1.1 Genes to Protein, Genetics & Inheritance_PRINT_session_note

7/21/2019 1.1 Genes to Protein, Genetics & Inheritance_PRINT_session_note

http://slidepdf.com/reader/full/11-genes-to-protein-genetics-inheritanceprintsessionnote 1/65

OLILTC@P



^FRT 6; Olils ta pratlcis

• Dlecil f olil fid lxphfci tml pf`gfocio ae olil cita `mrajftci fid `mrajasajls

• Dls`rcbl tml pra`lssls ae DIF rlphc`ftcai, trfis`rcptcai fid trfishftcai

• Lxphfci tml rahl ae jlcascs ci oliltc` vfrcfbchcty

^FRT 2; Cimlrctfi`l

• \idlrstfid tml pra`lss ae cimlrctfi`l ae trfcts

• Dls`rcbl tml dceelrli`l bltwlli futasajfh fid slx-hcigld cimlrctfi`l fid dajcifit,

rl`lsscvl fid à-dajcifit trfcts

• Drfw fid citlrprlt oliltc` pldcorlls.

AULRUCL_ AE OLILTC@PHlfricio Abkl t̀cvls

2



OLILP TA ^RATLCIP

(mttp;//www.`lhh.àj/`lhh/cssul1pcc:P>>32-=5?4%2=64%23]>>22-]7 Mussfci lt fh. 2>64, p. 5>>, p. 5>6)



AULRUCL_ AE OLILP-^RATLCIPOliltc̀ s ‐ Tfbhl ae @aitlits

4

Jfci tapc` @aitlits

Iu`hlc` f`cds • DIF

• RIF

Olil • Dlecictcai & eui`tcaiOliajl • Dlecictcai

@mrajasajl • DIF, Olil & @mrajasajl

• Ptru`turl

• Typls ‐ futasajfh & slx

^ratlci syitmlscs • Trfis`rcptcai• Trfishftcai

Olil lxprlsscai • @lhh dceelrlitcftcai

• Olil, pratlcis & trfcts



Iu`hlc` f`cd, àjpasld ae;

6) Ictraoliaus bfsls (x4)

2) plitasl suofr

0) pmaspmftl oraup

Typls ae Iu`hlc` F`cd

• DIF

• RIF

I\@HLC@ F@CDP F oraup ae arofic̀ jahlùhls ‐ Jf`rajahlùhls

<mttp;//fpbrwww<.fpsu.ldu/tmajpsaik/Fiftajy%2>&%2>^myscahaoy/2>6>/2>6>%2>Lxfj%2>Rlvclws/Lxfj%2>6%2>Rlvclw/RIF-àjpfrld-ta-DIF.pio



• Cif`tcvl ci mlhc`fh DIF• Rlphc`ftls ctslhe blearl jctascs

• Lisurl oliltc` àitciucty

DLA]SRCBAI\@HLC@ F@CD (DIF) F daubhl-strfidld mlhc̀ fh jahlùhl, eauid ci tml iu h̀lus ae ̀ lhh

5(Gulmi 2>62, p. 6463)

Eui`tcai

: pravcdls cistru`tcais ear pratlci syitmlscs



PTR\@T\RL AE DIF F daubhl-strfidld mlhc̀ fh jahlùhl, eauid ci tml iu h̀lus ae ̀ lhh

?(Jadcecld eraj Fttcf lt fh. 2>>3, p. ?5)

Puofr; dlaxyrcbasl

Ictraoliaus bfsls

6) Fdlicil2) Tmyjcil

0) Ouficil

4) @ytascil

@ajphljlitfry pfcrcio

• Fdlicil-Tmyjcil (:)

• Ouficil-@ytascil (≦)

Mydraoli baid (2)

Mydraoli baid (0)



@ajpfrld wctm DIF, RIF;

• F sciohl strfid

• mfs rcbasl (suofr)

• mfs \ (cistlfd ae T)

Eui`tcais/Rahls

• F DIF dlàdcio systlj

• F`ts fs DIF jlssliolr

• civahvld ci pratlci syitmlscs

RCBAI\@HLC@ F@CD (RIF)Ci ̀ ajpfrcsai wctm DIF

=mttp;//cjo.brlfgciojus`hl.àj/sctls/dlefuht/echls/cjfol`f`ml/euhhQwcdtm/cjfols/bydftl/2>60>22>/smuttlrsta`g3=<456=3àpy.kpo



• f pmysc`fh uict ae cimlrctfi`l

• f olil : f pahyplptcdl

• hfrolhy citf`t

OLIL F eui t̀caifh uict ae DIF ‐ ̀ adls lvlry pratlci ci tml bady

3mttp;//www.jldc`cil.ucawf.ldu/uphafdldCjfols/Rlslfr`m/MujfiQOliltc`s/Ilws/DIFQPlquli`l.kpo1i:0663

mttps;//www.jy45.aro/sctls/www.jy45.aro/echls/pc`turls/>0Jy45QOli6>6QpratlcisQecifh.pio

mttp;//www.i`bc.ihj.icm.oav/iu`àrl/I@Q>>>>66.31rlpart:efstf&eraj:<245535&ta:<24=0>6&strfid:trul

