOHN ASHKENASEditorial Fellow

11

Announcements'

EMPLOYMENT OPPORTUNITY

Research Geneticist.-The Division of Medical Genet-ics, Department of Pediatrics, The University of TexasHouston Health Science Center, seeks applications forthe position of research geneticist. Candidates shoulddemonstrate excellence in research, patient care, andteaching. Laboratory space and initial support will beavailable to the individual willing to establish an inde-pendent research program. A vigorous externally fundedprogram is expected. Opportunities exist within the divi-sion for collaboration with an energetic research team;existing research programs in the institution include mo-lecular genetics, cytogenetics, and population genetics.Requirements for the position include an M.D. andboard certification/board eligibility in pediatrics andclinical genetics. BC/BE in biochemical genetics is de-sired but not essential. Candidates will be recruited atthe assistant-/associate-professor level. Interested appli-cants should send letters of inquiry, including a state-ment of interest and curriculum vitae, to Dr. HopeNorthrup, Division of Medical Genetics, Department ofPediatrics, University of Texas-Houston Health Sci-ence Center, 6431 Fannin Street, Houston, TX 77030;phone (713) 792-5330, extension 3060. The Universityof Texas is an Equal Opportunity Employer. Womenand minorities are encouraged to apply.

CONFERENCES

Seventh Biennial Southern African Society of HumanGenetics Congress.-To be held May 18-21, 1997, at

1. Announcements are published free of charge for members of TheAmerican Society of Human Genetics (ASHG). Please mail announcementsto The American Journal of Human Genetics, Department of Pathology,Box 357470, University of Washington, Seattle, WA 98195-7470, or faxthem to (206) 685-9684. Submission must be received 3 full months beforethe month of issue in which publication is requested. They must be doublespaced with a 1 '/2-inch margin on all sides. The maximum length is 150words, excluding the address for correspondence. Please include a coverletter indicating the name of the sponsoring ASHG member.

Kwa Maritane, Pilanesberg National Park, South Africa.The conference is hosted by the University of the Witwa-tersrand, Johannesburg. Congress sessions will covertopics such as the Human Genome Project, positionalcloning, mutation detection, DNA diagnosis, geneticcounseling and prenatal diagnosis, clinical genetics, can-cer genetics, FISH and cytogenetics, and population ge-netics. The abstract deadline is February 15, 1997. Formore information, contact Robbie Cameron, P.O. Box3390, Parklands 2121, South Africa; phone 27 11 4476515; fax 27 11 447 5559; E-mail: robbie.cameron@pixie.co.za

First International Symposium on the Biology of Verte-brate Sex Determination.-To be held April 7-11,1997, at the Outrigger Prince Kuhio Hotel in Honolulu.This conference will cover sex determination in fish, am-phibians, reptiles, birds, and mammals. Invited-speakertopics include genetic and environmental determinantsof sex, sex-determining gene expression and hormonalcontrol of gene expression, X inactivation and genomicimprinting, and SOX 9 and SRY gene expression. Theabstract dealine and early-registration deadline is Janu-ary 31, 1997. For information, contact Dr. Mark Bo-gart, Mid-Pacific Genetics, Inc., 1010 South King Street#201, Honolulu, HI 96814; phone (808) 591-1183;fax (808) 593-1807; E-mail: 102634.3156@compu-serve.com or Dr. Valentine Lance, Center for Reproduc-tion of Endangered Species, Zoological Society of SanDiego, P.O. Box 551, San Diego, CA 92112; phone(619) 557-3944; fax (619) 557-3959; E-mail: lvalenti@sunstroke.sdsu.edu

COURSE

Course in Genetic Analysis Methods for Medical Re-searchers.-To be held May 4-7, 1997, at the R. DavidThomas Center, Duke University, Durham, NC. Thisintensive 4-day course centers on mapping human ge-netic diseases, with emphasis on the mapping of com-

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Announcements

plex/common disease phenotypes. The curriculum cov-ers the entire disease-mapping process: developing andintegrating clinical classification, pedigree collection,statistical genetics, and molecular analysis. The courseemphasizes the global decision-making process andoverall study design. The deadline for applications isFebruary 1, 1997. For information, write to Dr. Marga-ret A. Pericak-Vance, Box 2900, Duke University Medi-cal Center, Durham, NC 27710-0001, or contact Ms.Valorie Roberts, Course Administrator, phone (919)684-6274.

MUTANT-CELL REPOsrrORY CATALOG

NIGMS Human Genetic Mutant Cell Repository WWWCatalog.-To provide investigators with access to themost up-to-date information and complete listings ofcell cultures and DNA samples, a World Wide Web

version of the NIGMS Human Genetic Mutant Cell Re-pository catalog is now available (http://arginine.umdnj.edu/coriell/nigms.htm). The repository has hu-man cell cultures available in the following categories:inherited metabolic disorders, biochemically mutant cellcultures with characterized mutations, well-character-ized chromosomally aberrant cell cultures, CEPH refer-ence families, a human-diversity collection, and human/rodent somatic-cell hybrid mapping panels. Menus areprovided to allow users to search for cell cultures orDNA samples in a variety of ways, including repositorynumber, MIM number, disease description, and chro-mosome abnormality and number. Chromosome ideo-grams are provided for human/rodent somatic-cell hy-brids. Questions about the catalog should be directedto Coriell Cell Repositories, Coriell Institute for MedicalResearch, 401 Haddon Avenue, Camden, NJ 08103;phone (800) 752-3805 in the United States, (609) 757-4848 from other countries; fax (609) 757-9737; E-mail:ccr@arginine.umdnj.edu

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American Board of Medical Genetics DiplomatesThe American Board of Medical Genetics is pleased to announce the diplomates certified in 1996.

Clinical Geneticists (123)Amalfitano, AndreaAngle, BradArtigas-Lopez, MercedesBaggot, Patrick J.Bellus, Gary A.Bernhard, Lisa M.Bhatt, Sucheta D.Braverman, Nancy E.Calikoglu, Muge G.Charlton, Philippa A.Chueh, Jane T.Cohn, Gabriel M.Cox, Gerald F.Cronin, John E.Decker-Phillips, Martha L.Descartes, MariaDinulos, Mary Beth P.Diukman, RonyDomek, David B.Dugoff, LorraineEchiverri, SusanEsters, Danielle BlakeFisher, Allan J.Friedman, Barbara D.Geer, Joseph S., Jr.Ginsburg, DavidGlass, Ian A.Gottesman, Gary S.Greally, John M.Gregg, Anthony R.Gross, Susan J.Ho, Nicola C. Y.Hopkin, Robert J.Horwitz, Marshall S.Hume, Roderick F., Jr.Huq, A. H. M. M.Jayakar, Parul BhagwatiJohnson, Mark D.Jones, Carolyn H.Jonsson, Jon J.Kanis, Adam B.Keppler-Noreuil, Kim M.Kimonis, Virginia E.Kirshman, RositaKishnani, Priya SunilKochanek, StefanKoeberl, Dwight D.Kosaki, KenjiroKrakow, DeborahKrantz, Ian D.Kronn, David F.

Leduc, Xuanto NguyenLeonard, Norma JeanLeslie, Nancy D.Levy-Lahad, EphratLongo, NicolaMacDonald, Madeleine R.Macri, Charles J.Maher, Joseph F.Manea, Susan R.Marazzo, Donald P.Marble, Michael R.Martin, Kimberly A.McLean, Lynn K.Menasse-Palmer, LisaMortier, Geert R.Mulla, Wadia R.Netzloff, MichaelNeufeld, Ellis J.Nowak, Catherine B.Orr-Urtreger, AviPappas, John G.Pearson, Margaret A.Pellegrino, Joan E.Peoples, Risa J.Perez Jurado, LuisPorter, Forbes D.Potocki, LorrainePowell, Berkley R.Prasad, ChitraPridjian, GabriellaPrzylepa, Kelly A.Quackenbush, Elizabeth J.Raff, Michael L.Rahbeeni, ZuhairRasmussen, Sonja A.Reish, Orit SofferReitnauer, Pamela J.Roberts, Helen E.Robin, Nathaniel H.Roeder, Elizabeth R.Rossiter, Judith PrattRubinstein, Wendy S.Salbert, Bonnie AnneSchanen, N. CarolynSchimmenti, Lisa A.Schmidt, Karen R.Shashi, VandanaSheikh, Asad U.Spiro, Rhona P.Stone, Deborah L.Stratakis, Constantine A.Sutphen, Rebecca

Sweetser, David A.Tezcan, KamerTheda, ChristianeTheodoropoulos, DemetriosThomas, Janet A.Thompson, Katherine HegmannTorres-Martinez, WilfredoTowner, Dena R.Tse, William T.Van Den Veyver, IgnatiaVelsher, LeaWahl, Matthew I.Wallerstein, Robert J.Watson, Kathryn R.Weaver, Christine A.Weinreb, AriWeitzel, Jeffrey N.Whelan, Alison J.Williams, Marc S.Yano, Shoji

Clinical Biochemical Geneticists (22)Almashanu, ShlomoBraverman, Nancy E.Cox, Gerald F.Dougherty, Frances E.Gibson, James B.Huang, William Y.Kimonis, Virginia E.Kishnani, Priya SunilLeslie, Nancy D.Levy, Paul A.Marsden, Deborah LouiseMcDowell, Geraldine A.Prasad, ChitraPrence, Elizabeth M.Rahbeeni, ZuhairRoessler, ErichSweetser, David A.Thomas. Janet A.Wilcox, William R.Wong, Lee-Jun C.Yano, ShojiZinn, Arthur B.

Clinical Cytogeneticists (66)Bacino, Carlos A.Brock, Jo-Ann K.Christian, Susan L.Cotter, Philip D.Cronin, John E.Curtis, Christine A.

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ABMG Diplomates

Dinulos, Mary Beth P.Doheny, Kimberly F.Dowling, Patricia K.Dupont, Barbara R.Elsobky, Ezzat S.Fan, Yao-ShanFink, James M.Flejter, Wendy L.Gagos, SarantisGoodman, Barbara K.Gopal Rao, V. N. VelagaletiHabibian, Rezvan S.Harrison, Kathleen J.Hauge, XueyaHeard, Nancy L.Huang, BingJones, Carolyn H.Joseph, Pushpa A.Kaiser-Rogers, KathleenKrantz, Ian D.Kulharya, Anita S.Leana-Cox, JulieLi, Marilyn MengrongLi, ShiboLi, XuLu, GuohuiMaiwald, RobertMathew, SusanMcMilin, Kenneth D.Micale, Mark A.Miron, Patricia M.Mowery-Rushton, PatriciaMulla, Wadia R.Murata-Collins, Joyce L.Nemana, Lakshmi J.Opheim, Kent E.Pellegrino, Joan E.Persons, Diane L.Qin, NaigengRavnan, Julie BrittStephenson, Christine F.Sun, GuoxianSutcliffe, Maxine J.Sutphen, RebeccaTepperberg, James H.Thompson, Katherine HegmannTorchia, Beth S.Vundavalli, Murty V. V. S.Wachtel, Mitchell S.Wallerstein, Robert J.Watson, Jan D.Wenger, Gail D.

Wilke, Charles M.Wolff, Daynna J.Worsham, Maria J.Wu, Shi-QiXu, JiaYelavarthi, Krishna K.Zaslav, Ann-LeslieZheng, Yun-Ling

Clinical Molecular Geneticists (82)Alford, Raye L.Almashanu, ShlomoAnguiano, ArturoBacino, Carlos A.Caggana, MicheleCarpenter, Nancy J.Casey, Brett M.Chan, Sai-OnChen, BinChibbar, RajniCotter, Philip D.Cox, Gerald F.Das, SomaDoheny, Kimberly F.Ellison, Jay W.Elsas, Louis J.Fridovich-Keil, Judith L.Gibson, Jane S.Gold, Albert MarkGoodman, Barbara K.Gray, Mark R.Haag, Mary M.Hajianpour, Atieh K.Hallam, Stephanie E.Halling, Kevin C.Han, JianHeim, Ruth A.Johnson, Dennis R.Jonsson, Jon J.Kambouris, MariosKlein, Karen A.Knoll, Joan HelenLeana-Cox, JulieLevy-Lahad, EphratLi, Marilyn MengrongLi, ShiboLi, XuLindor, Noralane M.Lindpaintner, KlausLuce, Michael C.Lyon, ElaineMadan, SuneetaMaiwald, Robert

McGinniss, Matthew J.Micale, Mark A.Michaelis, Ron C.Miron, Patricia M.Moore, Deborah K.Muralidharan, KasinathanNaeem, Rizwan C.Nunes, Mark E.Oddoux, CarolePenny, Laura A.Perez Jurado, LuisPhillips, Charlotte L.Pratt, Victoria M.Prezant, Toni R.Quan, FranklinRabin, Mark B.Ravnan, Julie BrittReddy, Kavita S.Roa, Benjamin B.Rubinstein, Wendy S.Sasi, RamakrishnaSchaefer, Frederick VailSchlesinger, Sudha R.Selig, H. SarahSilverman, Lawrence M.Spector, Elaine B.Stephens, Karen GStolle, Catherine A.Strasberg, Paula M.Sutcliffe, Maxine J.Sutphen, RebeccaTantravahi, UmadeviWang, ZhenyuanWick, Myra J.Wilcox, William R.Wolff, Daynna J.Wong, Lee-Jun C.Worsham, Maria J.Xin, Winnie W.Zhou, Zhaoqing

Ph.D. Medical Geneticists (11)Burns, JacquelineHallam, Stephanie E.Kambouris, MariosKammermeyer, Kara LynnKlein, Karen A.Korczak, Jeannette F.Mascari, Maria J.McClellan, JuliePalmer, Christina G.Pratt, Victoria M.Speer, Marcy C.

