Flash Notes Genetics

8/20/2019 Flash Notes Genetics

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GENETICS | 1

Gene/ Protein/Oncogene/

Chromosome

Disease Things to remember

α SYNUCLEIN Proteinand

PARKIN GeneMutation

PINK 1 Gene

Alpha Synucleinopathy

u!enile "n#etPar$in#on%# &i#ea#e

• Ma#$'li$e (ace• S)all hand*ritin+

,)icro+raphia-.de)entia

• &ecrea#ed

/lin$in+• 0ypophonia• Shuin+ +ait• 2all3 the MC

pro/le) inPar$in#on%#

A##ociated *ith3• Parkinson’s di#ea#e ,a4$4a4

Paralysis Agitans-e4+4 Michael 42o5. Muha))ad Ali.2reddie Roach2our )otor #y)pto)#3

1. Unilateral Resting tremors(“pill-rolling” of hands)

2. Cogwheel!eadpipe rigidity ". #rady$inesia A$inesia%. Post&ral insta'ility (“stooped”

post&re)

Lack of Dopamine in par#co)pacta neuron# o( the Su/#tantia

Ni+ra 6yro#ine3 the a)ino acid precur#or o( dopa)ine

Levodopa + Carbidopa. Sele+iline.Ra#a+ilineC"M6 inhi/itor# ,entacapone.tolcapone-Anticholiner+ic# ,trihe5yphenidyl./en7tropine-A)antadine

0aloperidol3 the MC dru+ that cau#e#

Par$in#oni#) 80aldol #hue9,Antidote3 :iperiden,A$ineton--

Accu)ulation o( Lewy Bodies Multiple Sy#te) Atrophy ,MSA-

A&IN"PEC6IN An anti'in;a))atorycyto$ine

• Produced e5clu#i!ely /yadipocyte#

• Enhance# insulinsensitivity . and inhi/it#)any #tep# in in;a))ation

•

Reduced in Meta/olicSyndro)e. hence. cau#in+the in#ulin re#i#tance

ALK protein Anaplasti lymphoma

$inaset!"#$

Anapla#tic lar+e cell< nullcell ly)pho)a

• :one )arro* in=ltration o()onoclonal B cell#> ,for then&llnon-* + non-#-

• S)ud+e cell# ,/a#$et cell#-• *< imm&nopositi,ity to C"

a.$.a. /i-1

• Clu#terin. another )ar$er

that *ould di?erentiate (ro)0od+$in%#• 0a!e a +ol+i'#tainin+ pattern

Anti'CEN6R"MERE. 6he li)ited cutaneou# CRES6 Syndro)e ,the acrony)-


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GENETICS | *

6hy)o)a3 the MC a##ociated tu)or*ith MG&"C3 Pyrido#ti+)ineAlt43 Neo#ti+)ine

Anti'ri/o#o)al P A/ P#ycho#i# F to CNSlupu#

Anti'Ro A/ Neonatal Lupu# Con+enital heart /loc$

Anti'SCL' Anti/odya4$4a4

Anti'topoi#o)era#e I

Anti'nuclear anti/odie#3Anti'RNA poly)era#e I.

II. and III

Anti'UJ RNP

&i?u#e Sy#te)icScleroder)a

• "!erproduced 6ran#(or)in+Gro*th 2actor

• CRES6 #yndro)e• -A2& ,+a#tric antral !a#cular

ecta#ia- al#o $no*n a#8watermelon stomah”

•

Mali+nant hyperten#ion• May /e cau#ed /y

Bleomycin and 'aane

• 6he Anti'UJ RNP i# al#o hi+hly#peci=c (or SSc *ith)u#culo#$eletal. +a#tric andpul)onary in!ol!e)ent

• Sclerede)a ,sleredemaad&ltor&m of #&sh$e-'predo)inantly in children>painle## ede)atou#induration in!ol!in+ the (ace.#calp. nec$. trun$. andpro5i)al portion# o( thee5tre)itie#