Dlecictcai

: slquli`l ae DIF iu`hlatcdls tmft àitfci ciearjftcai ear àdcio f pratlci

Mcit; F@FTTTO@TT@TOF@F@FF@TOTOTT@F@TFO@FF@@T@FFF@FOF@F@@FTOOTO@FT@TOF@T@@TOFOO

FOFFOT@TO@@OTTF@TO@@@TOTOOOO@FFOOTOFF@OTOOFTOFFOTTOOTOOTOFOO@@@TOOO@FO

OTTOOTFT@FFOOTTF@FFOF@FOOTTTFFOOFOF@@FFTFOFFF@TOOO@FTOTOOFOF@FOFOFFOF@T

@TTOOOTTT@TOFTFOO@F@TOF@T@T@T@TO@@TFTTOOT@TFTTTT@@@F@@@TTFOO@TO@TOOTOOT@

TF@@@TTOOF@@@FOFOOTT@TTTOFOT@@TTTOOOOFT@TOT@@F@T@@TOFTO@TOTTFTOOO@FF@@@T

FFOOTOFFOO@T@FTOO@FFOFFFOTO@T@OOTO@@TTTFOTOFTOO@@TOO@T@F@@TOOF@FF@@T@FF

OOO@F@@TTTO@@F@F@TOFOTOFO@TO@F@TOTOF@FFO@TO@F@OTOOFT@@TOFOFF@TT@FOOOTO

FOT@TFTOOOF@O@TTOFTOTTTT@TTT@@@@TT@TTTT@TFTOOTTFFOTT@FTOT@FTFOOFFOOOOFTFF

OTFF@FOOOTF@FOTTTFOFFTOOOFFF@FOF@OFFTOFTTO@FT@FOTOTOOFFOT@T@FOOFT@OTTTTFOTTT@TTTTFTTTO@TOTT@FTFF@FFTTOTTTT@TTTTOTTTFFTT@TTO@TTT@TTTTTTTTT@TT@T@@O@FF

TTTTTF@TFTTFTF@TTFFTO@@TTFF@FTTOTOTFTFF@FFFFOOFFFTFT@T@TOFOFTF@FTTFFOTFF@TT

FFFFFFFFF@TTTF@F@FOT@TO@@TFOTF@FTTF@TFTTTOOFFTFTFTOTOTO@TTFTTTO@FTFTT@FTFF

T@T@@@TF@TTTFTTTT@TTTTFTTTTTFFTTOFTF@FTFFT@FTTFTF@FTFTTTFTOOOTTFFFOTOTFFTOTT

TTFFTFTOTOTF@F@FTFTTOF@@FFFT@FOOOTFFTTTTO@FTTTOTFFTTTTFFFFFFTO@TTT@TT@TTTTF

FTFTF@TTTTTTOTTTFT@TTFTTT@TFFTF@TTT@@@TFFT@T@TTT@TTT@FOOO@FFTFFTOFTF@FFTOTF

T@FTO@@T@TTTO@F@@FTT@TFFFOFFTFF@FOTOFTFFTTT@TOOOTTFFOO@FFTFO@FFTFT@T@TO@F

TFTFFFTFTTT@TO@FTFTFFFTTOTFF@TOFTOTFFOFOOTTT@FTFTTO@TFFTFO@FO@TF@FFT@@FO@T

F@@FTT@TO@TTTTFTTTTFTOOTTOOOFTFFOO@TOOFTTFTT@TOFOT@@FFO@TFOO@@@TTTTO@TFFT

@FTOTT@FTF@@T@TTFT@TT@@T@@@F@FO@T@@TOOO@FF@OTO@TOOT@TOTOTO@TOO@@@FT@F@TT

TOO@FFFOFFTT@F@@@@F@@FOTO@FOO@TO@@TFT@FOFFFOTOOTOO@TOOTOTOO@TFFTO@@@TO

O@@@F@FFOTFT@F@TFFO@T@O@TTT@TTO@TOT@@FFTTT@TFTTFFFOOTT@@TTTOTT@@@TFFOT@@F

F@TF@TFFF@TOOOOOFTFTTFTOFFOOO@@TTOFO@FT@TOOFTT@TO@@TFFTFFFFFF@FTTTFTTTT@F

TTO@

V. Ifjl tml crai-àitfcicio pratlci

tmft `frrcls axyoli ci maja sfpclis.



OLIL F eui t̀caifh uict ae DIF ‐ ̀ adls lvlry pratlci ci tml bady

6>mttp;//www.jldc`cil.ucawf.ldu/uphafdldCjfols/Rlslfr`m/MujfiQOliltc`s/Ilws/DIFQPlquli`l.kpo1i:0663

mttps;//www.jy45.aro/sctls/www.jy45.aro/echls/pc`turls/>0Jy45QOli6>6QpratlcisQecifh.pio

Dlecictcai

: slquli`l ae DIF iu`hlatcdls tmft àitfci ciearjftcai ear àdcio f pratlci

Tml cistru`tcai ear buchdcio pratlcis;• Ptru`turfh pratlcis

• Lizyjls

• Pcoifhhcio pratlcis (marjails)