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Editorial Reviewers for 1996The editorial staff of The American Journal of Human Genetics would like to thank the following scientists fortheir invaluable assistance in reviewing manuscripts from July 1, 1995, through June 30, 1996.

Abe, KojiAdams, MichaelAinsworth, PeterAlbertini, Richard J.Allingham-Hawkins, Diane J.Alper, ChesterAmos, Christopher I.Anderson, V. ElvingAndrade, MarizaAntonarakis, Stylianos E.Aoyama, ToshifumiArmour, JohnAsh, David E.Asherson, PhilipAshizawa, TetsuoAston, Christopher E.Aubourg, Patrick

Babron, Marie-ClaudeBaden, Howard P.Badner, Judith A.Baldwin, Clinton T.Bamshad, MichaelBarbujani, GuidoBarchi, R. L.Barker, David F.Barsh, Gregory S.Bassett, Anne S.Bateman, John F.Beaty, Terri H.Beauchamp, GaryBeaudet, Arthur L.Beckmann, Jacques S.Beermann, FriedrichBeggs, Alan H.Bell, John I.Belmont, John W.Bennett, Robin L.Benz, Edward J. Jr.Bernhardt, Barbara A.Betty, David J.Beutler, ErnestBianchi, Nestor 0.Bias, Wilma B.Bichet, DanielBiesecker, Barbara BowlesBiesecker, Leslie G.Bird, Thomas D.Blom, Henk J.

Bobrow, MartinBoehnke, MichaelBoerwinkle, EricBonaiti-Pellie, CatherineBorecki, Ingrid B.Bosma, P. J.Bouchard, ClaudeBoughman, Joann A.Boulikas, TeniBowcock, AnneBowden, Donald W.Boyd, N. F.Brentnall, TerryBreslow, Jan L.Breuning, M. H.Brice, AlexisBrinkmann, AlbertBrinkmann, B.Brock, David J. H.Brody, Larry C.Brown, Carolyn J.Brown, Michael D.Brown, W. TedBrunner, Han G.Brunzell, JohnBryndorf, ThueBrzustowicz, Linda M.Budarf, MarciaBull, Shelley B.Bulman, DennisBurchell, BrianBurgeson, Robert E.Burghes, Arthur H. M.Burke, WylieBurns, TrudyButler, Merlin G.Butow, Ronald A.Buys, Charles H. C. M.Byerley, William

Callahan, John W.Cann, Rebecca L.Cannings, C.Cantor, Rita M.Cao, AntonioCardon, LonCarmelli, DoritCartron, J-PCassidy, Suzanne B.

Cassiman, Jean-JacquesCederbaum, Stephen D.Chakravarti, AravindaChamberlain, Jeffrey S.Chamberlin, MargaretChance, Phillip F.Chapman, MargueriteChen, Yuan-TsongChenevix-Trench, GeorgiaChinault, A. CraigChomyn, AnneChuang, David T.Clarke, Lorne A.Claus, Elizabeth B.Claustres, MireilleClayton, David A.Clayton, Ellen WrightClegg, John B.Clerget-Darpoux, FranqoiseCoates, Paul M.Codori, Ann-MarieCohn, Daniel H.Collinge, JohnCollins, FrancisConcannon, PatrickConneally, P. MichaelCooper, David N.Corder, Elizabeth H.Cortopassi, GinoCottingham, Robert W. Jr.Cotton, Richard G. H.Cowan, TinaCox, Nancy J.Craddock, NickCraig, Ian W.Crow, James F.Crowe, Raymond R.Cupples, L. AdrienneCurb, J. DavidCurry, Cynthia J. R.Curtis, DavidCutting, Garry R.

Dallapiccola, BrunoDanner, Dean J.Davies, Kay E.D'Azza, AlessandraDeeb, SamirDeka, Ranjan

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Editorial Reviewers for 1996

de la Chapelle, AlbertDelgado-Escueta, Antonio V.Demenais, Florence M.De Paepe, AnneDetera-Wadleigh, Sevilla D.Devilee, PeterDevlin, BernieDewald, Gordon W.Dickerman, LoisDiehl, Scott R.Dietz, HarryDiMauro, SalvatoreDiRienzo, AnnaDisteche, ChristineDobyns, William B.Donlon, Timothy A.Donnai, DianDonohoue, PatriciaDriscoll, Deborah A.Duffy, David L.

Easteal, SimonEaston, DouglasEbers, George C.Eggerding, Faye A.Ehm, Margaret G.Eisensmith, Randy C.Ellis, Nathan A.Elsas, Louis J.Engvall, EvaEpstein, Ervin H.Epstein, Neil D.Erbe, Richard W.Estivill, XavierEstop, Anna M.Evett, Ian W.Ewens, Warren J.Excoffier, Laurent

Falk, CatherineFarndon, Peter AnthonyFarrall, MartinFarrell, Donald F.Farrer, Lindsay A.Feingold, EleanorFeldman, Gerald L.Fenton, Wayne A.Ferrell, Robert E.Field, L. LeighFisch, Gene S.Fischer-Lindahl, KirstenFishel, RichardFlejter, Wendy L.Fluharty, Arvan L.Fodde, Riccardo

Folstein, SusanFontaine, BertrandFord, DeborahForuod, TatianaFost, NormanFrancke, UtaFrancomano, Clair A.Frazier, Marsha L.Freimer, Nelson B.Freund, CarolFriedman, Jan M.Friend, StephenFujimoto, AtsukoFukuda, Michiko N.Fulker, David W.

Gahl, WilliamGal, AndreasGallie, Brenda L.Gambetti, PierluigiGardiner, R. M.Gardner, R. J. McKinlayGartler, StanleyGatti, Richard A.Gelernter, JoelGelinas, RichardGeller, GailGeraghty, Daniel E.German, JamesGermino, Gregory G.Gewert, D. R.Geyer, CharlesGibbs, Richard A.Gibson, Kenneth M.Gilbert, FredGill, MichaelGill, Thomas J., IIIGinns, Edward I.Gjertson, David W.Glaser, ThomasGlover, Thomas W.Go, Rodney C. P.Godwin, AndrewGoldgar, DavidGoldin, Lynn R.Goldman, DavidGonzalez, Frank J.Goodfellow, Paul J.Goodfellow, Peter N.Goodman, Stephen I.Goodship, JudithGoossens, MichelGorin, Michael B.Goto, Yu-ichiGrabowski, Gregory A.

Greenberg, Cheryl R.Grody, Wayne W.Grompe, MarkusGros, PhilippeGurling, HughGuttler, Flemming

Hagerman, RandiHaines, Jonathan L.Hall, MargaretHalley, D. J. J.Hammer, MichaelHamosh, AdaHampton, GarretHanawalt, Philip C.Handyside, Alan H.Hansen, John A.Harpending, HenryHarris, Peter C.Harrod, Mary JoHaskins, MarkHassold, Terry J.Hasstedt, Sandra J.Hastbacka, JohanneHauser, StephenHecht, Jacqueline T.Hedrick, Philip W.Heim, RuthHejtmancik, J. FieldingHendriks, R. W.Hennekam, Raoul C. M.Herron, G. ScottHewitt, Jane E.Hill, Shirley Y.Hill, William G.Hillner, BruceHirano, MichioHirst, MarkHobbs, Helen H.Hodes, M. E.Hodge, Susan E.Hoehn, HolgerHoffman, EricHogan, KirkHolmans, PeterHolmes, Lewis B.Holmquist, Gerald P.Hook, Ernest B.Hopper, John L.Hopwood, John J.Horai, SatoshiHorn, NinaHorowitz, JonHorsthemke, BernhardHorton, William A.

1412

Editorial Reviewers for 1996

Horwich, Arthur L.Housman, DavidHovnanian, AlainHowell, NeilHudson, ArthurHuether, Carl A.Hughes, Austin L.Humphries, PeterHunt, Steven C.Hunter, Alasdair G. W.Hurwitz, Jerard

Jabs, Ethylin WangJackson, IanJacobs, Patricia A.Jarvik, GailJazwinska, Elizabeth C.Jenkins, TreforJohns, Donald R.Johnson, Keith J.Jorde, Lynn B.Jouet, MoniqueJulier, Cecile

Kaback, Michael M.Kahn, Ronald C.Kalow, WernerKamboh, M. IlyasKang, Soo-SangKaplan, FeigeKaplan, NormanKay, MarkKazazian, Haig H.Kendler, Kenneth S.Kennedy, James L.Kerem, BatshevaKimberling, William J.King, Mary-ClaireKing, Richard A.Klinger, Katherine W.Klintworth, G. K.Klitz, WilliamKluijtmans, Leo A. J.Knapp, MichaelKnight, Samantha J. L.Knoll, Joan H. M.Knowlton, Robert G.Koeller, David M.Kolodner, Richard D.Kolodny, Edwin H.Korf, BruceKorneluk, Robert G.Kraemer, KennethKruglyak, LeonidKurth, Janice H.

Kushner, James

Laird, CharlesLalouel, Jean-MarcLalwani, Anil K.Lamb, Allen N.Lander, Eric S.Lange, KennethLannfelt, LarsLarsson, Nils-GoranLa Spada, Albert R.Lathrop, G. MarkLaxova, RenataLazarow, Paul B.Ledbetter, David H.Ledley, Fred D.Lee, BrendanLefranc, Marie-PauleLeitersdorf, EranLerner, Terry JaneLevy-Lahad, EfratLewin, HarrisLewis, Richard A.Lewontin, Richard C.Liber, HowardLiebhaber, SteveLillicrap, DavidLin, ShiliLitt, MichaelLoeb, Lawrence A.Long, Jeffrey C.Longo, NicolaLublin, Douglas M.Lupski, James R.Lusis, Aldon J.Lynch, EricLynch, Henry T.Lyonnet, Stanislas

MacCluer, Jean W.MacDonald, MarcyMacKenzie, Alexander E.Mackey, DavidMacLaren, NoelMacLean, Charles J.Macleod, PatrickMahley, Robert W.Malcolm, SusanMaquat, Lynne E.Marazita, MaryMargolis, Russell L.Martin, Nicholas G.Martin, Renee H.Martinez, FernandoMartinez, Maria

Mathew, ChristopherMatise, Tara CoxMatsuda, IchiroMcCabe, LindaMcDermid, Heather E.McDevitt, HughMcElreavey, KennethMcEwen, JeanMcFarland, Henri F.McInnes, Roderick R.McInnis, MelvinMcIntosh, IainMcMahon, Francis J.McPeek, Mary SaraMcPherson, John D.Mehlman, Maxwell J.Meitinger, T.Melancon, Serge B.Melki, JudithMelnick, MichaelMelton, TerryMercer, JulianMerriwether, D. AndrewMeyer, Joanne M.Meyer, UrsMeyers, Deborah A.Meyn, M. StephenMigeon, BarbaraMiller, Orlando J.Miller, Walter L.Milner, EricMinnich, AnneMohandas, NarlaMonaco, Anthony P.Monnat, Raymond J.Moraes, Carlos T.Morgan, KennethMorris, Colleen A.Morton, Cynthia C.Morton, Newton E.Moser, Hugo W.Moses, Robb E.Motulsky, ArnoMountain, Joanna L.Mudd, S. HarveyMuenke, MaximilianMulley, John C.Mulvihill, John J.Munnich, ArnoldMurray, Jeffrey C.Myers, Jeanne C.

Nakamura, YusukeNance, MarthaNance, Walter E.

1413

Editorial Reviewers for 1996

Narod, SteveNathans, JeremyNeale, Michael C.Nebert, DanNelson, DavidNelson, J. LeeNemath, AndreaNepom, BarbaraNepom, GeraldNeufeld, Elizabeth F.Neuman, RosalindNewman, BethNickerson, DeborahNorthrup, HopeNothen, Markus M.