• Patient# *ith in#ulin'dependent dia/ete# )ellitu#)ay de!elop di+ital #clero#i#and contracture# , prayerhand deformity -

Anti'o 1 In;a))atory Myopathy

Antipho#pholipid A/ APAS,anti'pho#pholipid

anti/ody #yndro)e-

Clottin+ predi#po#itionRepeated (etal lo## 6hro)/ocytopenia

Anti'U1 RNP Mi5ed Connecti!e 6i##ue&i#ea#e

8o!erlap #yndro)e9

• In O'1Q o( patient#• 0a# (eature# o( So+ren%#

#yndro)e• 0a# (eature# o( Scleroder)a

,CRES6 #yndro)e-• 0a# (eature# o( SLE3 )alar

ra#h. photo#en#iti!ity. di#coidle#ion#. alopecia. pain(ul oralulcer#

• Pul)onary arterial


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GENETICS | +

hyperten#ion i# the )o#tco))on cau#e o( death

APC Gene,Adeno)atou#Polypo#i# Coli-

,ami%ia% 'denomatousPo%$-osis

a..a. Gardner0s

s$ndrome,)utation# in APC +ene-

Co%orecta% Cancer,inacti!ation o( APC

+ene-remem'er 8-9U

APC +ene i# located in the lon+ ,D-ar) o( Chro)o#o)e 3#4!56

Allelic loss3 production o( an APCprotein that i# a/nor)ally #hort andnon(unctional

#u/#titution o( the a)ino acid lycine(or isoleucine at po#ition 1J inthe APC protein

beta.catenin. i# controlled /y theAPC protein> pre!ent# cello!er+ro*th

AP"LIP"PR"6EIN EH,AP"EH-

Pre'Senilin IPre'Senilin II

Al7hei)er%# &i#ea#e • Neuro=/rillary tan+le#co)po#ed o( a/nor)allypho#phorylated 6au protein

• A)yloid protein#> located inChro)o#o)e F1 #enileplaDue#

,N"6E3 co))on (actor /et*een A&and &o*n%# #yndro)e3 chro)o#o)eF1-

• 0ippoca)pal atrophy• ,- 0irano /odie# in the

neuron#• A!era+e duration3 '1 year#• End #ta+e3 Pt *ill /e ri+id.

)ute. incontinent. /edridden• 6ACRINE3 a )edicine (or A&

/ut not u#ed any)ore• &"C3 Anti'

Aceylcholine#tera#e Inhi/itor,to pre!ent (urther/rea$do*n o( the 8already'depleted9 le!el# o( Ach-

A6ATIN'1 Gene Spinocere/ellar ata5ia

Machado o#eph &i#ea#e

SCA 6ype 13 C A - repeat @p0yper)etric #accade#Slo* #accade#Upper )otor neuron

SCA 6ype F3 C A - repeat 1FD&i)ini#hed !elocity #accade#Are;e5ia

SCA 6ypeJ3 C A - repeat 1HDGa7e e!o$ed ny#ta+)u#Slo* #accade#Upper )otor neuron

A6M +ene Inacti!ated in 'taiate%angiectasia

Encode# a $ina#e e##ential (or pJacti!ityCharacteri7ed /y hyper#en#iti!ity to

http://en.wikipedia.org/wiki/Amino_acidhttp://en.wikipedia.org/wiki/Isoleucinehttp://en.wikipedia.org/wiki/Isoleucinehttp://en.wikipedia.org/wiki/Isoleucinehttp://en.wikipedia.org/wiki/Beta-cateninhttp://en.wikipedia.org/wiki/Amino_acidhttp://en.wikipedia.org/wiki/Isoleucinehttp://en.wikipedia.org/wiki/Beta-catenin


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GENETICS | 2

5ray# and predi#po#ition toly)pho)a#

A!idin /loc$# the co'en7y)e:I"6IN3 Bit4:


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GENETICS | 3

(eed/ac$ #i+nal# that stop eatin*be(avior

:RCA1 ,1D-:RCAF ,1JD-,onco+ene#-

"!arian CA:rea#t CA

ReDuired (or pJ acti!ity

Char+a?%# rule 131 ratio o( Purine# andPyri)idine#

'denine al*ay# pair# *ithThy)ine 8cat%# )eo*9> cat%#eye#' epcanthal (oldchro)o#o)e p deletion#yndro)e auto#o)al rece##i!e,- Chloride #*eat te#t ,X))ol


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GENETICS | 6

Ata5ia. ny#ta+)u#.$ypho#colio#i#. pe# ca!u#,hi+h arched (oot-Spinal cord /eco)e#thinner de)yelinationMental (unction# are not

a?ected

6reat)ent3 I&E:EN"NE

-rotein ,ratain# an iron /indin+protein re#pon#i/le (or (or)in+ iron'#ulphur clu#ter#

(rata5in de=ciency i# )itochondrialiron o!erload *hich can cau#eda)a+e to )any protein#

E-anded G ' ' triple repeat#>auto#o)al rece##i!e

C0R"M"S"ME 1 Re(#u)%# di#ea#e Phytanoyl Co'A de=ciency,or Phytannic acid-

C0R"M"S"ME 1J Patau Syndro)e 6ri#o)y 1J 9:;5"Li 2rau)eni Syndro)e

Lon* arm"5:4""!arian cancer

Cana!an%# di#ea#e

Ca(Z au Lait Spot#Li#ch nodule# on iri#Neuro=/ro)ato#i# I

6pJ 6u)or Suppre##or GeneGuardian o( the Geno)eSe!eral cancer# are in!ol!ed

0ereditary cancer> +er)line)utation# o( :RCA tu)or #uppre##or

+ene

&e=ciency o( a#partocycla#e ora)inocycla#e F le!el# o( N'acetyla#partate are chronically ele!ated


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GENETICS | 7

Pro+re##i!e de)yelination o( ner!ecell# in the /rain death /e(ore a+eH

C0R"M"S"ME 1 Ed*ard# Syndro)e 6ri#o)y 1

H.TT.1

• Pro)inent occiput. MR.)icro+nathia

• Lo* #et ear#. #hort nec$• Clenched =#t. o!erlappin+

=n+er#• 0eart and renal

)al(or)ation#• Li)ited hip a/duction• Roc$er'/otto) (eet

C0R"M"S"ME F1 &o*n%# Syndro)e 6ri#o)y F1 ,H.TY.F1-

• 2lat (acie#. o/liDue palpe/ral=##ure. epicanthic (old#.simian hand reases

• Con+4 heart di#ea#e• Recurrent in(ection#• Acute ly)pho/la#tic leu$e)ia

,[ri#$-• Pre)ature Al7hei)er%#

di#ea#e• &uodenal atre#ia

Colla+en 6he )o#t a/undantprotein in the /ody>

0ydro5ylation o( Glycine.Proline into

0ydro5yproline and0ydro5yly#ine

BI6AMIN C cro## lin$# colla+en>#cur!y i# due to it# de=ciency

6ropocolla+en3 J polypeptide chain#

c'UN +ene Proto'onco+ene I)portance3A +ro*th'pro)otin+ +ene 6ran#cription re+ulationNe+ati!e re+ulation o( &NA /indin+

C'KI6 onco+ene Ga#tro'inte#tinal Stro)al 6u)or#,GIS6#-

6u)or# are o( )e#oder)al,inter#titial cell# o( Caal-

• :leedin+ or GI o/#truction•


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GENETICS | 18

#yntha#e

CYPF1A F1'0ydro5yla#ede=ciency

Mutation# in thi# +ene cau#e#defeti,e on,ersion o( pro+e#teroneto 11'deo5ycortico#terone

14 Salt'*a#tin+ #yndro)e3

co)plete de=ciency o( F1'hydro5yla#eF4 Si)ple !irili7in+ adreno+enital

#yndro)e *ithout #alt*a#tin+

J4 Non'cla##ic ,late on#et-adrenal !irili#)3 partial F1'hydro5yla#e de=ciency acne. hir#uti#). )en#trualirre+ularitie#