• Rlouhftary pratlcis



Mujfi Oliajl

• ~ 0,>>>,>>>,>>> bfsl pfcrs ae DIF

• DIF frrfiold cita `mrajasajls

• 2> ‐ 2<,>>> olils frrfyld fhaio

`mrajasajls

• Twa àpcls ae jast ae tmlsl olils

OLIAJL Fhh ae tml DIF tmft cs ̀ ajjai ta f sciohl spl c̀ls

66mttp;//www.ifturl.àj/ifturl/kaurifh/v4>3/i5=22/cjfols/4>3=5>bw.2.kpo



Pujjfry;

• @mrajasajl : f stru`turl ci

tml iu`hlus ae f `lhh tmft `frry

tml oliltc` ciearjftcai (DIF)

• DIF : tml prcjfry `frrclr ae

oliltc` ciearjftcai eauid ci tml

`mrajasajls ae fhjast fhh

aroficsjs

• Olil : f eui`tcaifh uict ae

DIF (ar tml bcahaoc` uict aemlrldcty)

DIF, OLIL & @MRAJAPAJLCitradu c̀io ̀ mrajasajl stru t̀urls

62mttps;//www.jy45.aro/sctls/www.jy45.aro/echls/pc`turls/>2Jy45QOli6>[email protected]



@MRAJAPAJL F smart, bfr-hcgl badcls ae ̀ achld & ̀ aidlisld ̀ mrajftci tmrlfds

60mttps;//www.jy45.aro/sctls/www.jy45.aro/echls/pc`turls/>2Jy45QOli6>[email protected]

• Aihy vcscbhl durcio `lhh dcvcscai

• Olils frl pf`gfold cita

`mrajasajls

• Fhhaws àjprlsscai cita vlry

sjfhh iu`hlus

• Lf`m `mrajasajl; àitfcis

ail DIF jahlùhl



@MRAJAPAJL F smart, bfr-hcgl badcls ae ̀ achld & ̀ aidlisld ̀ mrajftci tmrlfds

64

@aeely, Oltzliblro & Dl_llsl 2>>5, p. 44?



_mc`m ae tml eahhawcio cs iat trul ae oliltc`s1

F. olil cs f slojlit ae f DIF jahlùhl

B. lf`m `mrajasajl àitfcis ail ar jarl jahlùhls ae DIF

@. DIF cs tcomthy pf`gfold cita iu`hlasajls wmc`m frl

wrfppld frauid mcstail

D. trfis`rcptcai cs cjpartfit bl`fusl DIF cs taa hfrol ta hlfvl

tml iu`hlus

V\C[ #6WHlfricio Abkl t̀cvl 6Z ‐ Dlecil f olil & lxphfci pf`gfocio cita ̀ mrajasajls

6<



@MRAJAPAJLMujfi; 20 pfcrs ae majahaoaus ̀ mrajasajls (tml dcphacd iujblr cs 45)

65

(Fttcf lt fh. 2>>3, p. ?=)

Lf`m pfcr ae `mrajasajls

Ci lf`m pfcr,

• mfs `mfrf`tlrcstc` fpplfrfi`l

• Iujblrld 6-22 (”futasajls–)

• olils frrfiold hcilfrhy

f) ^ftlrifh ̀ mrajasajl

b) Jftlrifh ̀ mrajasajl

^mysc`fh trfcts

: dltlrjcild by citlrf`tcai bltwlli

olils ft tml sfjl ha`ftcai



PL] @MRAJAPAJLMujfi; ail ae 20 pfcrs

6?

(Fttcf lt fh. 2>>3, p. ?=)

Plx @mrajasajls

: àitfci olils ear olidlr & slx-

hcigld `mfrf`tlrcstc`s

• Jfhl; ]S

• Eljfhl; ]]



Maw jfiy pfcrs ae `mrajasajls da mujfis mfvl1

F. 22

B. 45

@. 20

D. 4?


6=



F gfryatypl cs f àjphltl1

F. dcphacd àjphljlit dcsphfy ae majahaoaus `mrajasajl

pfcrs

B. dcsphfy ae slx marjails

@. dcsphfy ae futasajls

D. mfphacd àjphljlit dcsphfy ae `mrajasajls


63



^RATLCI PSITMLPCPDIF ta pratlci ‐ civahvls twa pra`lssls

2>(Fttcf lt fh. 2>>3, p. ?3)

^ratlci syitmlscs

: àjphltlhy dcrl`tld by àjphljlitfry bfsl pfcrcio

• F olil àdl ear f pahyplptcdl • olil mfs ia eui`tcai ar rahl

^ra`lssls ae pratlci syitmlscs

6) Trfis`rcptcai

2) Trfishftcai



^RATLCI PSITMLPCPTrfis r̀cptcai ‐ tml cictcfh pra`lss7 a`ùrs wctmci tml iu h̀lus

26

Trfis`rcptcai

: f pra`lss wmc`m DIF àpcld/liàdld cita jlssliolr RIF

• DIF ilvlr hlfvls tml iu`hlus (sczl)

• jRIF `frrcls ciearjftcai ta `ytaphfsj, vcf iu`hlfr parls

(Fttcf lt fh. 2>>3, p. ?37 Gciostai 2>>2, p. ?3)



^RATLCI PSITMLPCPTrfishftcai ‐ tml slàid pra`lss7 a`ùrs wctmci tml ̀ ytaphfsj

22(Fttcf lt fh. 2>>3, p. ?37 Gciostai 2>>2, p. =>)