O'Brien, Stephen J.O'Brien, William E.O'Dowd, BrianOlson, Jane M.Omenn, Gilbert S.Omiecinski, CurtisOriol, RafaelO'Rourke, Dennis H.Orr, Harry T.Ostrander, Elaine A.Ostrer, HarryOverhauser, JoanOwen, Michael J.Owerbach, David

Paabo, SvantePage, David C.Pagon, Roberta A.Palmer, Catherine G.Parham, PeterParsons, RamonPassarge, EberhardPatel, MulchandPatel, Pragna I.Patterson, DavidPauli, Richard M.Pauls, David L.Payami, HaydehPeltonen, LeenaPennington, BrucePericak-Vance, MargaretPestka, SidneyPetersen, Michael B.Petersen, Robert B.Petit, ChristinePetronis, ArturasPetty, Elizabeth M.Peyser, PatriciaPinnell, Sheldon R.

Piussan, CharlesPoll-The, Bwee TienPonder, Bruce A. J.Popovich, BradleyPoulton, JoannaPovey, SuePrice, R. ArlenProia, Richard L.Puck, Jennifer

Quaid, Kimberly A.Ramirez, FrancescoRanum, Laura P. W.Raskind, WendyRasmussen, Sonja A.Ray, Peter N.Raymond, VincentRebbeck, TimothyRedston, MarkReichardt, Juergen K. V.Reilly, Philip R.Reiss, Allan L.Rhead, William J.Riccardi, Vincent M.Rice, Treva KayRich, Stephen S.Richards, Julia E.Risch, Neil J.Roa, Benjamin B.Robbins, Paul D.Robbins, Wendie A.Roberts, Derek F.Robinson, Brian H.Robinson, Wendy P.Roeder, KathrynRogers, Alan R.Rommens, JohannaRosen, Fred S.Rosenblatt, David S.Ross, ChristopherRotter, Jerome I.Rouleau, Guy A.Rousseau, FrancoisRowe, DavidRowley, JanetRowley, Peter T.Rozen, RimaRucknagel, Donald L.Russell, David W.

Sadovnick, A. DessaSaiki, Randall K.St. George-Hyslop, P. H.Sandberg, Avery A.

Sandford, RichardSantachiara-Benerecetti, A. S.Sapienza, CarmenSassa, ShigeruSavontaus, Marja-LiisaScambler, Peter J.Schaid, DanSchapira, A. H. V.Scheuner, MarenSchinzel, AlbertSchlessinger, DavidSchneider, PeterSchnur, RhondaSchofield, Peter R.Schon, Eric A.Schork, Nicholas J.Schurr, ErwinSchwartz, StuartScriver, CharlesSegal, StantonSeidman, ChristineShaffer, Lisa G.Sham, PakShanske, SaraShe, Jin-XiongSheffield, ValSherrington, RobinShiang, RitaShields, Gerald F.Shih, Vivian E.Shiloh, YosefShoffner, JohnShoubridge, EricSiegmund, DavidSilverman, Gary A.Simard, LouiseSims, Katherine B.Sinclair, Andrew H.Sing, Charles F.Singer, MichaelSistonen, PerttiSkandalis, AdonisSkolnik, Mark H.Sly, William S.Smalley, Susan L.Smith, ShelleySmulson, MarkSnell, Russell G.Sokal, Robert R.Somlo, StefanSommer, Steve S.Soodyall, HimlaSorbi, SandroSorenson, JamesSoreq, Hermona

1414

Editorial Reviewers for 1996

Sparkes, RobertSpeed, TerrySpeer, Marcy C.Spence, M. AnneSpielman, RichardSpotila, Loretta C.Spritz, RichardSpurr, NigelSteck, Peter A.Steel, KarenStephens, KarenStevanin, GiovanniStoll, ClaudeStoneking, MarkStrong, Louise C.Struewing, Jeffery P.Suarez, Brian K.Sutherland, Grant R.Suzuki, KunihikoSweetman, Lawrence A.Swift, MichaelSwisshelm, KarenSybert, Virginia P.Sykes, Bryan C.Szathmary, Emoke J. E.

Tanaka, KayTanzi, Rudolph E.Taschner, Peter E. M.Taylor, John M.Taylor, PalmerTaylor, SimeonTerwilliger, Joseph D.Thibodeau, Stephen N.Thoene, Jess G.Thomas, AlunThomas, George H.Thompson, Arthur R.Thompson, ElizabethThomson, Glenys J.

Tiller, George E.Todd, JohnTodorov, Alexandre A.Torroni, AntonioTrembath, Richard C.Tremblay, MarcTriggs-Raine, BarbaraTryggvason, KarlTsipouras, PetrosTsui, Lap-CheeTsuji, ShojiTuddenham, Edward G. D.Turker, MitchellTurner, Gillian

Undlien, Dag E.Utermann, Gerd

Van Broeckhoven, ChristineVan Dyke, Danielvan Ommen, Gert J. B.van Oost, Bernard A.Vieland, Veronica J.Vikkula, MikkaViskochil, David H.Vita, Gary M.Vogelstein, BertVolanakis, John E.

Wallis, Gillian A.Wanders, Ronald J. A.Warburton, DorothyWard, Patrick J.Warman, MatthewWarren, Stephen T.Weber, Barbara L.Weber, James L.Weedn, VictorWeeks, Daniel E.Wegner, Rolf-Dieter

Weir, Bruce S.Weiss, Kenneth M.Welsh, ElizabethWenger, David A.Wenstrup, Richard J.West, DavidWhitley, Chester B.Whyte, Michael P.Wiggs, Janey L.Wijsman, Ellen M.Wilcox, WilliamWilfond, BenjaminWilkie, Andrew 0. M.Willard, Huntington F.Willems, Patrick J.Williams, Charles A.Wilson, James M.Winter, Robin M.Wordsworth, PaulWorton, Ronald G.Wright, Alan F.

Yang-Feng, TeresaYaouanq, JacquelineYates, John R. W.Yoshida, AkiraYoung, Anne B.Youssoufian, HagopYu, C. Yung

Zachary, Andrea A.Zackai, Elaine H.Zdzienicka, Malgorzata Z.Zerres, KlausZhang, ChunfangZhao, Lue PingZheng, Chang-JiangZimran, AriZlotogora, JoelZonana, Jonathan

1415

Author Index for Volume 59(ASHG) = American Society of Human Genetics statement; (BR) = book review; (E) = editorial; (L) = letter; (R)- review article

Aaltonen, J., 879Abbas, N., 1328Abbott, M. H., 16Abbruzzese, M., 739 (L)Abel, L., 453Abruzzo, M. A., 1108Adams, C., 676Adkins, W., 146Agid, Y., 1328Aita, V., 152Ajmar, F., 739 (L)Ala-Kokko, L., 1097Albin, R., 140Alderson, K., 392Alfinito, F., 887Allen, A., 487 (L)Al-Maghtheh, M., 864Almqvist, E., 16Aloya, M., 95Altay, C., 377Aman, R., 437American Society of Human

Genetics, The, 471 (ASHG)Amos, C. I., 676, 743 (L)Andermann, A. A., 331Andersen, T. I., 486 (L)Anderson, B., 487 (L)Andreassen, R., 360Andrews, L., 487 (L)Andria, G., 262 (L), 1391 (L)Anikster, Y., 1012Antignac, C., 1221Antonarakis, S. E., 66, 1395 (L)Arnheim, N., 772, 896, 1186Arranz, M. J., 855Arrondel, C., 1221Arzimanoglou, I. I., 271 (L)Ashkenas, J., 756 (E), 1404 (BR)Ashley, A. E., 1252Atif, U., 23Attardi, G., 772Auerbach, A. D., 377Auerbach, S. A., 664Auloge, L., 625

Backe, J., 962 (L)Badr, F. M., 741 (L)Baker, J. R., 1276Baldini, A., 23

Bale, A. E., 417Ballabio, A., 1019Bandelt, H.-J., 185, 935Bang, J., 918Bapat, B., 736 (L)Barber, J., 1193Barboni, P., 248 (L)Barbujani, G., 1363Barlati, S., 292Barrat, F. J., 625Barrett, T. G., 855Bassett, A. S., 905Battistini, S., 1233Bauer, K., 437Beck, M., 1202Beckman, L., 570Beckmann, J. S., 1400 (L)Beckwith, J., 487 (L)Beighton, P., 146Bell, D. A., 128Bell, G. I., 1288Belletti, L., 292Bellone, E., 739 (L)Bendall, K. E., 1276Benlian, P., 431Bennett, R. L., 1403 (BR)Ben Othmane, K., 258 (L), 1040Ben-Zeev, B., 1012Ben-Zion, G., 879Bernard, L., 431Bernasconi, F., 1114Bernatowska-Matuszkiewicz, E.,40

Bernini, L. F., 927Bertini, E., 135Bertorelle, G., 1363Bettinelli, A., 1019Bhattacharya, S., 864Biancalana, V., 16, 847Bianchetti, M., 1019Biasotto, M., 308Biery, B. J., 1006Bignell, M., 1262Bingham, E., 152Bitoun, P., 1288Bjorses, P., 879Blangero, J., 694Bleeker-Wagemakers, E. M.,481 (L)

Boehm, C. D., 234Boehnke, M., 717, 946Boghosian-Sell, L., 999Boles, R. G., 146Bolesta, M., 529Bolhuis, P. A., 481 (L)Bonatto, S. L., 253 (L)Bonilla, E., 591Bonnemann, C. G., 1040Bonnet, D., 958 (L), 1337Boon, L., 146B0rresen, A.-L., 486 (L)Botstein, D., 377Bouix, J.-C., 847Bowen, T., 912Bowman, J., 487 (L)Bowman, S. J., 226Boyd, C. D., 958 (L)Bradburn, J. M., 331Brahe, C., 834Brai, M., 308Brega, A., 964 (L)Breillat, C., 1221Breukel, C., 1193Brice, A., 1328Brock, D. J. H., 1165 (L)Brohm, M., 962 (L)Bronte-Stewart, J., 481 (L)Brook, J. D., 1337Brown, J., 684Brown, W. T., 478 (L), 1252Broyer, M., 1221Brunner, H. G., 146Bruns, G., 152Bryndorf, T., 918Buckler, A. J., 1337Bullman, H., 1193Bundey, S., 855Bunge, S., 1202Bunyan, D., 1193Burger, J., 620Burn, J., 1193Buxbaum, J. D., 644Buys, C. H. C. M., 834Byerley, W. F., 731 (L)Byers, B., 268 (L), 1397 (L)Byrd, P. J., 320

Caffier, H., 962 (L)1416

Author Index for Volume 59

Calabrese, G., 1393 (L)Calafell, F., 1363Caldwell, P., 234Calzone, K., 547Campanella, G., 554Cann, R. L., 256 (L)Cant, A. J., 625Capitanio, M., 1363Capua, A., 793Cardno, A., 912Carelli, M. P., 918Carelli, V., 248 (L)Carey, J. C., 1288Carmi, R., 385Carritt, B., 1066Casari, G., 1019Cassidy, S. B., 1170 (L)Cassiman, J.-J., 16Castellotti, B., 475 (L)Cavalcanti, F., 554Cawthon, R., 159Celep, F., 1114Chabas, A., 1048Chadwick, D., 653Chahrokh-Zadeh, S., 1168 (L)Chakraborty, R., 109Chakravarti, A., 66Chalmers, R. M., 103Chan, C., 481 (L)Chang, F. M., 644Chartrand, C., 519Chauvin, A., 847Chen, C.-J., 128Chen, H., 66Chen, H. S., 519Chen, K., 547Chen, X., 591Chen, Y., 825Chen, Z.-Y., 1074Chiamprasert, S., 128Chinault, A. C., 407Chiumello, G., 879Chomyn, A., 772Chotai, K., 16Chretien, N., 331Christensen, B., 918, 1268Christensen, E., 1012Christiano, A., 1097Chui, H., 664Chung, W. K., 694Clarke, J. T. R., 95Claudio, J. 0., 331Clayton, E. W., 1169 (L)Clegg, D. O., 676Clerget-Darpoux, F., 1149

Clericuzio, C. L., 1027Clow, C., 793Cobben, J. M., 834Cocozza, S., 554Cohen, D. J., 644Cohen, J., 176Cohen, J. S., 613Cole, D. E. C., 633Coles, R., 16Collier, D. A., 855Colombi, M., 292Colussi, G., 1019Comings, D. E., 999Concannon, P., 40, 839Connarty, M., 16Considine, E., 1097Cook, M., 1134Cook-Deegan, R., 487 (L)Coon, H., 731 (L)Corey, D., 1074Corrain, C., 1363Corte-Real, H., 185Cortopassi, G., 772Corwin, L., 119Cote, G. J., 510Cotton, R. G. H., 289 (E)Couch, F. J., 547Coullin, P., 1328Coutinho, P., 119Cox, D., 487 (L)Cox, D. R., 717Cox, D. W., 462Cox, P., 1337Craufurd, D., 16Cremers, C., 1074Crews, D. E., 213Csiszar, K., 958 (L)Cunha, S., 1328Cupples, L. A., 119, 664Curtis, A., 16Curtis, D., 16, 855Curtis, P. J., 351Cushner, S., 740 (L)Cutting, G. R., 45

Dahl, N., 879Dailey, T., 176Dale, B.,,176Dallapiccola, B., 7 (E), 146,

1393 (L)Dang, M. H., 772D'Angelo, A., 262 (L)Datson, N. A., 1288, 1297Dauwerse, H. G., 1297David, G., 1328