&NA 0ELICASE

)utation

erner #yndro)e • Pre)ature a+in+• accelerated accu)ulation o(

chro)o#o)al da)a+e• )i)ic# the inury that

nor)ally acco)panie# a+in+

&YNEIN de(ect Pri)ary Ciliary&y#$ine#ia

Karta+ener%# #yndro)e 6riad3

14 Situ# in!ertu# ,de5trocardia-F4 Chronic #inu#iti#J4 :ronchiecta#i#

&YS6R"P0IN,the :IG +ene-

&uchenne Mu#cular&y#trophy

• MC (or) o( childhood)u#cular dy#trophy

• ,- Go*er%# Si+n• P#eudohypertrophy o( the cal( • 2ra)e#hi(t )utation in O@Q• Ne* )utation in JQ

&Y6J Gene T&PSe5'lin$ed &y#tonia o(

Panay

2ound in Panay I#land Philippine#,L1BA-/

• uniDue to adult 2ilipino )en

• pronounced atrophy o( thecaudate and putamen

,u#t li$e 0untin+ton%#di#ea#e-

Er/':F ,0erF


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GENETICS | 1

and tran#criptional#uppre##ion

• A?ected )ale#3 pro+re##i!eneurode+eneration. #e!ereMR. enlar+ed te#te#

• A?ected (e)ale3 pre)atureo!arian (ailure

2RA6ATIN Gene(a mitohondrial

protein)

2riedreich%# Ata5ia • e5pan#ion o( an intronic - A A triplet repeat>

• are;e5ia. up+oin+ toe#.!i/ration and po#ition #en#ede=cit#. #colio#i#. cardiomyopat(y . ha))ertoe#

• )debenone. a (ree'radical#ca!en+er. )ay i)pro!e)yocardial hypertrophy in

2A• iron chelator# and antio5idant

dru+# can increa#e)yocardial inury in 2A

G0RELIN the hun+er hor)one increa#e# the appetite and (a!or# theaccu)ulation o( a/do)inal (at#produced )ainly /y Paline : aple syr&p&rine disease

• Mi##en#e Mutation• 0e)olytic cri#i# ' ane)ia• SeDue#tration cri#i# ' #pleen• Par!o!iru# :1O tri++er#

Apla#tic cri#i#• :ene=t (ro) routine 2lu

!accine• Sic$le #hape +i!e# re#i#tance

to Malaria•

indi+enou# inha/itant#o( Su/'Saharan A(rica

GRAN^YME : • A C6L'deri!ed #erine protea#e

http://en.wikipedia.org/wiki/Indigenous_peopleshttp://en.wikipedia.org/wiki/Sub-Saharan_Africahttp://en.wikipedia.org/wiki/Indigenous_peopleshttp://en.wikipedia.org/wiki/Sub-Saharan_Africa


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GENETICS | 1!

Acti!ate# )ultiple ca#pa#e#. there/y.directly inducin+ the e?ector pha#eo( apopto#i#

0ER'F onco+ene :rea#t carcino)a • Indicate# a poor pro+no#i# i(,-

• Can /e treated *ith tar+etedtherapy. #uch a# 6ereptin

0i#tidine 6he /u?erin+ capacity o( he)o+lo/ini# due to thi# a)ino acid re#idue

0LA :F An$ylo#in+ Spondyliti#(a.$.a. arie ?tr&mpell

disease #ehterew7s disease)

Reiter%# Syndro)e

:ehcet%# #yndro)e

MC Serone+ati!e Spondylo'arthropathy“'am'oo spine appearane” ,- Scho/er 6e#t3 li)itation o(lu)/ar ;e5ion,- Sacroiliti# on TRay

'riad 314 In;a))atory ,reacti!e-

arthriti#F4 Conuncti!iti# ,u!eiti#-J4 Urethriti# ,in )en- or

Cer!iciti# ,in *o)en-

• Keratoder)a /lenorrha+ica)o#t co))on tri++er# are inte#tinal

in(ection# *ith Salmonella ;S(i*ella or Campylobacter and#e5ually tran#)itted in(ection#*ith C(lamydiatrac(omatis or 7eisseria*onorr(eae

