1.0 Genetics and Inheritance

7/21/2019 1.0 Genetics and Inheritance

1/13

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@klktnjs & Nlbkrntoljk


O`klk ns o strktjb eg HLO tbot jehks ger o portnjucor pretknl. Nl etbkr werhs, nt ns o guljtneloc ulnt eg HLO tbot

jehks kvkry pretknl nl tbk dehy. Nt ns ocse hkgnlkh os o skqukljk eg HLO lujcketnhks tbot jeltonl nlgeriotnel

ger jehnl` o pretknl.

Ger nlstoljk, HLO skqukljk (n.k., o `klk) eg bokie`cednl (tbk nrel-jeltonlnl` pretknl tbot jorrnks exy`kl nl

tbk dehy) jelsnsts eg ?,767 HLO lujcketnhks (skk Gnùrk ? dkcew).

Gnùrk ?=HLO lujcketnhks eg bokie`cednl nl Beie sopnkls?

Nl `klkroc, `klks ojt os tbk nlstrujtnel ger dunchnl` pretknls, sujb os strujturoc pretknls, klzyiks, sn`loccnl`

pretknls (k.`. berielks) olh rkùcotery pretknls, nl tbk dehy (skk Gnùrk 4 dkcew).

Gnùrk 4=@klks olh Vretknls ([lnvkrsnty eg Posbnl`tel 46?4)

Octkrlotnels nl seik eg tbksk `klks jol rksuct nl ol octkrkh guljtnel olh o `klktnj hnserhkr (k.`. nlbkrntkh

`klktnj hnserhkrs sujb os Bultnl`tels hnskosk olh jystnj gndresns). Zeik `klks nlgcukljk o skt eg

jborojtkrnstnjs nl o portnjucor woy, olh bkljk ork rkspelsndck ger tronts sujb os bonr olh kyk jeceur, dceeh `reup

olh gojnoc gkoturks. Xbkrkgerk, o `klk ns ocse jelsnhkrkh o pbysnjoc ulnt eg nlbkrntoljk.

?bttp=//www.ljdn.lci.lnb. ev/lujjerk/LJU6666??.>5rkpert9gosto&grei9;4877>7&te9;482:6?&strolh9truk
http://www.ncbi.nlm.nih.gov/nuccore/NC_000011.9?report=fasta&from=5246696&to=5248301&strand=truehttp://www.ncbi.nlm.nih.gov/nuccore/NC_000011.9?report=fasta&from=5246696&to=5248301&strand=truehttp://www.ncbi.nlm.nih.gov/nuccore/NC_000011.9?report=fasta&from=5246696&to=5248301&strand=truehttp://www.ncbi.nlm.nih.gov/nuccore/NC_000011.9?report=fasta&from=5246696&to=5248301&strand=truehttp://www.ncbi.nlm.nih.gov/nuccore/NC_000011.9?report=fasta&from=5246696&to=5248301&strand=true


2/13

4


Occkcks

Occkcksork octkrlotnvk geris eg o `klk, tbot ns jehk ger octkrlotnvk geris eg tront (k.`. Bonr jeceurDger drewl

bonr olh dger dcelhk bonr). Occkcks ork cejotkh ot o spkjngnj pesntnel (cejus, pcuroc= cejn) el tbk jbreieseik

(jbreieseik ns tbk strujturoc eròlnsotnel eg HLO). Dkjousk jkccs (kxjkptòiktks) jeltonl ponrkh

jbreieseiks, vnrtuoccy kvkry jkcc nl tbk dehy bos o ponr eg kojb `klk (olh tbkrkgerk, twe occkcks).

Ger kxoipck, ODE dceeh `reup eg ol nlhnvnhuoc ns hktkrinlkh dy occkcks eg tbk ODE `klk. Xbkrk ork tbrkk

ionl occkcks eg tbns `klkO, D olh Ewbnjb ork cejotkh ot o spkjngnj pesntnel el tbk jbreieseik >. Dkjousk

jbreieseiks (olh se `klks er occkcks) ork ponrkh, kojb nlhnvnhuoc bos twe ODE occkcks wbnjb nltkrojt te hnjtotk

bns/bkr dceeh typk. Ger nlstoljk, o pkrsel wntb tbk D occkck olh E occkck wncc bovk tbk D dceeh typk (dkjousk E

occkck ns rkjkssnvk olh D occkck ns heinlolt), wbkrkos o pkrsel wntb tbk O occkck olh D occkck wncc bovk tbk OD

dceeh typk (tbns nltkrojtnel, nl wbnjb detb heinlolt occkcks ork kxprksskh, ns alewl os je-heinlolt ).

Nt ns nipertolt te letk tbotòiktks(spkri olh k``s) jeltonl snl`ck jepnks eg kvkry occkck nl tbk buiol `kleik.