Davidson, M. J., 16Davis, M. B., 103Dawson, D. M., 119Dean, M., 417de Franchis, R., 262 (L), 1391 (L)De Fusco, M., 1019De Gasperi, R., 1233De Gennes, J. L., 431Deka, R., 109de la Chapelle, A., 1243de la Cruz, F., 84Del Bono, E. A., 613Deleuze, F., 477 (L)Demaine, A., 185De Mattia, D., 887De Michele, G., 554den Dunnen, J. T., 834, 1297Denton, P. H., 1040De Paepe, A., 146de Saint Basile, G., 625de Sa Moreira, E., 1040Deschenes, G., 1221Deschenes, S. P., 799DeShano, M., 547Dessein, A. J., 453DeStefano, A. L., 119De Stefano, V., 262 (L)Detera-Wadleigh, S. D., 731 (L)Detsky, A. S., 301De Verneuil, H., 847Devoto, M., 152Dhulipala, R., 1097DiDonato, S., 475 (L)Diehl, S. R., 731 (L)Differ, A.-M., 16Dlouhy, S. R., 12 (E)di Minno, G., 262 (L)Doane, W. W., 269 (L)Dobkin, C., 478 (L)Dode, C., 16Dodge, A., 16Doe, W. F., 818Donis-Keller, H., 958 (L)Drabkin, H., 1328Drouot, L., 1221Dry, K., 152Duara, R., 664du Boulay, C., 1193Duffy, D. L., 731 (L)Duggirala, R., 694Duncan, A. M. V., 519Dunn, J., 810Durcan, S., 135Duster, T., 487 (L)Dutly, F., 1114

1417

Author Index for Volume 59

Easton, D., 226Easton, R. D., 213Eberwine, J., 561Eccles, D. M., 1193Edkins, E., 818Egeland, T., 360Eggertson, D., 872Eisenberg, R., 487 (L) (abstained)Ek, B., 59Elbedour, K., 385Eldridge, R., 529Elliott, J. L., 260 (L)Elmslie, F. V., 653Elpeleg, 0. N., 1012Erlich, H. A., 1134, 1186Essioux, L., 479 (L)Evans, K., 864Evett, I. W., 1399 (L)Ewens, W. J., 983 (E)Exelbert, R., 59

Faragher, I., 818Farrer, L. A., 119, 664Faure, S., 377Feingold, E., 1108, 1252Fekete, G., 958 (L)Fellous, M., 964 (L)Fermo, I., 262 (L)Ferrell, R. E., 109, 204, 213Filla, A., 554Filosa, S., 887Finck, S., 847Fine, B., 487 (L)Fink, J. K., 140Fischer, A., 625Fisher, A., 1193Flanigan, K., 392Fodde, R., 1193Folstein, S. E., 16Ford, D., 226Forestier, L., 1221Forget, B. G., 351Forster, P., 185, 935Forsythe, P., 152Fouad, G. T., 135Foubert, L., 431Franchi, P. G., 1393 (L)Francke, U., 781Frants, R. R., 1288, 1297Franz, M. L., 16French FMF Consortium, The,603

Fricker, J. P., 479 (L)Friis, M. L., 653Frontali, M., 16

Fucharoen, G., 579Fujiki, Y., 1210Fujita, R., 152Fukai, K., 620Fukao, T., 519Fukuda, S., 1210

Gaballah, M. F., 741 (L)Gagel, R. F., 510Gagne, E., 431Gailani, M. R., 417Gal, A., 1202Gallagher, P. G., 351Gallie, B. L., 301Gallinger, S., 736 (L)Galster, B., 392Gama Sosa, M. A., 1233Gao, G. P., 95Garber, J. E., 547Gardella, R., 292Gardiner, R. M., 653Gardner, K., 392Garrett, C., 1337Gaskell, P., 258 (L)Gaskell, P. C. Jr., 1306Gaspar, C., 119Gasser, D. L., 743 (L), 744 (L)Gatta, V., 1393 (L)Gatti, R. A., 40, 839Gelehrter, T. D., 968 (L)Gelernter, J., 644Gellera, C., 475 (L)Gemmill, R., 1328Ge'nin, E., 1149Gerhard, D. S., 1343Gershon, E. S., 731 (L)Gessler, D. D. G., 1382Ghosh, S., 825Giacometti, N., 887Giatras, I., 1221Gilbert, F., 271 (L)Gill, P. D., 1399 (L)Ginsburg, D., 968 (L)Girbach, L., 140Girotti, F., 475 (L)Giunti, P., 1328Glicksman, A. E., 1252Glombitza, G., 1048Glorieux, F. H., 633Godfrey, M., 1027Goldin, L. R., 731 (L)Goldman, A., 445Goldstein, A., 417Golovleva, I., 570Gong, Y., 146

Good, R. A., 40Goode, E. L., 990Goodfellow, P., 260 (L)Goodman, S. I., 1006Goodship, J., 23Gorin, M. B., 1074Gould, D. B., 1321Govan, G., 481 (L)Goyette, P., 1268Graham, C. A., 16Grebe, T. A., 269 (L)Green, R. C., 664Greenberg, C. R., 872Greenberger, P. A., 45Greff, L. J., 613Grice, D. E., 644Griffin, D. K., 1108Grobbee, D. E., 1119Grootscholten, P. M., 834Growdon, J. H., 664Grunfeld, J.-P., 1221Gschwend, M., 377Gubler, M.-C., 1221Guerra, M., 1306Guldberg, P., 84Gusella, J. F., 529, 1233Guttler, F., 84Guy, C., 912

Haataja, R., 540Hadchouel, M., 477 (L)Hahnen, E., 1057, 1163 (L)Haines, J. L., 613, 664Hales, C. N., 694Halford, S., 23Hall, B. D., 331Hall, W. W., 204Halliday, W., 872Halloran Blanton, S., 744 (L)Hamel, B. C. J., 781Hamosh, A., 45Han, F.-y., 331Handt, O., 368Hanefeld, F., 1163 (L)Hanley, W. B., 84Hanson, N. Q., 1262Harding, A. E., 103, 481 (L),

1328Harding, R., 935Harihara, S., 579Haris, I., 226Harper, P. S., 16Hartl, D., 272 (L)Hashiguchi, N., 1210Hassold, T. J., 1108

1418

Author Index for Volume 59

Hasson, T., 1074Hattori, Y., 579Hayasaka, K., 579Hayden, M. R., 16, 431Hayward, C., 1165 (L)Hecht, J. T., 743 (L), 744 (L)Hechtman, P., 52, 1035Hedera, P., 140Hedges, R., 185Hedreen, J. C., 16Heideman, P., 879Heine, R.J., 1119Helms, B. R., 1306Helms, C., 958 (L)Henriksen, K. F., 84Henske, E. P., 400Heus, J. J., 1297Hillner, B., 287 (E)Hinek, A., 52Hirose, T., 146Hirvonen, A., 128Hodes, M. E., 12 (E)Hodgson, S. V., 226Hoffmann, A., 1048Holinski-Feder, E., 1168 (L)Holtzman, N., 487 (L)Honer, W. G., 905Hoorweg-Nijman, J. J. G., 879Hornigold, N., 400Horta, W., 1328Horwitz, M., 990Hou, Y., 52Houck, G. E., Jr., 1252Howell, N., 481 (L), 501, 749 (E)Huang, C.-H., 825Huang, E., 510Huang, M.-M., 1186Hulette, C. M., 1306Hurko, O., 684Hyland, J., 1097

Ikawa, Y., 1084Ilonen, J., 462Imaizumi, K., 1210Inglehearn, C. F., 864Inoue, K., 32Ito, H., 620

Jacassier, D., 1221Jackson, A., 16Jacobson, S. G., 1074Jaeken, J., 810Jain, K. D., 269 (L)Jans, A., 146Jarvik, G. P., 990

Jay, M., 864Jedele, K. B., 1168 (L)Jenkins, L. S., 167Jenkins, T., 445, 1091Jeppesen, P., 1091Jin, M., 95Johnson, A. B., 95Johnstone, K. A., 23Jokinen, A., 1097Jones, L., 912Jones, S. M., 140Jorde, L. B., 159Joseph, A., 1012

Kaiser-Kupfer, M. I., 529Kanazawa, I., 1313Kandefer-Szerszen, M., 570Kandil, H. H., 620Kaneko, A., 1084Kant, J., 547Kaplan, C., 392Kaplan, F., 52Kaplan, J.-C., 16Kaplan, P., 781Karaguzel, A., 1114Karim, M. A., 620Karson, E. M., 167Kassovska-Bratinova, S., 519Kato, M. V., 1084Kaul, R., 95Kawanishi, C., 32Kazazian, H. H., Jr., 234Kelley, P. M., 1074Kemp, T. J., 1066Kennedy, J. L., 264 (L), 905Kerr, M., 653Keser, I., 1114Khan, H. N., 301Khan, P. M., 818Kidd, K. K., 644Kim, U.-J., 23Kimberling, W. J., 1074Kimura, H., 343Kimura, K., 32Kimura, S., 32King, P., 487 (L)Kitamura, K., 331Kitcher, P., 487 (L)Kivirikko, S., 1097Kjeldsen, M. J., 653Klempan, T. A., 905Klinger, K. W., 918Klitz, W., 1134Knapp, M., 485 (L)Knebelmann, B., 1221

Knight, S. J. L., 847Knip, M., 462Knoll, J. H. M., 423Kobayashi, K., 1313Koch, R., 84Koda, Y., 343Kodish, E. D., 1170 (L)Kohonen-Corish, M., 818Kolodny, E. H., 1233Kondo, N., 519, 1210Kool, D. A., 818Korab-Laskowska, M., 633Korf, B., 423Korn, R., 1097Kosaka, K., 32Kotula, L., 351Kozyra, A., 234Krane, D., 272 (L)Krause, A., 445Kresse, H., 1202Krings, M., 368Krivit, W., 1233Krolewski, A. S., 1376Kruglyak, L., 377Kubacka, I., 501Kuhnle, U., 510Kuivaniemi, H., 1097Kume, A., 140Kunkel, L. M., 1040Kurlan, R., 644Kuroki, Y., 1210Kurz, A., 664Kwiatkowski, D. J., 400Kwon, J. M., 260 (L)

Labuda, D., 633Labuda, M., 633LaBuda, M. C., 684, 1343Lacombe, D., 847Lagelouse, R. D., 625Lalioti, M. D., 66Lanchbury, J. S., 226Lander, E. S., 377Lange, K., 717Langlois, S., 431Laurent-Puig, P., 479 (L)Lavin, M., 40Lazzeroni, L., 1186Leana-Cox, J., 167Leckman, J. F., 644Ledoux, P., 1035Lee, J., 226Leeflang, E. P., 896Leggo, J., 16Leibel, R. L., 694

1419

Author Index for Volume 59

Leisti, J., 540Lemm, T., 1048Lennard-Jones, J., 226Lennon, F., 258 (L)Lennox, G. G., 320Le Paslier, D., 625Leppert, M., 140Leppert, M. F., 392Levanat, S., 417Levenkron, J. C., 234Levran, O., 377Levy, H. L., 84Lewis, F. A., III, 1252Leysens, N.J., 1288Li, Q. Y., 1337Li, S. Y., 1252Liang, T., 40Liaw, Y.-F., 128Lidov, H. G. W., 1040Limacher, J. M., 479 (L)Limprasert, P., 1252Lindgren, C., 1288Liu, J., 146Liu, Y., 343Loader, S., 234Losekoot, M., 16Litleci, G., 1114Lum, J. K., 256 (L)Lundgren, E., 570Lunetta, K. L., 717Luzzatto, L., 887Lynch, H. T., 1184 (E)Lynn, A., 66Lyonnet, S., 1337

Maassen, J. A., 855, 1119Macaulay, V. A., 185, 1276MacCollin, M. M., 331, 529Macek, M., Jr., 45MacFarlane, H., 1233Maciel, P., 119Mackey, D. A., 481 (L), 501MacLean, J., 45Macleod, A., 855MacLeod, P., 119MacMillan, J. C., 16Macrae, F., 818Madhatheri, S., 1097Madlensky, L., 736 (L)Mahuran, D. J., 52Malcolm, S., 744 (L)Maldonado, M., 1343Malpassi, P., 248 (L)Malyarchuk, B. A., 1167 (L)Mancardi, G., 739 (L)