• "ral and +enital ulcer#• U,eitis ( 6!A #2@ )

• Pro+re##i!e optic atrophy• Intracranial hyperten#ion *ith

papillede)a

0LA :H F1'hydro5yla#e&e=ciency

0LA &RF SLE

0LA &RJ • Pri)ary So+ren%##yndro)e

• &ia/ete# Mellitu#

type 1• SLE• Po#t+onococcal

arthriti#

Sicca #yndro)eSchir)er%# te#t

http://en.wikipedia.org/wiki/Salmonellahttp://en.wikipedia.org/wiki/Shigellahttp://en.wikipedia.org/wiki/Campylobacterhttp://en.wikipedia.org/wiki/Chlamydia_trachomatishttp://en.wikipedia.org/wiki/Chlamydia_trachomatishttp://en.wikipedia.org/wiki/Chlamydia_trachomatishttp://en.wikipedia.org/wiki/Neisseria_gonorrheaehttp://en.wikipedia.org/wiki/Neisseria_gonorrheaehttp://en.wikipedia.org/wiki/Salmonellahttp://en.wikipedia.org/wiki/Shigellahttp://en.wikipedia.org/wiki/Campylobacterhttp://en.wikipedia.org/wiki/Chlamydia_trachomatishttp://en.wikipedia.org/wiki/Chlamydia_trachomatishttp://en.wikipedia.org/wiki/Neisseria_gonorrheaehttp://en.wikipedia.org/wiki/Neisseria_gonorrheae


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GENETICS | 1*

"9' DR*,&R 1_H1-[[[ri#$

,&R 1_HH-,&R 1_11-

%(eumatoid @actor

in @@Q o( P5

Anti.CyclicCitrullinated Peptide

,anti'CCP-OQ #peci=cityIndicate# poor

pro+no#i#

Rheumatoid 'rthritis

6N2'α3 in;a))ation.(e!er. /one and cartila+ere#oprtion

IL'1α3 attac$# thy)o#ite#and neutrophil#IL'13 attac$# :6 cell#.and ti##ue cell#IL'@3 di?erentiation and/one re#orption

Rheu)atoid nodule

CA& and carotidathero#clero#i#3 MCcau#e o( death in RA p5

Per#i#tent in;a))atory #yno!iti#• MC (or) o( C0R"NIC arthriti#• Sy))etric polyarthriti#.

re#ult# in oint da)a+e• Sy#te)ic di#ea#e *ith

e5traarticular )5 ,XJoint#->

#


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GENETICS | 1+

K'RAS Gene Colorectal CAPancreatic CA

Lun+ CANoonan #yndro)e

Cardio'(acio'cutaneou##yndro)e

MC #ite3 Si*moid colon

An onco+ene that i# a G'PR"6EIN

A )olecular ono #*itch

LEP6IN )n(ibits appetite /y counteractin+the e?ect# o( neuropeptide 3 apotent (eedin+ #ti)ulant #ecreted /ythe cell# in the +ut and in thehypothala)u#

• Reduced in Meta/olicSyndro)e

Microphthal)iaa##ociated tran#cription

(actor ,MI62- +ene

6iet7% #yndro)e &ea(ne##Al/ini#)Leuci#)(defets in all types s$in pigmentsBnot &st melanin)

Mirror i)a+e# Enantio)er# ,in /ioche)-Reed'Stern/er+ cell# ,in patho-

Moti( 0eli5 to heli5^inc =n+er

Leucine 7ipper

SeDuence pattern o( nucleotide# in a&NA #eDuence or a)ino acid# in aprotein

NAGA +ene Schindler di#ea#e(a.$.a. /anDa$i disease)