Trfishftcai

: jRIF trfishftld cita pratlci

• Trfishftld by rcbasajls

• civahvls jRIF, tRIF, rRIF

• rlqucrl lilroy (FT^)

• Trcphlt ae DIF bfsls : ail fjcia f`cd



Trfis`rcptcai cs;

F. tml àpycio ae DIF durcio tml P pmfsl ae `lhh dcvcscai

B. tml àivlrscai ae jRIF ta pratlci

@. tml àivlrscai ae DIF ta jRIF

D. tml àivlrscai ae DIF ta pratlci

V\C[ #4WHlfricio Abkl t̀cvl 2Z ‐ Lxphfci pra`lssls civahvld ci pratlci syitmlscs

20



OLIL L]^RLPPCAILvlry ̀ lhh ci aur badcls ̀ aitfcis tml sfjl DIF

24(Dr Pfrfm Hcst, rltrclvld eraj Dr @mrcs 2>62)

Eui`tcai ae f `lhh;

: rlehl`tld by pratlci àjpailits

Rlouhftcai ae Olil Lxprlsscai;

• Jahlùhfr `ha`g

• Marjails

• Livcraijlit

Maw àjl wl mfvl sa jfiy dceelrlit typls ae `lhhs1

: `lhh dceelrlitcftcai by turicio ai & aee spl`cec` olils



OLIL, ̂ RATLCIP & TRFCTPLf`m pratlci ̀ aitrcbutls ta ail ae jarl trfcts

2<

F) Jaiaolic` trfcts;

: àitrahhld by f sciohl olil (rfrl ci mujfis)

B) âhyolic` trfcts;

: àitrahhld by juhtcphls olils (jast mujfi trfcts)

_my wl haag sa dceelrlit 1

: dceelrlit trfcts dltlrjcild by slquli`l vfrcftcai ci olils

Trfcts

: jficelstftcai ae tml lxprlsscai ae ail ar jarl olils



DIF PLV\LI@L F`ùrftl DIF rlphc̀ ftcai ar trfis r̀cptcai ‐ cjpartfit!

25

âsscbhl àislquli`ls ae jutftcai;: Ciàrrl`t ar Ia pratlci syitmlscs

Jutftcai

: fs f rlsuht ae cif`ùrftl DIF rlphc`ftcai ar trfis`rcptcai

• Dyseui`tcai ci tml aroficsj

• Eftfh ta aroficsj

• Rfrlhy fdvfitfolaus

” @fi`lr gcds frl lsslitcfhhy scdl leel`ts ae tml rlhlithlss jutftcai tmft jfdl tml

dcvlrscty ae hcel ai lfrtm passcbhl– ‐ Tml Efuht ci Aur Ptfrs, Kami Orlli

(Gciostai 2>>2, p. =4)



DIF PLV\LI@L F`ùrftl DIF rlphc̀ ftcai ar trfis r̀cptcai ‐ cjpartfit!

2?

âsscbhl àislquli`ls ae jutftcai;: Ciàrrl`t ar Ia pratlci syitmlscs

Jutftcai

: fs f rlsuht ae cif`ùrftl DIF rlphc`ftcai ar trfis`rcptcai

• Dyseui`tcai ci tml aroficsj

• Eftfh ta aroficsj

• Rfrlhy fdvfitfolaus

” @fi`lr gcds frl lsslitcfhhy scdl leel`ts ae tml rlhlithlss jutftcai tmft jfdl tml

dcvlrscty ae hcel ai lfrtm passcbhl– ‐ Tml Efuht ci Aur Ptfrs, Kami Orlli

Ecourl 05-5. @rfet lt fh. ‘\idlrstfidcio ^ftmapmyscahaoy‚ 2>66



F ̀ mfiol ci tml oliltc` stru`turl ae f olil cs `fhhld;

F. Dlhltcai

B. Trfisha`ftcai

@. Civlrscai

D. Jutftcai

V\C[ #<WHlfricio Abkl t̀cvlZ ‐ \idlrstfidcio cjpartfi`l ae f`ùrftl DIF slquli`l

2=



Jast mujfi trfcts frl dltlrjcild by;

F. iutrctcai durcio ciefi`y

B. f sciohl pfcr ae olils

@. f sciohl fhhlhl

D. Juhtcphl fhhlhls

V\C[ #5WHlfricio Abkl t̀cvlZ ‐ \idlrstfidcio olil, pratlcis & trfcts

23





AULRUCL_ AE CIMLRCTFI@LCimlrctfi`l ‐ Tfbhl ae @aitlits

06

Jfci tapc` @aitlits

Olil & Fhhlhl • Majazyoaus vs. Mltlrazyoaus

• Dajcifit vs. Rl`lsscvl

Oliatypl vs. ^mliatypl • Dlecictcai• ûiiltt's squfrl

Jadls ae cimlrctfi`l • Avlrvclw & ^ldcorll

• Futasajfh dajcifit & rl`lsscvl

• ]-hcigld

• @a-dajcifi`l

Oliltc` dcslfsls • Avlrvclw

• @mrajasajfh dcsardlrs

• Pciohl-olil dcsardlrs

• Juhtcef`tarcfh dcsardlrs

@ajphlx dcslfsls • \idlrstfidcio tml àjphlxcty ae dcslfsls



OLILP & FHHLHLP Fhhlhl ‐ ail ae slvlrfh vfrcfits ae f olil

02

Fhhlhl

: f vfrcfit ae f olil, usufhhy rlelr ta f spl`cec` sctl (haùs) wctmci tml olil

mttp;//hlof`y.mapgcisvchhl.g`t`s.ldu/cistru t̀ars/Kfsai-Friahd/UHC/UHC=6=/Jaduhl0Oliltc`s/e6>-><fQmajahaoausQ`mraQ`.kpo