Mancini, F. P., 262 (L)Mandel, H., 1012Mandel, J.-L., 847Mandich, P., 739 (L)Maquat, L. E., 279 (E)Marchesi, S. L., 351Margaglione, M., 262 (L)Marini, D., 292Marshall, D., 1343Martini, G., 887Mastroianni, N., 1019Masuno, M., 1210Matalon, R., 84, 95Mathay, J., 140Mathew, C. G., 226Mathivon, L., 879Matin, F., 128Matsubayashi, S., 579Mazzola, G., 262 (L)McCabe, L., 762 (E)McCarron, S., 1097McConville, C. M., 320McDermott, M. F., 676McGuffin, P., 912McGuire, G. M., 320McHenry, C., 152McInerney, J., 487 (L)McInnis, M. G., 973 (E)McKie, J. M., 23McKusick, V., 487 (L)McLaughlin, B. A., 561McNally, E. M., 1040McPeek, M. S., 896Mears, A. J., 1321Meershoek, E. J., 1297Mehlman, M. J., 1170 (L)Meindl, A., 1168 (L)Meisler, M. H., 764 (R)Meng, G., 1163 (L)Meo, T., 308Meoni, C., 475 (L)Merriwether, D. A., 204, 213Metzenberg, S., 252 (L)Michels, V., 331Miller, P. W., 45Millie, E. A., 1108Mingarelli, R., 1393 (L)Mirzayans, F., 1321Misiano, G., 308Mitchell, B. D., 694Mitchell, G. A., 519Mitchell, J. J., 793Mitri, A., 736 (L)Miyake, M., 1313Mizuno, K., 1313

Moisio, A.-L., 1243Moller, C., 1074M0ller, P., 486 (L)Molloy, M. G., 676Monticelli, A., 554Moore, K. J., 620Moore, T., 864Mooseker, M., 1074Morgan, K., 872Morrison, H., 1091Morrison, P., 16Morton, D. H., 1006Morton, N. E., 1398 (L)Mulcahy, B., 676Mulliken, J. B., 744 (L)Mullis, P. E., 879Mulvihill, J., 487 (L)Munne, S., 176Munnich, A., 958 (L), 1337Murayama, K., 579Murphy, K., 912Murray, J., 487 (L)Murray, J. C., 1288, 1297Murray, M., 1306Murray, R., 487 (L)Murray, T., 487 (L)

Nagayoshi, M., 1084Nahmias, J., 400Nakagome, Y., 1313Nakahori, Y., 1313Nakamura, Y., 1313Nance, M. A., 1 (E)Naom, I., 226Narod, S. A., 736 (L)Natarajan, A. T., 1091Navia, B. A., 152Navidi, W., 772, 1186Nelkin, D., 487 (L)Nelson, D. L., 407Nelson, L. M., 159Newbury-Ecob, R., 1337Nezu, A., 32Nicholls, R. D., 423Nichols, R. C., 59Nicholson, H. S., 529Nicholson, J., 968 (L)Nigro, L., 1363Nikoskelainen, E., 481 (L)Noble, J. A., 1134Nobukuni, Y., 76Nolin, S. L., 1252Noorani, H. Z., 301Norby, S., 481 (L)Novelletto, A., 16

1420

Author Index for Volume 59

Novelli, G., 7 (E)Nylen, E., 872

Ochs, H. D., 839O'Connell, P., 694O'Donovan, M. C., 912O'Gara, F., 676Oh, J., 620Olaisen, B., 360Olsen, B. R., 146Omoto, K., 579Onengut, S., 839Onishi, H., 32Oostra, R.-J., 481 (L)Orii, T., 1210Orten, D. J., 1074Osaka, H., 32Osawa, M., 1313Osumi, T., 1210Ott, J., 152Otten, K., 1343Otterud, B., 140, 392Overbeck, L. D., 1074Overhauser, J., 999Owen, M. J., 912Ozand, P., 1048

Paabo, S., 368, 437, 493 (L),741 (L)

Pages, S., 479 (L)Pagnini, D., 887Pakstis, A. J., 644Palka, G., 1393 (L)Pallotti, F., 591Pan, I-H., 579Pang, K. A., 653Papiha, S., 185Park, K. S., 579Parner, J., 918Parry, D. M., 331, 529Passarino, G., 927, 964 (L)Passos-Bueno, M. R., 1040Pastural, E., 625Patel, P. I., 980 (E)Paterson, A. D., 264 (L)Pauls, D. L., 644Pearce, W. G., 1321Peltomaki, P., 1243Peltonen, L., 146, 879Peng, Y., 547Peoples, R., 781Perez-Cerda, C., 519Perez Jurado, L. A., 781Perheentupa, J., 879

Pericak-Vance, M. A., 258 (L),1306

Perrin, G., 66Petronis, A., 264 (L), 905Petrozzi, M., 248 (L)Petty, E. M., 968 (L)Phelan, C. M., 331Philip, J., 918Phillips, J. C., 613Pianese, L., 554Piper, K., 453Pizzuti, A., 7 (E)Plotz, P. H., 59Podleski, A., 272 (L)Pohl, M., 879Popowska, E., 633Poulter, M., 1066Poulton, J., 481 (L)Pralea, A. M., 613Pressman, C. L., 417Primrose, J., 1193Pronicka, E., 633Propping, P., 331Ptacek, L. J., 135, 392Pulaski, K., 529Pulkkinen, L., 1097Punnett, H., 1097Purandare, S. M., 159Puukka, R., 462

Qin,J., 1186

Raben, N., 59Rabinowitz, D., 726Rabl, W., 510Radvany, J., 119Rainier, S., 140Ramesar, R., 146Ramsay, M., 445Ranade, K., 377Rand, E. B., 477 (L)Ranen, N. G., 16Rangaratnam, S., 331Rao, V. S., 664Raphael, S., 1097Rapp, R., 487 (L)Rathmann, M., 1202Rebbeck, T. R., 547Redd, A. J., 253 (L)Rees, M., 653Reid, M., 825Reijonen, H., 462Reinhart, L. J., 694Riccardi, V. M., 331Richards, M., 185

Richens, A., 653Richter, S. F., 269 (L)Riddle, M. A., 684Rimmler, J. L., 1306Risch, N., 951Ritzen, M., 879Robert, M.-F., 519Roberts, E. J., 799Robinson, W. P., 431, 1175 (E)Rodrigues, V. Jr., 453Rogan, P. K., 423Rogus, J. J., 1376Romeo, G., 879Root, A. W., 633Rosenberg, T., 481 (L)Rosenblatt, D. S., 1268Roses, A. D., 1306Ross, C. A., 16Ross, V. L., 818Rossier, C., 66Rothstein, M. A., 1169 (L)Rouleau, G. A., 119, 331Rouse, B. M., 84Rowley, P. T., 234Rozear, M., 258 (L)Rozen, R., 1268Rubinsztein, D. C., 16Rudnik-Schoneborn, S., 1057,

1163 (L)Rudolphi, O., 59Ruttledge, M. H., 331

St. John, D. J. B., 818Saito, K., 1313Salem, A.-H., 741 (L)Salzano, F. M., 253 (L)Sandhoff, K., 1048Santachiara-Benerecetti, A. S.,

927, 964 (L)Santella, R. M., 128Sartorato, E. L., 1233Sasaki, M. S., 1084Sasaki, T., 905Satoshi, H., 579Savontaus, M.-L., 481 (L)Sawada, S., 159Sawyer, S., 272 (L)Saxton, M., 487 (L)Scambler, P. J., 23Schachter, H., 810Scheffer, H., 834Scheithauer, B. W., 400Schenone, A., 739 (L)Schepers, U., 1048Schettini, F., 887

1421

Author Index for Volume 59

Schinzel, A. A., 1114Schmechel, D. E., 1306Schon, E. A., 591Schonling, J., 1057Schutgens, R. B. H., 95Schwartz, S., 167Schwichtenberg, K., 1262Scott, D. A., 385Scozzari, R., 248 (L)Scriver, C. R., 793, 1035Sebastio, G., 262 (L), 1391 (L)Seemanova, E., 744 (L)Segal, M., 152Seltzer, W. K., 269 (L)Semina, E. V., 1288, 1297Semino, O., 927, 964 (L)Sequeiros, J., 119Sereni, F., 1019Servidei, S., 135Shaag, A., 1012Shamanski, F. L., 1405 (BR)Shanahan, F., 676Shapiro, M. S., 879Sheffield, V. C., 385Shen, S., 377Shenkar, R., 772Sherman, S. L., 1252Sherr, M., 16Shiloh, Y., 40Shimizu, T., 1084Shimkets, R., 417Shimoya, K., 1097Shimozawa, N., 1210Shipman, P. A., 694Short, M. P., 400Short, P., 331Shriver, M. D., 109Sidransky, E., 740 (L)Sieving, P. A., 152Simpson, S. A., 16, 1165 (L)Singer, H. S., 684Sistonen, P., 1243Siu, V. M., 417Skarka, H., 76Slavin, R. G., 45Slayton, R. L., 799Smith, C. S., 879Smith, N. M., 1337Sobol, H., 479 (L)Soejima, M., 343Solyom, J., 879Somer, H., 146Song, X.-Q., 519Speer, M. C., 258 (L)Speicher, D. W., 351

Speight, G., 912Spencer, C., 561Sperandeo, M. P., 1391 (L)Spielman, R. S., 983 (E)Spotila, L., 1097Spritz, R. A., 620Spurdle, A. B., 1126Stajich, J. M., 258 (L)Stal, S., 744 (L)Stankovic, T., 320Stec, I., 962 (L)Stein, D. E., 1006Stein, J., 744 (L)Steinbach, P., 1168 (L)Steinmann, B., 146Stenico, M., 1363Stern, M. P., 694Stevanin, G., 1328Stevenson, T., 1288Stine, 0. C., 16Stivers, D. N., 109Stolk, R. P., 1119Stoll, C., 847Stone, E. M., 385Stoneking, M., 253 (L)Stoppa-Lyonnet, D., 479 (L)Stringham, H. M., 946Stuppia, L., 1393 (L)Su, Q., 95Subramanian, P. S., 407Sudarsky, L., 119Sugiyama, N., 32Sullivan, B. A., 167Sumegi, J., 1074Sun, C.-e, 731 (L)Sundqvist, A., 653Superti-Furga, A., 146Surralles, J., 1091Sutherland, H. F., 23Suzuki, Y., 1210Swaroop, A., 152Sweeney, M. G., 103Swingler, R. J., 1165 (L)Swoboda, W., 146Sykes, B. C., 185, 1276

Tachibana, M., 76Taine, L., 847Takeda, K., 76Tan, J., 810Taroni, F., 475 (L)Tarttelin, E., 864Tate, A., 1097Tatuch, Y., 905Taub, R., 477 (L)

Tavare, S., 772Tayebi, N., 740 (L)Taylor, A. M. R., 320Taylor, C., 23Telatar, M., 40Teraoka, S., 839Terracina, M., 248 (L)Terrett, J. A., 1337't Hart, L. M., 1119Theilmann, J., 16Thomas, G., 479 (L), 1134Thomas, P. M., 510Tim, R. M., 258 (L)Toda, T., 1313Tokunaga, K., 1313Tolun, A., 839Tomatsu, S., 1210Tonin, P., 736 (L)Torroni, A., 248 (L), 935Tosi, M., 308Trefz, F., 84Tromp, G., 1097Trottier, Y., 16Tsai, M. Y., 1262Tsukamoto, T., 1210Tylki-Szymanska, A., 1202

Udar, N., 40Ugarte, M., 519Uhlmann, W. R., 968 (L)Urban, Z., 958 (L)Uresandi, 0. C., 694

Vad, M., 918Vahlne, A., 204Vainzof, M., 1040Vaisanen, M.-L., 540Valdes, A. M., 1134van Broeckhoven, C., 664Vance, J. M., 258 (L), 1040van den Boogaard, M.-J., 146van der Does, F. E. E., 1119van der Luijt, R., 1193van der Steege, G., 834van Duijn, C. M., 664van Ommen, G.-J. B., 834, 1288,

1297van Slegtenhorst, M., 400van Staalduinen, A. A. A., 1297Varvil, T., 140Vavougios, G., 52Veijola, R., 462Verlander, P. C., 377Verpy, E., 308Vikkula, M., 146

1422

Author Index for Volume 59

Vikman, A., 879Vilmer, E., 625Vincent, J. B., 905Viskochil, D. H., 159Vithana, E., 864Vobecky, S., 519Voit, T., 1163 (L)Volicer, L., 664von Haeseler, A., 437

Wadey, R., 23Wagenaar, M., 1074Walden, S. M., 45Waldron-Lynch, F., 676Walkup, J. T., 684Wallace, D. C., 248 (L)Walter, M. A., 1321Wang, L.-W., 128Wang, M., 1027Wang, S., 731 (L)Wang, Y., 351Wang, Z., 40Wangwei, C., 887Ward, B. E., 918Ward, K., 159Ward, R. H., 368, 676Warman, M. L., 146Watanabe, A., 76Watkins, W. S., 159Watson, E., 437Weber, B. H. F., 962 (L)Weber, B. L., 547Weiler, T., 872