α'N'acetyl+alacto#a)inida#ede=ciency

I4 6ype I ,In(antile-3 )ore#e!ere. *ith neurolo+ical andneuro)u#cular #y)pto)#

II4 6ype II ,Adult-3 )ilder>an+io$erato)a#. )ildintellectual i)pair)ent

III4 6ype III ,Inter)ediate-3#ei7ure#. MR. auti#tic'li$e/eha!ior. delayed #peech

NRAM Genetic protein,Natural Re#i#tance

A##ociatedMacropha+e-

AI&SMyco/acteriu) A!iu) Intracellulare(E!ady Findermere syndromeE)

collar#tud a/#ce##

P'1@ Pancreatic CA • Bery #peci=c (or pancreaticCA

• 6he )o#t (reDuentlyinacti!ated tu)or #uppre##or+ene

P'J 6u)or Suppre##orGene

9i:,raumeni S$ndrome#e!eral $ind# o(

CA7C&% are in!ol!ed>o(ten appear# at a yo&ng

-uardian of t(e -enome

• 6PJ a##i#t# in repair orde#truction o( /ad orda)a+ed &NA


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GENETICS | 13

Ra)achandran Plot 6he an+le# o( the t*o )o#t co))ontype# o( #econdary #tructure. α'heli5and #heet. (all *ithin the lo*er andupper le(t'hand Duadrant#

R/ 1JD,onco+ene- Retino/la#to)a

"#teo#arco)a

2le5ner'inter#teiner p#eudoro#ette#

8#un/ur#t pattern9 on Tray

S'1 protein A# tu)or )ar$er (or3• Mali+nant

Melano)a• Mali+nant

Peripheral Ner!eSheath tu)or#

• Sch*anno)a•

0i#tiocyto)a• Clear Cell

Sarco)a

)c3 Super=cial Spreadin+ type or thene#ted patternDysplastic nevus3 precur#or o(MMelano)a

S Pha#e 6he pha#e i# the cell cycle *hen &NAunder+oe# replication

Shine'&al+arnoSeDuence

• Ri'osomal 'inding site in the

mR3A +enerally locatedup#trea) o( the #tart codon<initiatin+ codon3 AUG

• 0elp# recruit the ri/o#o)e# tothe )RNA to initiate protein#ynthe#i# /y ali+nin+ it *iththe #tart codon

• 2ound in pro$aryotes• Core &NA #eDuence3

+0T'T'''!0• ;o&a Se


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GENETICS | 16

he)oly#i#• ,- 6owell-Holly 'odies

Ane)ia. hyper/iliru/ine)ia.#pleno)e+aly

S6K11 +ene on

Chro)o#o)e 1O,)utation-

Peut7'e+her# #yndro)e

(a.$.a. hereditary intestinal polysposis

syndrome)

:eni+n ha)arto)atou# polyp# o( the

GI6• 0yperpi+)ented )acule#

around the lip# and oral)uco#a

"ral =ndin+# are #a)e *ithAddi#on%# di#ea#e and McCuneAl/ri+ht

6a)) 0or#(all protein Uro)odulinProtein in the $idney tu/ule#

6A6A :o5 a4$4a4 Gold/er+'0o+ne##:o5

A &NA #eDuence ,ci# re+ulatoryele)ent- (ound in the pro)oterre+ion o( +ene# in eu$aryote#

6AU Protein 6aupathy

Al7hei)er%# di#ea#e

?yperp(osp(orylation *ill lead to#el('a##e)/ly o( tan+le# o( pairedhelical =la)ent# and #trai+ht=la)ent#

at#on and Cric$

)odel o( &NA

!*=3 one co)plete turn

or heli5 pitch o( theat#on and Cric$

6eliase3 the en7y)ethat *ill un*ind the &NAheli5

&ecri/e# the &NA a# (ollo*in+3

• :a#e pairin+• 0elical• Ri+ht'handed• Co)pli)entary #trand#• Anti'parallel #trand#• Su+ar'pho#phate /ac$/one

out#ide and /a#e# #tac$edin#ide

• 6*i#ted ladder #tructure


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Flash Notes Genetics