• Ucrtufhhy lvlry `lhh ci tml bady: mfs f pfcr ae lf`m olil (lx`lpt ofjltls)

• Fhhlhls jfy àdl ear fhtlriftcvl earjs ae trfct

• Twa olils/fhhlhls (lf`m eraj lf`m pfrlit)

: citlrf`t ta dc`tftl lf`m trfct



OLILP & FHHLHLPMajazyoaus vs. Mltlrazyoaus

00

Majazyoaus & Mltlrazyoaus

: frl rlelrrcio ta fi cidcvcdufh (mujfi blcio)


F) Majazyoaus;: fi cidcvcdufh wctm twa cdlitc`fh/sfjl fhhlhls

ft f olil ha`ftcai

B) Mltlrazyoaus;: fi cidcvcdufh wctm twa dceelrlit fhhlhls ft f

olil ha`ftcai



OLILP & FHHLHLP Fhhlhl ‐ Dajcifit vs. Rl`lsscvl

04

Dajcifit & Rl`lsscvl

: tml tlrjs usld ta dls`rcbl tml cimlrctfi`l pfttlris ae `lrtfci trfcts


F) Dajcifit;: fi fhhlhl tmft jfsg tml lxprlsscai ae f

rl`lsscvl fhhlhl

(lxprlssld ci lctmlr majazyoaus/mltlrazyoaus)

B) Rl`lsscvl;

: twa àpcls ae rl`lsscvl fhhlhls frl

il`lssfry ta jficelst cts leel`t

(aihy lxprlssld ci majazyoaus)



OLIATS^L UP. ^MLIATS^LDcstcioucsm bltwlli f oliatypl & f pmliatypl

0<

F) Oliatypl;

: oliltc` àistctutcai ae fi cidcvcdufh

B) ^mliatypl;

: abslrvfbhl `mfrf`tlrcstc`s ae

cidcvcdufh7 usufhhy lxprlsscai ae oliatypl

Jatmlr

E

f r t m l r

t

t

TT

Tt

Tt

tt

Oliatypl vs. ^mliatypl

: tml dceelrli`l bltwlli olils & tml trfcts tmly ciehuli`l

• Oliatypc` rftca : TT ; Tt ; tt : 6;2;6

• ^mliatypc` rftca : Tfhh ; Pmart : 0;6



^\IILTT–P PV\FRL F scjphl wfy ta rlprlslit fhh passcbhl oliatypls ae aeesprcio ear f sciohl trfct

05

• @fhùhftl eraj giawi oliatypls aetwa pfrlits

• ^rabfbchcty ilvlr `mfiol

Jltmads6) Dltlrjcil pfrlitfh ofjltls

2) Dltlrjcil prabfbchcty ae oliatypl

ci aeesprcio

\sl ae ûiiltt–s squfrl

: ta prldc`t oliatypl ae aeesprcio & lxpl`tld prabfbchcty

Jatmlr

E

f r t m l r

t

t

TT

Tt

Tt

tt



F plrsai's oliltc` jfglup ear cidcvcdufh trfcts cs `fhhld

mcs/mlr 1

F. ^mliatypl

B. Oliajl

@. Oliatypl

D. DIF

V\C[ #?WHlfricio Abkl t̀cvlZ ‐ Dcstcioucsm olils fid trfcts

0?



Ce batm pfrlits frl mltlrazyoaus ear f rl`lsscvl trfct, wmft

cs tml `mfi`l tmft aeesprcio wchh lxprlss tml rl`lsscvl trfct1

F. 2<%

B. <>%

@. >%

D. 6>>%

V\C[ #=WHlfricio Abkl t̀cvlZ ‐ \scio ̂ uiiltt–s squfrl ta ̀ fh̀ uhftl prabfbchcty ae trfct

0=



^LDCORLLusld ta trf`l f oliltc̀ trfct avlr slvlrfh olilrftcais (ci f efjchy)

03

^ldcorll mlhps prldc`t tml euturl

: \sld ci Dx– oliltc` dcsardlrs, oliltc` P`– & àuislhhcio

@frrclr

(\igiawi saur`l)



F\TAPAJFH DAJCIFIT-RL@LPPCULCivahvls tml olil ̀ frrcld ai ail ae tml futasajls (iai-slx ̀ mrajasajls)

4>

F) Futasajfh Dajcifit

: mfs vlrtc`fh pldcorll pfttlri7 eauid ci juhtcphl olilrftcais

• Jfhls & eljfhls lqufhhy feel`tld

• Dcsardlr trfisjcttld by batm slxls

• f <>% `mfi`l ae trfisjcttcio olil

Ear lxfjphl,• Muitciotai–s dcslfsl

• Efjchcfh brlfst `fi`lr (BR@F 6,2)