Weir, B. S., 497 (E), 1399 (L)Weiss, G., 437Weissenbach, J., 377, 625, 633,

1243, 1328Weksberg, R., 331Wells, J., 664Welsh, C. T., 400Welsh-Bohmer, K. A., 1306West, S., 258 (L)Weston, M. D., 1074Wexler, N., 487 (L)White, L. M., 423Whitehouse, P., 1170 (L)Whitehouse, W. P., 653Whittaker, J. L., 16Whittemore, A. S., 704Wiggs, J. L., 613Wijnen, J., 818Wilkinson-Herbots, H., 185Wilkowski, J., 140Williams, C. J., 1097Williamson, M. P., 653Willing, M. C., 799Winter, R., 744 (L)Wirth, B., 1057, 1163 (L)Wohllk, N., 510Wohrle, D., 1168 (L)Wollmann, R., 400Wolpert, C., 258 (L)Wood, N., 1328Wood, N. W., 103Wright, A. F., 152Wright, J., 839

Wrogemann, K., 872Wu, B.-L., 423Wu, K. K., 52

Xia, L., 736 (L)Xu, S., 1382

Yamada, Y., 32Yamaoka, L. H., 1306Yang-Feng, T., 417Yao, Q.-Y., 320Ye, L. L., 1252Yee, W.-C., 260 (L)Ying, D.-J., 905Yosefsberg, S., 385Yu, J., 1186Yu, L. M., 109Yu, M.-W., 128

Zabel, B. U., 146, 1288Zappacosta, B., 475 (L)Zappata, S., 834Zatz, M., 1040Zerres, K., 1057, 1163 (L)Zhang, H., 951Zhang, Z., 1210Zheng, C.-J., 268 (L), 1397 (L)Zhong, N., 478 (L), 1252Zhu, D. K., 676Zi~tkiewicz, E., 633Zinn, A. B., 1170 (L)Zlotogora, J., 879Zoppi, N., 292

1423

Subject Index for Volume 59(ASHG) = American Society of Human Genetics statement; (E) = editorial; (L) = letter to the editor; (R) = reviewarticle

ABC transporter, 66ABO, 343Acrocentric, 167Active-site residue, 52Adenomatous polyposis, 1193Adolescents, 762 (E)adRP, 864AFBAC method (affected family-based controls

method), 983 (E)Affected family-based controls method (AFBAC

method), 983 (E)Affected-pedigree-member method, 1343Affected sib pairs, 462Method, 485 (L)

Aflatoxin, 128Africa/Africans, 437, 445, 1040, 1126Age at onset, 119, 264 (L), 1233AGG interruptions, 540Aging, 591Alagille syndrome, 477 (L)Albinism, 625Allele(s)

Frequencies, 1126Genealogies, 1363Sharing, 1343Size, 360

Allele-specific primer extension, 570Allelic loss, 400Allergic bronchopulmonary aspergillosis, 45Alport syndrome, 1221Alternative splicing, 59, 66Alternative transcripts, 818Alzheimer disease, 264 (L), 664Amerindians, 213Aminoacylase II, 95Amish, 1006Amyotrophic lateral sclerosis, 1165 (L)Ancestral haplotype, 603Ancient DNA, 368Anemia, 351Aneuploidy, 176Angelman syndrome, 423Angioedema, 308Angiomyolipoma, 400Anonymous testing, 968 (L)Antibody, 1091Anticipation, 16, 264 (L), 392, 905, 973 (E), 990, 1328Aortic stenosis, supravalvular, 781APC gene, 1193

Apolipoprotein E, 664Arthritis, 1097Ascertainment bias, 726ASPA gene, 95Association studies, 462, 1119Asthma, 45Ataxia, 320, 731 (L)Autosomal dominant cerebellar, 1328Friedreich, 554Spinocerebellar, 16, 119, 392, 731 (L), 1328

Ataxia-telangiectasia, 40, 839ATM gene, 839ATP-dependent potassium channel, 510Autoimmune disease, 1097Autoimmunity, 879Autosomal recessive, 1163 (L)

B1 variant, 52Bacterial genetics, 749 (E)Balanced translocation, 999Basal cell carcinoma, 417BCL3, 743 (L), 744 (L)Beals syndrome, 1027Bedouin, 385, 741 (L)beige, 620Beige mouse, 625,-Hexosaminidase 1175, 52,B-Thalassemia, 762 (E), 793Biparental inheritance, 423Bipolar affective disorder, 1343Black Jews, 1126Blau syndrome, 1097Blindness, 146Blood proteins, 1167 (L)Bone, 146Books reviewed, author(s)/editor(s):

Christensen, B., 1403Crawford, E. C., 1403Glover, D. M., 1404Hall, K., 1405Hunt, T., 1404Hutchison, C., 1404Murray, A., 1404Ohlsson, R., 1405Phelan, M. C., 1403Ritzen, M., 1405Schroer, R. J., 1403Sweet, K. M., 1403Tarleton, J. C., 1403

1424

Subject Index for Volume 59

Taylor, H. A., 1403Books reviewed, title:

Cell Cycle: An Introduction, The, 1404Cell Cycle Control, 1404Counseling Aids for Geneticists, 3d ed., 1403Genomic Imprinting: Causes and Consequences,1405

Branching processes, 772Brazilians, 1040BRCA1, 479 (L), 486 (L), 547BRCA2, 547, 962 (L)Breast cancer, 264 (L), 486 (L), 547, 962Breast-ovarian cancer, 479 (L)

C1 inhibitor, 308CAG, 912

Repeat, 561Canavan disease, 95Cancer

Breast, 486 (L), 547, 962 (L)Breast-ovarian, 479 (L)Colon, 264 (L), 1243Hepatocellular, 128Ovarian, 264 (L), 486 (L), 547Susceptibility, 839

Carbohydrate-deficient glycoprotein syndrome, 810Carcinoma

Basal cell, 417Hepatocellular, 128

Carrier detection, 839Carrier screening, 234, 269 (L), 271 (L)CATCH22 syndrome, 7 (E)Caucasoid, 927CBFB, 990CBL2, 990cDNA

Cloning, 1210Mutations, 40

Ceiling principle, 272 (L)Cell mosaicism, 887Cerebellar ataxia, 1328Cerebellum, 392CGG repeat, 1252CGGn repeat, 540Charcot-Marie-Tooth disease, 258 (L), 260 (L)Type 1A, 12 (E), 739 (L)

Chediak-Higashi syndrome, 620, 625Chimeric genes, 1066Choreoathetosis, 135, 140Chorionic villi sampling, 918Chromatids, 176Chromatin structure, 407Chromosome

Aberrations, 918Deletion, 152

Mapping, 717Chromosome 1, 620Chromosome lq, 625Chromosome 2q, 135, 140Chromosome 3, 258 (L), 1328Chromosome 4, 855Chromosome 4q25, 1297Chromosome 5, 519, 834Chromosome 6, 653, 1210Chromosome 6p25, 1321Chromosome 7, 781, 999Chromosome 7q11.23, 958 (L)Chromosome 8, 431Chromosome 9, 385Chromosome 9q, 417Chromosome 9q31, 1313Chromosome 11, 146Chromosome 12 translocation, 1337Chromosome 13, 176Chromosome 13, 613Chromosome 14, 810Chromosome 16, 377, 1097Chromosome 16pl3.3, 603Chromosome 17, 1306Chromosome 18, 176, 999Chromosome 19, 743 (L), 744 (L)Chromosome 19q13.4, 864Chromosome 21, 66, 176, 1108Chromosome 22q11, 7 (E), 23Chromosome X, 152, 1091

Diseases, 32, 103Inactivation, 103, 887, 1091

Chromosome Y. 741 (L), 964 (L), 1108, 1126,1393 (L)

Chronic nonspherocytic hemolytic anemia, 887Cleft lip and palate, 743 (L), 744 (L)Clovis, 935Coalescent theory, 935Codominant traits, 825Cognition, 756 (E)COL4AS gene, 1221Collagen type VII, 292Colon cancer, 264 (L), 1243Community genetics, 793Comparative maps, 764 (R)Complex traits, 764 (R)Compound heterozygotes, 40, 59Concordant sib pairs, 951Conditional likelihood, 726Confidentiality, 471 (ASHG)Congenital contractural arachnodactyly, 1027Congenital disease, 810Consanguinity, 1149Contiguous-gene-deletion syndrome, 756 (E), 958 (L)Control region, 1363

1425

Subject Index for Volume 59

Cosegregation analysis, 479 (L)Cost, genetic testing, 287 (E)Cost analysis, 301Counseling, genetic, 479 (L), 793, 968 (L), 1169 (L),

1170 (L), 1186Crohn disease, 226Crossing-over, 1186Cystathionine 3-synthase, 1262, 1391 (L)Cystic fibrosis, 45, 234, 269 (L), 271 (L)Cytogenetics, 167, 176, 478 (L), 1393 (L)

D4 dopamine receptor (DRD4), 644De novo duplication, 739 (L)Deafness, 385, 1074Degeneration, 973 (E)Deletion(s), 1057Chromosome 9, 417Submicroscopic, 477 (L)

Delta F508, 269 (L)Dementia, 1306Demic diffusion, 964 (L)Demographic history, 437Desmoid tumors, 1184 (E), 1193Diabetes mellitus, 264 (L), 462, 694, 855, 1119, 1376Diabetic neuropathy, 1376Diagnostic testing, 475 (L)Dicentric Robertsonian translocation, 167Digenic inheritance, 1400 (L)DiGeorge syndrome, 7 (E), 23Dipeptidase, 1035Discordant sib pairs, 951, 1376Disease, 279 (E)

Association, 983 (E), 1134Genes, 764 (R)

Disequilibrium, 731 (L)Disinhibition-dementia-parkinsonism-amyotrophy

complex, 1306Disomy, 1108DMPK locus, 109DNA

Ancient, 368Fingerprinting, 272 (L)Identification, 1398 (L)Polymorphism, 360, 1395 (L)Profile, 1399 (L)

Dopaminergic, 644Down syndrome, 1395 (L)DPB1 association, 1134Drosophila homologue, 66Duplications, 32

Proteolipid protein gene, 12 (E)Dyskinesia, 135Dystonia, 135, 140

East Asians, 579

EcoRI blots, 847Efficient score, 704Elastin, 756 (E)

Gene, 781, 958 (L)Elliptocytosis, 351EMS assay, 76Epidermal growth factor, 1288Epidermolysis bullosa, 292Epilepsy, 135, 653Erythrocyte membrane proteins, 825Ethics, biomedical, 471 (ASHG)Etiology, 547Europe, 964 (L)European populations, 185, 1363EvolutionHuman, 501mtDNA, 501

ExonDeletions, 40Trapping, 66

Expression profile, 561Eye diseases, 146

Familial adenomatous polyposis, 1184 (E), 1193Familial amyotrophic lateral sclerosis, 1165 (L)Familial correlations, 119Familial hyperinsulinism, 510Familial Mediterranean fever, 603Family history, 547Family study, 684Fanconi anemia, 377FBN2, 1027Female meiosis, 109FiberFISH, 1297Fibrillin, 1027Fibromatosis, 1193FISH, 176, 407, 423, 918, 1091, 1108, 1337Fluctuation analysis, 749 (E)FMF gene, 603FMR1, 252 (L), 540, 1252Folic acid, 1268Forensics, 1399 (L)DNA evidence, 497 (E), 1398 (L)

Forkhead protein, 613Founder effect, 248 (L), 445, 633, 1243Founder haplotype, 603Founding lineages, 204, 213Fragile X, 407, 478 (L), 1252

Site(s), 478 (L), 847Syndrome, 252 (L), 540

Frameshift mutation(s), 279 (E), 799, 1048, 1210FRAXA, 407, 478 (L), 847FRAXE, 407, 478 (L), 847

Prevalence, 1168 (L)French Canadians, 633

1426

Subject Index for Volume 59

Friedreich ataxia, 554Frontotemporal dementia, 1306Fukuyama-type congenital muscular dystrophy, 1313Fusion gene, 343FUT2 deficiency, 343

GAA repeat, 554Galactocerebrosidase, 1233Gamma-sarcoglycan, 1040Gangliosidosis, 52, 1048Gaucher disease, 740 (L)Gene

Conversion, 834, 1057, 1066Family, 570Mapping, 872, 1337Rearrangement, 825

Genetic counseling, 479 (L), 793, 968 (L), 1169 (L),1170 (L), 1186

Genetic linkage, 983 (E)Genetic mapping, 958 (L), 1186, 1328Genetic modifiers, 119Genetic predisposition, 226Genetic research, 471 (ASHG)Genetic testing, 287 (E), 471 (ASHG), 1169 (L),

1170 (L)Genetic variation, 825, 1262Genomic imprinting, 431, 781, 1084Genomic variation, 493 (E)Genotype-phenotype, 1184 (E)

Correlation, 308Relationship, 554

Germ-line mosaicism, 268 (L), 1397 (L)Germ-line mutation(s), 486 (L), 529Gitelman syndrome, 1019Glaucoma, 613, 1321Globoid-cell leukodystrophy, 1233Glucocerebrosidase gene, 740 (L)Glucose-6-phosphate dehydrogenase, 887Glutaric acidemia type I, 1006Glutaric aciduria type 1, 1012Glutaryl-CoA dehydrogenase, 1006, 1012Glutathione S-transferase Ml and Ti, 128Glycogenosis type VII, 59Glycoprotein synthesis, 810Gorlin syndrome, 417Granulomatosis, 1097