• Efjchcfh fdliajftaus pahypascs



F\TAPAJFH DAJCIFIT-RL@LPPCULCivahvls tml olil ̀ frrcld ai ail ae tml futasajls (iai-slx ̀ mrajasajls)

46

B) Futasajfh Rl`lsscvl

: mfs marczaitfh pldcorll pfttlri7 eauid ci tml sfjl olilrftcai

• Jfhls & eljfhls lqufhhy feel`tld

• @aisfioucilaus jftcio sajltcjls civahvld

• ^frlits & `mchdrli ae feel`tld aetli uifeel`tld

• Pubslqulit scbhcios mfvl f 2<%

Ear lxfjphl,

• @ystc` ecbrascs

• Pc`g `lhh dcslfsl

• Tfy-Pf`ms dcslfsl

• Fhbcicsj



]-HCIGLD CIMLRCTFI@LOlils rlspaiscbhl ear tml trfct ae citlrlst cs ̀ frrcld ai ]-`mrajasajl

42Jadcecld eraj mttp;//oliajl.`smhp.aro/àitlit/?/4/0>?/E6.hfrol.kpo

] & S `mrajasajls

: IAT majahaoaus ci tml trul slisl

]-`mrajasajl;

• `frrcls 2,<>> olils

• Jfiy olils àdl ear pratlcis ear brfci eui`tcais

S-`mrajasajl;• `frrcls 6< olils

• Jast rlhftl ta jfhlilss ef`tars

• aihy <% àdl ear iai-slxufh trfcts

]

S



]-HCIGLD CIMLRCTFI@LOlils rlspaiscbhl ear tml trfct ae citlrlst cs ̀ frrcld ai ]-`mrajasajl

40Jadcecld eraj mttp;//oliajl.`smhp.aro/àitlit/?/4/0>?/E6.hfrol.kpo

] & S `mrajasajls

: IAT majahaoaus ci tml trul slisl

Eljfhl (]]);

• Ail ]-`mrajasajl eraj jatmlr

• Fiatmlr ]-`mrajasajl eraj efrtmlr

Jfhl (]S);• Ail ]-`mrajasajl eraj jatmlr (fhwfys)

• S `mrajasajl eraj efrtmlr (fhwfys)

]

S



]-HCIGLD RL@LPPCUL CIMLRCTFI@L\sufhhy ]-hcigld dcsardlrs frl rl`lsscvl ‐ feel t̀ jfhls fhjast lx h̀uscvlhy

44

_my ]-hcigld rl`lsscvl dcsardlrs feel`t jfhls lx`huscvlhy1

: bl`fusl jfhls mfvl ia àrrlspaidcio fhhlhl ai S-`mrajasajl

@ahaur bhcidilss (@B);

• ]@B ‐ iarjfh (dajcifit)

• ]`b ‐ àhaur bhcidilss (rl`lsscvl)

Vulstcais;• % `frrclr1

• % feel`tld jfhl1

• % iarjfh cidcvcdufhs1

S

]@B/ ]@B ]

@B/ ]`b

]@B/ S ]

`b/ S



]-HCIGLD RL@LPPCUL CIMLRCTFI@L^ldcorll lxfjphl ‐ @ahaur bhcidilss

4<

_my ]-hcigld rl`lsscvl dcsardlrs feel`t jfhls lx`huscvlhy1

: bl`fusl jfhls mfvl ia àrrlspaidcio fhhlhl ai S-`mrajasajl

@ahaur bhcidilss (@B);

• ]@B ‐ iarjfh (dajcifit)

• ]`b ‐ àhaur bhcidilss (rl`lsscvl)

Vulstcais;• % `frrclr1

• % feel`tld jfhl1

• % iarjfh cidcvcdufhs1



]-HCIGLD RL@LPPCUL CIMLRCTFI@L^ldcorll lxfjphl ‐ @ahaur bhcidilss

45

• Jfhls feel`tld fhjast lx`huscvlhy

• Trfisjcsscai tmrauom `frrclr eljfhls

• Ilvlr jfhl-ta-jfhl trfisjcsscai

Feel`tld bay–s…;

• Bratmlrs ‐ <>% `mfi`l ae blcio feel`tld

• Pcstlrs ‐ <>% ae blcio `frrclrs

]-hcigld rl`lsscvl cimlrctfi`l

: mfs ”Gicomt–s javl– pldcorll pfttlri



@A-DAJCIFI@Lfgf Juhtcphl-fhhlhl cimlrctfi`l ‐ ̀ ajjai

4?mttp;//bca66>>.ic`lrwlb.àj/Ha`gld/jldcf/`m6>/6>Q63.kpo

Jarl tmfi twa fhhlhls civahvld;

• CF ‐ fitcoli F (dajcifit)

• CB ‐ fitcoli B (dajcifit)

• c ‐ Ia fitcoli (rl`lsscvl)

@a-dajcifi`l;

: a`ùrs wmli twa fhhlhls fpplfr

taoltmlr ci mltlrazyoatls (c.l., CFCB).

@a-dajcifi`l

: Iat dajcifit/rl`lsscvl ta lf`m atmlr7 twa fhhlhls– pmliatypls lvlihy a`ùr



Kami cs f `hclit wma mfs Erfochl ] syidrajl, tml jast àjjai

earj ae cimlrctld jlitfh rltfrdftcai.

@fhùhftl tml prabfbchcty tmft Kami–s sai wchh mfvl Erfochl ]

syidrajl (f ]-hcigld rl`lsscvl dcsardlr).

@FPL PT\DS #3WHlfricio Abkl t̀cvlZ ‐ \scio pldcorll ci lxphfcicio jadls ae cimlrctfi`l

4=mttp;//www.erfochl-x.`f/wp-àitlit/uphafds/2>60/66/erfochl-x-syidrajl.pio

Kami



Kami fhsa warrcls fbaut mcs dfuomtlr (cdlitc`fh twci).

@fhùhftl tml `mfi`l tmft mcs dfuomtlr wchh bl feel`tld by (f)

Erfochl ] syidrajl fid (b) ae blcio `frrclrs.

43mttp;//www.erfochl-x.`f/wp-àitlit/uphafds/2>60/66/erfochl-x-syidrajl.pio

Kami

@FPL PT\DS #3WHlfricio Abkl t̀cvlZ ‐ \scio pldcorll ci lxphfcicio jadls ae cimlrctfi`l



Bhaad typl FB mfs fhhlhls tmft frl;

F. Dajcifit-rl`lsscvl

B. Rl`lsscvl

@. âhyolic`

D. @a-dajcifit

V\C[ #6>WHlfricio Abkl t̀cvlZ ‐ \idlrstfidcio jadls ae cimlrctfi`l

<>



Mltlrazyoaus pfrlits wma mfvl mfd ail `mchd wctm f

rl`lsscvl dcslfsl wchh mfvl f QQQ `mfi`l ae mfvcio tmlcr

slàid `mchd blcio bari wctm tml sfjl rl`lsscvl dcslfsl;

F. 62.<%

B. ?<%

@. 2<%

D. <>%

<6

V\C[ #66WHlfricio Abkl t̀cvlZ ‐ \idlrstfidcio jadls ae cimlrctfi`l



OLILTC@ DCPLFPLPf ̀ aitciuuj ae oliltc̀ dcslfsls

<2(Dr @mrcs 2>64)

Oliltc`Livcraijlitfh

• Ciehulizf

• Jlfshls

• Ciel`tcaus dcslfsl

• @ystc` ecbrascs

• Mfljapmchcf F

• Dawi–s syidrajl

• Dcfbltls

• Mlfrt Dcslfsl

• Fhàmahcsj

• @fi`lr

Vulstcai;

: rahls ae livcraijlitfh ef`tars ci oliltc` dcslfsls1



OLILTC@ DCPLFPLPMujfis mfvl 2>,>>> ~ 2<,>>> olils

<0

Fhtlriftcais ci olils ar ci àjbciftcai ae tmlj

: `fi pradu`l fhtlrld eui`tcai & f oliltc` dcsardlr

Oliltc` dcsardlrs;

f) @mrajasajfh dcsardlr

b) Pciohl-olil dcsardlrs

`) Juhtcef`tarcfh dcsardlrs



@MRAJAPAJFH FBIARJFHCTCLPLitcrl ̀ mrajasajls ar hfrol slojlits frl jcsscio , duphc̀ ftld ar fhtlrld

<4

(Gciostai 2>>2, p. 6=)

Ptru`turfh fbiarjfhctcls

: usufhhy dul ta brlfgfol, rlsuhtcio ci juhtcphl àiolictfh fbiarjf– ft bcrtm

F) Futasajfh trcsajy

: tmrll ae ail pfrtcùhfr futasajl (iai-slx `mrajasajl)

Ear lxfjphl,

Dawi Pyidrajl;

• Trcsajy-26

• Mcom ci`cdli`l ci `mchdrli ae ahdlr juj




<<



B) Plx `mrajasajl trcsajcls

: usufhhy iat slvlrl7 `fi bl tahlrftld

Turilr syidrajl (4<, ]);

• Feel`t eljfhls• ûblrtfh efchurl, cielrtchl

• Aetli smart stfturl

• Iarjfh citlhhcoli`l

mttp;//www.hfrfsco.àj/sctls/hfrfsco.àj/echls/cjfols/turilrsyidrajlxiay.kpo

Aihy ail ]-`mrajasajl




<5



B) Plx `mrajasajl trcsajcls

: usufhhy iat slvlrl7 `fi bl tahlrftld

Ghcilelhtlr Pyidrajl (4?, ]]S);

• Feel`t jfhls• ûblrtfh efchurl, cielrtchl

• Aetli tfhh, wctm eljfhl eft dcstrcbutcai

• Hawlr CV tmfi scbhcios

mttp;//www.oliltc`saeprloifi`y.àj/cjfols/GhcilelhtlrQPyidrajl.kpo

Tmrll slx `mrajasajls



PCIOHL-OLIL DCPARDLRPAil olil cs fhtlrld, fgf Jlidlhcfi ̀ aidctcais (dul ta ct–s jadls ae cimlrctfi`l)

<?