Haploinsufficiency, 23, 76Haplotype(s)/haplotyping, 351, 879

Analysis, 872, 1126, 1313Myotonic dystrophy, 445Sharing, 1343

Hematopoiesis, 887Hepatitis B, 128Hepatocellular carcinoma, 128

Hereditary desmoid disease, 1193Hereditary motor and sensory neuropathy, 260 (L),

739 (L)Hereditary nonpolyposis colorectal cancer, 736 (L),

818, 1243Hereditary sensory and autonomic neuropathy, 258 (L)Heterogeneity, 167, 547, 855, 1163 (L)Heteroplasmic mutations, 1276Heteroplasmy, 368Heterozygosity, CF, 45Hispanics, 269 (L), 271 (L)Histone H4, 1091HLA, 226, 462, 1097, 1186,

Class II, 1134hMLH1, 736 (L), 818hMSH2, 818Holt-Oram syndrome, 1337Homocysteine, 1268Homocystinuria, 1268, 1391 (L)Homogeneity, 879Homozygosity mapping, 385, 377, 620HTR2, 1084Human Genome Project, 764 (R)Hunter syndrome, 1202Huntington disease, 1 (E), 16, 475 (L), 561, 968 (L)Hybrid genes, 1057Hyperglycemia, 1119Hyperhomocysteinemia, 262, 1262, 1268Hyperphenylalaninemia, 84Hypopigmentation, 620

Identity by descent, 485 (L), 1149, 1382Iduronate-2-sulfatase gene, 1202Imidodipeptiduria, 1035Immunodeficiency, 620Immunoglobulin heavy-chain variable region, 462Imprinting, 423, 756 (E), 1114India, 927Indo-Europeans, 927Infertility, 1393 (L)Inflammatory bowel disease, 226Informed consent, 471 (ASHG)Inheritance models, 684Insulin secretion, 510Insulin-dependent diabetes mellitus, 462, 1134, 1376Insulin-receptor gene, 1119Interferon-cc, 570Interleukine-5, 453Interval mapping, 1382Interval-6 deletion, 1393 (L)Intron retention, 59In vitro mutagenesis, 95Ion transport, 1019Ion-channel gene, 140IQ, 487 (L)

1427

Subject Index for Volume 59

Iridogoniodysgenesis, 1321Isochromosome 2p, 1114Isochromosome 2q, 1114Isodisomy 2, 1114IT1S gene, 475 (L)

Jacobsen syndrome, 990Japan/Japanese, 343, 579Jewish, 603, 1012Juvenile myoclonic epilepsy, 653

Kearns-Sayre syndrome, 591, 772Kinship, 1398 (L)Krabbe disease, 1233

Leber hereditary optic neuropathy, 103, 248 (L), 481(L), 501

Lemba, 1126Length dependence, 561Leukemia, 973 (E), 990Leukodystrophy, 95

Globoid cell, 1233LGMD2B, 872Likelihood

Conditional, 726Function, 704

LIM kinase 1, 756 (E)Limb girdle, 872Muscular dystrophy, 1040, 1400 (L)

Linkage, 146, 258 (L), 385, 625, 694, 731 (L), 879,1306

Analysis, 268 (L), 485 (L), 613, 653, 743 (L), 744(L), 855, 946, 951, 1097, 1343, 1397 (L)

Disequilibrium, 159, 879, 983 (E)Analysis, 633Mapping, 1313

Multipoint, 704Nonparametric, 704Psychiatric illness, 644

Lipoprotein lipase deficiency, 431LOD score, 704

Negative, 479 (L)Long-template PCR, 740 (L)Loss-of-function mutations, 76Loss of heterozygosity (or allelic loss), 400Luria-Delbruck analysis, 633, 749 (E), 772Lysosomal storage disease, 52

Machado-Joseph disease, 119Major gene, 453

Inheritance, 664Males, 1186Map(s)/mapping

Gene/genetic, 958 (L), 1186, 1328, 1337

Interval, 1382Physical, 625, 1288, 1297, 1328

Marker alleles, 485 (L)Martin-Bell syndrome, 1168 (L)Matching probability, 1398 (L)Maternal age effect, 268 (L), 1397 (L)Maternal isodisomy, 1114Maximum-likelihood estimation, 109Median networks, 935Meiosis, 268 (L), 1395 (L), 109Meiotic drive, 896MELAS (mitochondrial encephalomyopathy, lactic aci-

dosis, and strokelike episodes), 591Membrane skeleton, 351Mental retardation, 847Methylation, 847Methylenetetrahydrofolate, 1268

Reductase, 262 (L), 1268Microdeletion, 781Micronuclei, 1091Microsatellite, 1313

Markers, 676Migration, 204, 213Minisatellite, 360MITF gene, 76Mitochondrial genetics, 501Mitochondrial genome, 749 (E)Mitochondrial transmission, 481 (L)Miyoshi myopathy, 872MLH1, 1243Model(s), 717

Selection, 896Model organisms, 764 (R)Molecular mechanism(s), 973 (L)

Genetic anticipation, 905Mongolia, 204Mouse, 764 (R)Movement disorder, 135mRNA decay, 799mtDNA, 103, 185, 204, 213, 248 (L), 253 (L), 256 (L),

368, 437,481 (L), 493 (E), 501, 579, 591, 741 (L),749 (E), 927, 935, 1167 (L), 1276, 1363

Deletion rates, 772Mucopolysaccharidosis type II, 1202Muir-Torre syndrome, 736 (L)Multicase families, 676Multifactorial disease, 1149Multiplex PCR, 12 (E)Multipoint linkage, 704Muscular dystrophyLimb girdle, 872, 1040, 1400 (L)

Mutagenically separated PCR (MS-PCR), 159Mutation(s), 84, 262 (L), 1012, 1019, 1027, 1040,

1119, 1221, 1243,14484, 248 (L)

1428

Subject Index for Volume 59

Analysis, 95, 269 (L), 271 (L), 289 (E), 481 (L), 510,749 (E)

Ataxia, 320BRCA1, 479 (L)Canavan disease, 95Cystic fibrosis, 45Detection, 289 (E), 740 (L)SCOT, 519

Frameshift, 279 (E)Glutaric acidemia type I, 1006Hot spot, 1202Leukodystrophy, 1233Mitochondrial, 481 (L), 493 (E)Neurofibromatosis, 331Nonsense, 279 (E)Point, 591Rate, hypervariable VNTR g3 (D7S22), 360Screening, 839, 1074Spectrin, 351Splicing, 292

MyelinFormation, 32Genes, 12 (E)

Myosin VIIa, 1074Myotonia atrophica, 252 (L)Myotonic dystrophy, 445, 896

N-acetylglucosaminyltransferase II, 810Na-Cl cotransport, 1019NARP (neuropathy, ataxia, and retinitis pigmentosa),

591National Research Council report, 497 (E)Native Americans, 253 (L), 256 (L), 368

Migrations, 935Natural history, 1184 (E)Neolithic period, 185, 964 (L)Neurocristopathy, 1321Neurodegenerative disorder, 855NeurofibromatosisType 1, 159Type 2, 331, 529

Neurogenetic disorders, 1 (E)Neurological development, 810Neuropathy, 258 (L), 260 (L), 392Neurosensory deafness, 385Nevoid basal cell carcinoma syndrome, 417New World, 204, 213NF2 gene, 331, 5299-bp deletion, 579Non-Ashkenazi Jews, 603Nondeletion, 423Non-insulin-dependent diabetes mellitus, 694Nonkinesiogenic familial paroxysmal dyskinesia, 135Non-Mendelian diseases, 264 (L)Nondisjunction, 176, 1395 (L)

Nonparametric linkage, 704Nonsecretor, 343Nonsense codons, 279 (E)Nonsense mutation(s), 279 (E), 799Nonsyndromic autosomal recessive deafness, 385Norwegians, 486 (L)Nuclear insertions, 368Nucleosomes, 252 (L)Nucleotide diversity, 579Null alleles, COLlA1, 799

OB gene, 694Obesity, 694Obsessive-compulsive disorder, 684Old Order Amish, 1006Oligozoospermia, 1393 (L)Oocyte(s), 176

Selection, 268 (L), 1397 (L)Osteogenesis imperfecta type I, 799Osteoporosis, 146Ovarian cancer, 486 (L), 547Oxidative stress, 887

Paleolithic, 185Parental origin of mutation, 1202Parkinsonism, 1306Paroxysmal disorder, 140Paroxysmal dyskinesia, 135PCR, 896

Comparative multiplex, 32Errors, 368Sequence-specific oligonucleotide probe HLA typing,

1134Pedigree

Analysis, 481 (L)Error, 946

Pelizaeus-Merzbacher disease, 12 (E), 32Penetrance, 1 (E), 16PEPD, 1035Peroxisome deficiency, 1210Phenotype, 529, 980 (E)

Variant, 320Phenotype/genotype correlations, NF2, 331Phenylalanine hydroxylase, 84Phenylketonuria (PKU), 84Phosphofructokinase, 59Phylogenetic analysis, 248 (L)Phylogenetic relationship, 579Physical mapping, 1288, 1297, 1328PKU (phenylketonuria), 84Polymorphism(s), 159, 360, 912

Spectrin, 351Polynesian-Amerindian contact, 253 (L)Polynesians, 253 (L), 256 (L)Polyposis, familial adenomatous, 1193

1429

Subject Index for Volume 59

Population(s), 256 (L), 879African, 1040Amish, 1006Arab, 1012Brazilian, 1040East Asian, 579European, 185, 1363French Canadian, 633Genetics, 213, 1243Hispanic, 269 (L), 271 (L)Indo-European, 927Japanese, 343, 579Jewish, 603, 1012, 1126Native American, 253 (L), 256 (L), 368, 935Norwegian, 486 (L)Polynesian, 253 (L), 256 (L)Punjabi, 927Screening, 234Spread, 964 (L)Structure, 983 (E)Studies, 159Substructure, 272 (L)Swedish, 59Yanomami, 213

Position effect, 23Positional cloning, 764 (R)Postzygotic nondisjunction, 268 (L), 1397 (L)Prader-Willi, 423Pre-Caucasoid, 927Preferential transmission of CTG alleles, 109Premature coronary-artery disease, 1262Premature termination, 799Prenatal diagnosis, 234, 793, 918Prenatal screening, 234Presymptomatic testing, 968 (L)Proband, 726Proinsulin, 694Prolidase, 1035Promoter mutation, 308Protein-truncation test (PTT), 40, 736 (L), 818, 962 (L)Proteolipid protein gene, 12 (E)Pseudoautosomal region, 103Pseudodominant pedigrees, 1163 (L)Pseudogene, 343, 740 (L)Pseudolikelihood, 726Pseudo-vitamin D-deficiency rickets, 633Psychiatric illness, linkage studies, 644Pulmonary disease, 45Punjab, 927Pyropoikilocytosis, 351

Qualitative trait(s), 1376Loci, 951, 1382

Radiation

Hybrid, 717Sensitivity, 839

Random model, 1382Recombination, 740 (L), 1186

Rate, 1175 (E)Regressive models, 453Repetitive sequences, nucleic acid, 252 (L)Replication, 423

Timing, 407Reproductive failure, 1114Retina, 864Retinal dystrophy, 152Retinal hamartoma, 529Retinitis pigmentosa, 152, 864, 1074Retinoblastoma, 301, 1084Reunion paradox, 1400 (L)Reverse mutation, 540Reverse transcriptase-PCR (RT-PCR), 40, 818RFLP, 1084Rh

Antigens, 825Blood group, 1066

RH locus, 825Rhabdomyoma, 400Rheumatoid arthritis, 676Rickets, 633Rieger syndrome, 613, 1288, 1297RNA

Degradation, 279 (E)Splicing, 279 (E)

RNA-binding proteins, 561Robertsonian translocation, 167RP3, 152RP11, 864

Satellite III DNA, 167SCA7, 1328Schistosomiasis, 453Schizophrenia, 731 (L), 905, 912SCOT (succinyl CoA: 3-oxoacid CoA transferase), 519Screening, genetic, 234, 287 (E), 301, 762 (E)Segregation, 1276

Analysis, 453, 664, 684Distortion, 896

Seizure, 400Selection, 717Sequence diversity, 437Sequence polymorphism, 1363Sequence-tagged sites-PCR, 1393 (L)Seratonin receptor, 1084Serpins, 308Sex ratio, 1108Sib pairs, 485 (L), 1149, 1376

Analysis, 951Siberia, 1167 (L)

1430

Subject Index for Volume 59

Simulations, 1097Simultaneous search, 377Sinai, 741 (L)Skeletal muscle, 591Skin rash, 1097SMN gene, 834, 1057

Deletions, 1163 (L)Somatic mosaic, 1027Southwestern United States, 269 (L)Spectrin, 351Sperm, 896, 1108