^ftmapmyscahaoy;

: fi lxpfiscai ae f rlplftld

DIF slquli`l ci tml MD olil

• hlfds ta pradu`tcai ae f taxci

pratlci ci tml bfsfh iu`hlc

• `mfrf`tlrcsld by erlqulit

javljlits & slvlrl dljlitcf

mttp;//pftfpsà.icst.oav/cjfolofhhlry/rltrclvl.èj1cjfolcd:326&dpc:6<>&echlearjft:kpo

Muitciotai–s Dcslfsl (MD)

: f praorlsscvl iluradlolilrftcvl dcslfsl7 hftl aislt (jlfi fol 0<-44)




<=

^ftmapmyscahaoy;




pratlci ci tml bfsfh iu`hlc



mttp;//pftfpsà.icst.oav/cjfolofhhlry/rltrclvl.èj1cjfolcd:326&dpc:6<>&echlearjft:kpo






<3

^ftmapmyscahaoy;




pratlci ci tml bfsfh iu`lhc



• Cimlrctfi`l; futasajfh dajcifit



Mm mm Mmmm mm



J\HTCEF@TARCFH & ÂHSOLIC@Juhtcef t̀arcfh (oliltc̀ -livcraijlit) & ̂ ahyolic̀ (juhtcphl-olils) dcsardlrs

5>

Dcslfsl Jadl ae cimlrctfi`l

Fhzmlcjlr dcslfsl Oliltc`/livcraijlitfh

@fi`lr Oliltc`/livcraijlitfh

Fhàmahcsj Oliltc`/livcraijlitfh

P`mczapmrlicf Oliltc`/livcraijlitfh

Mlfrt dcslfsl/stragl Oliltc`/livcraijlitfh

Ilurfh tubl dlel`ts âhyolic`

@aiolictfh mlfrt âhyolic`

@hub eaat âhyolic`

(Dr @mrcs DU 2>64)



Ce ail pfrlit cs mltlrazyoaus ear Muitciotai's dcslfsl,

wmft cs tml `mchd's `mfi`l ear mfvcio tml dcslfsl1

F. >%

B. 2<%

@. <>%

D. 6>>%


56



_mc`m ae tml eahhawcio lxmcbcts vlrtc`fh pldcorll pfttlri1

F. rld-orlli àhar bhcidilss

B. Fhbcicsj

@. Tfy-sf`ms dcslfsl

D. Muitciotai–s dcslfsl


52



@AJ^HL] DCPLFPLPJfiy ̀ ajjai dcslfsl frl cimlrctld fs àjphlx trfcts

50(Hudwco & Ercldjfi 2>64, p. 265=7 Tfbhl ?4-6. Efu`c lt fh. ‘Mfrrcsai–s ̂ rci`cphls ae Citlrifh Jldc`cil‚ 2>>=)

• Oliltc` ef`tars feel`t sus`lptcbchcty

• Citlrf`t wctm livcraijlitfh ef`tars



Gulmi, BJ 2>62, ”Jfsscvl Ptudy @ajphc`ftcai Chhustrftls Rlouhftary Rahl ae Iai-Olil-Liàdcio DIF–, KFJF, vah. 0>=, ia. 64, pp. 6463-2>.

Fttcf, K, Cafiicdcs, K^F, Tmfggcistcfi, F, J`Lvay, J, Pàtt, RK, Jcilhhc, @, Tmajpsai, K,

Ciefitl-Rcvfrd, @ & Ouyftt, O 2>>3, ”Maw ta \sl fi Frtc`hl Fbaut Oliltc` Fssa`cftcai–,

KFJF, vah. 0>6, ia. 6, pp. ?4-=6.

@aeely, DP, Oltzliblro, RM & Dl_llsl, TH 2>>5, ”Myplrtmlrjc` Bcahaoy fid @fi`lr

Tmlrfpcls–, KFJF, vah. 235, ia. 4, pp. 44<-=.

Gciostai, MJ 2>>2, FB@ ae @hcic`fh Oliltc`s, 0rd ldi, BJK Baags, Jfi`mlstlr.

Hudwco, DP & Ercldjfi, JC 2>64, Ci`rlfscio Fdcpascty; @aislquli`l ar @fusl ae

Avlrlftcio1, KFJF, vah. 066, ia. 26, pp. 265?-=.

RLELRLI@L HCPT Fhh ̀ apyrcomts frl rlslrvld. Ia ̀ apyrcomt ciercioljlit citlidld

54



Mussfci, T, Hhæ`lr, Kasl H, Elriæidlz, Csrflh P, Juiaz, F, Jfrtci-Jfràs, ^, Pfvvf,@mrcstas O, Hars`m, Kai R, Mciilbus`m, Fhfi O & Rfjfgrcsmifi, U 'Ptru`turfh @mfiols

Lifbhl Ptfrt @adai Rlàoictcai by tml Lugfryatc` Trfishftcai Cictcftcai @ajphlx', @lhh,

vah. 6<3, ia. 0, pp. <3?-5>?.

RLELRLI@L HCPT Fhh ̀ apyrcomts frl rlslrvld. Ia ̀ apyrcomt ciercioljlit citlidld

Documents

1.1 Genes to Protein, Genetics & Inheritance_PRINT_session_note