Typing, 1186Spielman transmission-disequilibrium test, 644Spinal muscular atrophy, 834, 1057, 1163 (L)Spinocerebellar ataxia, 16, 119, 392, 731 (L), 1328Type 7, 1328

Splice site(s), 1262Mutation, 1210

Splicing mutations, 292, 320, 1391 (L)Spongy degeneration, 95Sporadic amyotrophic lateral sclerosis, 1165 (L)Sporadic breast cancer, 962 (L)SSCP, 839Subsistence patterns, 437Succinyl CoA: 3-oxoacid CoA transferase (SCOT), 519Sulfonylurea receptor, 510Superoxide dismutase, 1165 (L)Susceptibility, 676

Genetic, 547Locus, 653

Swedish, 59

Tarui disease, 59Tay-Sachs disease, 52, 762 (E), 793TDT (transmission-disequilibrium test), 644, 676, 743

(L), 744 (L), 983 (E)Telangiectasia, 320Testing, genetic, 287 (E), 471 (ASHG), 968 (L), 1169

(L), 1170 (L)The Bell Curve, 487 (L)Thiazide sensitivity, 1019Thrombosis, 262 (L)Tic disorders, 644Tissue specificity, 561Tourette syndrome, 644, 684, 980 (E), 999Transcriptional polarity, 407Transfection, 76Translocation(s), 980 (E), 1297

Balanced, 7 (E), 999Robertsonian, 167

Transmission-disequilibrium test (TDT), 644, 676, 743(L), 744 (L), 983 (E)

Trinucleotide(s), 731 (L), 990Deletion, 475 (L)Repeat(s), 1 (E), 16, 109, 119, 478 (L), 847, 905,

912, 973 (E), 1252Expansion-detection techniques, 905

Triplet disease, 554Triplet repeats, 407, 1168 (L)Trisomy, 176Trisomy 21, 268 (L), 1395 (L), 1397 (L)Truncating mutation, 962 (L)Tuberous sclerosis, 400Tumor necrosis factor-lymphotoxin, 676Tumor-suppressor gene, 400Twins, 1276Type IV collagen, 1221Typing error, 946

Ulcerative colitis, 226Unequal crossover, 343, 958 (L)Unequal rearrangement, 1057Uniparental disomy, 423, 431United States, 84Unstable DNA mutation, 905Untranslated RNA, 23Usher syndrome type 1B, 1074Uveitis, 1097

Variation, genetic, 1175 (E)Vascular disease, 262 (L)Visual loss susceptibility locus, 103VNTR loci, 272 (L)

Waardenburg syndrome type 2A, 76White gene, 66Williams syndrome, 756 (E), 781, 958 (L)Wolfram syndrome, 855

X chromosome, 152Inactivation, 103, 887, 1091

X-linked disease(s), 32, 103Y chromosome, 741 (L), 964 (L), 1126, 1393 (L)YAC, 603, 980 (E), 999YAC fragmentation, 1297Yanomami, 213Younger Dryas, 935

Zellweger syndrome, 1210

1431

THE AMERICAN JOURNAL OF HUMAN GENETICS

EDITORPeter H. Byers, M.D.University of Washington

School of MedicineSeattle, WA

MANAGING EDITORRoberta WilkesUniversity of WashingtonSeattle, WA

ASSISTANT MANAGING EDITORPatricia BaskinUniversity of WashingtonSeattle, WA

ASSOCIATE EDITORS

Anne M. Bowcock, Ph.D.University of Texas Southwestern

Medical CenterDallas, TX

Thomas W. Glover, Ph.D.University of MichiganAnn Arbor, Ml

Markus Grompe, M.D.Oregon Health Sciences

UniversityPortland, OR

Lynn Jorde, Ph.D.University of Utah

School of MedicineSalt Lake City, UT

Mary-Claire King, Ph.D.University of WashingtonSeattle, WA

James R. Lupski, M.D., Ph.D.Baylor College of MedicineHouston, TX

Roderick R. McInnes, M.D., Ph.D.The Hospital for Sick ChildrenToronto, Ontario

Kenneth Morgan, Ph.D.McGill UniversityMontreal, Quebec

Roberta A. Pagon, M.D.University of WashingtonSeattle, WA

Barbara J. Trask, Ph.D.University of WashingtonSeattle, WA

James L. Weber, Ph.D.Marshfield Medical Research

FoundationMarshfield, WI

Daniel E. Weeks, Ph.D.University of PittsburghPittsburgh, PAThe Wellcome Trust Centre forHuman Genetics

Oxford

Volume 591996

Published Monthly forTHE AMERICAN SOCIETY OF HUMAN GENETICS

BY THE UNIVERSITY OF CHICAGO PRESS

THE AMERICAN SOCIETY OF HUMAN GENETICS

BOARD OF DIRECTORSPresident

Charles J. Epstein, M.D.University of California, San

FranciscoSan Francisco, CA

President-ElectLarry J. Shapiro, M.D.University of California School ofMedicine

San Francisco, CA

Diane Baker, M.S.University of MichiganAnn Arbor, Ml

Aravinda Chakravarti, Ph.D.Case Western Reserve University

School of MedicineCleveland, OH

Thomas D. Gelehrter, M.D.University of Michigan Medical

SchoolAnn Arbor, Ml

SecretaryAnn C. M. Smith, M.A.Georgetown UniversityWashington, DC

TreasurerStephen 1. Goodman, M.D.University of Colorado Health

Sciences CenterDenver, CO

EditorPeter H. Byers, M.D.University of Washington

School of MedicineSeattle, WA

Directors

Michael R. Hayden, M.D., Ph.D.University of British ColumbiaVancouver, BC

Jeffrey C. Murray, M.D.University of IowaIowa City, IA

Philip R. Reilly, M.D., J.D.Shriver Center for Mental

Retardation, Inc.Waltham, MA

President 1994Maimon M. Cohen, Ph.D.University of Maryland School ofMedicine

Baltimore, MD

President 1995Judith G. Hall, M.D.University of British ColumbiaVancouver, BC

Stephanie Sherman, Ph.D.Emory University School ofMedicine

Atlanta, GA

Huntington F. Willard, Ph.D.Case Western Reserve University

School of MedicineCleveland, OH

Savio L. C. Woo, Ph.D.Baylor College of MedicineHouston, TX

1996 by The American Society of Human Genetics

Contents of Volume 59

July 1996

Invited Editorials1 Huntington Disease-Another Chapter Rewritten

Martha A. Nance

7 How Many Breaks Do We Need to CATCH on 22q1 1?Bruno Dallapiccola, Antonio Pizzuti, and Giuseppe Novelli

12 The Proteolipid Protein Gene: Double, Double,. . . and TroubleM. E. Hodes and S. R. Dlouhy

Original Articles16 Phenotypic Characterization of Individuals with 30-40 CAG Repeats in the Huntington Disease (HD)

Gene Reveals HD Cases with 36 Repeats and Apparently Normal Elderly Individuals with 36-39 RepeatsDavid C. Rubinsztein, Jayne Leggo, Rhian Coles, Elisabeth Almqvist, Valerie Biancalana, Jean-Jacques Cassiman,Kokila Chotai, Margaret Connarty, David Craufurd, Anne Curtis, Diana Curtis, Mark J. Davidson, Anne-Marie Differ,Catherine Dode, Alan Dodge, Marina Frontali, Neal G. Ranen, 0. Colin Stine, Meeia Sherr, Margaret H. Abbott, MaryL. Franz, Colin A Graham, Peter S. Harper, John C. Hedreen, Anthony Jackson, Jean-Claude Kaplan, MoniqueLosekoot, John C. MacMillan, Patrick Morrison, Yvon Trottier, Andrea Novelletto, Sheila A. Simpson, Jane Theilmann,Joanne L. Whittaker, Susan E. Folstein, Christopher A. Ross, and Michael R. Hayden

23 Identification of a Novel Transcript Disrupted by a Balanced Translocation Associated with DiGeorgeSyndromeHelen F. Sutherland, Roy Wadey, Judith M. McKie, Catherine Taylor, Uzma Atif, Karen A. Johnstone, StephanieHalford, Ung-Jin Kim, Judith Goodship, Antonio Baldini, and Peter J. Scambler

32 A Duplicated PLP Gene Causing Pelizaeus-Merzbacher Disease Detected by Comparative Multiplex PCRKen Inoue, Hitoshi Osaka, Naoya Sugiyama, Chiaki Kawanishi, Hideki Onishi, Atsuo Nezu, Kazue Kimura, SeijiKimura, Yoshiteru Yamada, and Kenji Kosaka

40 Ataxia-Telangiectasia: Mutations in ATM cDNA Detected by Protein-Truncation ScreeningMilhan Telatar, Zhijun Wang, Nitin Udar, Teresa Liang, Eva Bernatowska-Matuszkiewicz, Martin Lavin, Yosef Shiloh,Patrick Concannon, Robert A. Good, and Richard A. Gatti

45 Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutations in AllergicBronchopulmonary AspergillosisPatrice Weiner Miller, Ada Hamosh, Milan Macek, Jr., Paul A. Greenberger, James MacLean, Sandra M. Walden,Raymond G. Slavin, and Garry R. Cutting

52 The Val'92Leu Mutation in the a-Subunit of P-Hexosaminidase A Is Not Associated with the B1-VariantForm of Tay-Sachs DiseaseYongmin Hou, George Vavougios, Aleksander Hinek, Kui Kui Wu, Peter Hechtman, Feige Kaplan, and Don J.Mahuran

59 Glycogenosis Type VII (Tarui Disease) in a Swedish Family: Two Novel Mutations in MusclePhosphofructokinase Gene (PFK-M) Resulting in Intron RetentionsRalph C. Nichols, Olle Rudolphi, Borje Ek, Rachel Exelbert, Paul H. Plotz, and Nina Raben

1435

66 Cloning of the cDNA for a Human Homologue of the Drosophila White Gene and Mapping toChromosome 21q22.3Haiming Chen, Colette Rossier, Maria D. Lalioti, Audrey Lynn, Aravinda Chakravarti, Gaelle Perrin, and Stylianos E.Antonarakis

76 Analyses of Loss-of-Function Mutations of the MITF Gene Suggest That Haploinsufficiency Is a Cause ofWaardenburg Syndrome Type 2AYoshitaka Nobukuni, Atsushi Watanabe, Kazushisa Takeda, Hana Skarka, and Masayoshi Tachibana

84 Phenylalanine Hydroxylase Gene Mutations in the United States: Report from the Maternal PKUCollaborative StudyPer Guldberg, Harvey L. Levy, William B. Hanley, Richard Koch, Reuben Matalon, Bobbye M. Rouse, Friedrich Trefz,Felix de la Cruz, Karen Friis Henriksen, and Flemming Guttler

95 Identification and Expression of Eight Novel Mutations among Non-Jewish Patients with Canavan DiseaseRajinder Kaul, Guang P. Gao, Reuben Matalon, Maria Aloya, Quin Su, Mei Jin, Anne B. Johnson, Ruud B. H.Schutgens, and J. T. R. Clarke

103 Evidence against an X-Linked Visual Loss Susceptibility Locus in Leber Hereditary Optic NeuropathyR. M. Chalmers, M. B. Davis, M. G. Sweeney, N. W. Wood, and A. E. Harding

109 Segregation Distortion of the CTG Repeats at the Myotonic Dystrophy LocusRanajit Chakraborty, David N. Stivers, Ranjan Deka, Ling M. Yu, Mark D. Shriver, and Robert E. Ferrell

119 A Familial Factor Independent of CAG Repeat Length Influences Age at Onset of Machado-JosephDiseaseAnita L. DeStefano, L. Adrienne Cupples, Patricia Maciel, Claudia Gaspar, Joao Radvany, David M. Dawson, LewisSudarsky, Lee Corwin, Paula Coutinho, Patrick MacLeod, Jorge Sequeiros, Guy A. Rouleau, and Lindsay A. Farrer

128 Chronic Hepatitis B Carriers with Null Genotypes of Glutathione S-Transferase Ml and TiPolymorphisms Who Are Exposed to Aflatoxin Are at Increased Risk of Hepatocellular CarcinomaChien-Jen Chen, Ming-Whei Yu, Yun-Fan Liaw, Lian-Wen Wang, Sinnabhatr Chiamprasert, Farhan Matin, AriHirvonen, Douglas A. Bell, and Regina M. Santella

135 A Gene for Familial Paroxysmal Dyskinesia (FPD1) Maps to Chromosome 2qGameil T. Fouad, Serenella Servidei, Simon Durcan, Enrico Bertini, and Louis J. PtN&ek

140 Paroxysmal Dystonic Choreoathetosis: Tight Linkage to Chromosome 2qJohn K. Fink, Shirley Rainier, Jodi Wilkowski, Sandra M. Jones, Akito Kume, Peter Hedera, Roger Albin, Joan Mathay,Lynette Girbach, Tena Varvil, Brith Otterud, and Mark Leppert

146 Osteoporosis-Pseudoglioma Syndrome,