Xbot ns, jbreieseiks nl òiktks ork let ponrkh, se òiktks jeltonl 4: hnggkrklt jbreieseiks (44 outeseiks

olh elk skx jbreieseik). Ot gkrtncnsotnel, tbk spkri olh evui gusk te geri ol kidrye wbnjb jeltonls twe

jepnks eg kojb outeseiks olh twe skx jbreieseiks, tbot ns 87 jbreieseiks nl tetoc). Xbkrkgerk, elk occkck nsrkjknvkh grei kojb porklt wbkl òiktks gusk.

(o)@kletypk vs. Vbkletypk

@kletypk

Xbk kletypk ns tbk `klktnj jelstntutnel eg ol nlhnvnhuoc, rkprkskltkh dy tbk occkcks tbot tbk nlhnvnhuoc bos (k.`.

G/G er G/g). Znipcy, nt ns o pkrsels `klktnj ioakup.

Vbkletypk

Xbkpbkletypkns tbk edskrvodck jborojtkrnstnjs eg o jkcc er pbysnjoc gkoturks eg ol nlhnvnhuoc, usuoccy dknl` tbk

rksuct eg tbk prehujt jehkh dy o `klk (n.k., `kletypk). Znipcy, nt ns tbk kxprkssnel eg ol nlhnvnhuocs `kletypk.

Ger kxoipck, o pkrsel wntb `kletypk G/G (twe heinlolt grkjack occkcks) wncc hnspcoy grkjackh pbkletypk. Nt ns

nipertolt te letk tbot tbk pbkletypk ioy, nl seik nlstoljks, dk octkrkh dy klvnrelikltoc gojters olh cngkstyck

nlgcukljks.

(d)Beiezyèus vs. Bktkrezyèus

Beiezyèus

Ng ol nlhnvnhuoc rkjknvks twe nhkltnjoc jepnks eg ol occkck, tbky ork hksjrndkh os dknl` beiezyèusger tbot

portnjucor occkck (beieikolnl` tbk soik). Ger kxoipck, ol nlhnvnhuoc wbe bos rkjknvkh ol occkck ger drewl

kyks grei tbk ietbkr olh tbk gotbkr (n.k., Drewl/Drewl er D/D), tbk eggsprnl` wncc dk beiezyèus ger tbk kyk

jeceur.

Bktkrezyèus

Ng ol nlhnvnhuoc rkjknvks o hnggkrklt occkck grei kojb porklt, tbky ork sonh te dk bktkrezyèus ger tbk occkck

(bktkreikolnl` hnggkrklt). Ger kxoipck, ol eggsprnl`, wbe rkjknvks elk occkck ger dcuk kyks olh oletbkr ger

drewl kyks, wncc dk bktkrezyèus (n.k., Drewl/Dcuk er D/d).


3/13

:


(j)Heinlolt vs. Tkjkssnvk

Ioly klks bovk twe octkrlotnvk occkcks= heinlolt(rkprkskltkh dy o jopntoc ckttkr) olh rkjkssnvk(rkprkskltkh

dy o cewkr josk) occkcks.

n. Heinlolt

Ol occkck tbot iosas er supprkssks tbk kxprkssnel eg o rkjkssnvk occkck. Nts prkskljk ocwoys ckohs te

kxprkssnel eg o heinlolt occkck (n.k., heinlolt occkck ns kxprksskh nl G/G er G/t).

nn. Tkjkssnvk

Ol occkck tbot ns kxprksskh elcy nl tbk beiezyèus rkjkssnvk `kletypk (n.k., twe nhkltnjoc jepnks eg

rkjkssnvk occkckk.`. g/g er d/d).

@klktnj hnserhkrs jol dk jouskh dy kntbkr heinlolt (k.`. Bultnl`tels hnskosk) er rkjkssnvk (k.`. ocdnlnsi olh

jystnj gndresns) occkcks.

Dkjousk tbk prkskljk eg o heinlolt occkck ocwoys rksucts nl tbk kxprkssnel eg nts tront, heinlolt `klktnj

hnserhkrs bovk o bn`bkr jboljk te `kt posskh te tbk lkxt `klkrotnel, tbol tbot eg rkjkssnvk `klktnj hnserhkrs.

Tkjkssnvk klktnj hnserhkrs tbot odsklt wbkl heinlolt occkcks ork kntbkr beiezyèus er bktkrezyèus. [lcnak

heinlolt klktnj hnserhkrs, o snl`ck rkjkssnvk occkck (rkspelsndck ger tbk hnserhkr) jollet jousk tbk klktnj

hnserhkr (k.`. O/o wbkrkOns tbk lerioc occkck olh ons tbk ocdnlnsi occkck). Nlhnvnhuocs wntb sujb rkjkssnvk

bktkrezyèus `kletypk ork sonh te dk o jorrnkreg tbk rkjkssnvk `klktnj hnserhkr. Jorrnkrs wncc poss tbksk

boriguc `klks (n.k., rkjkssnvk occkck rkspelsndck ger tbk hnserhkr) elte eggsprnl`.

Vullktts squork

XbkVullktts squorkns o snipck woy te rkprksklt tbk ponrnl` eg occ pessndck òiktk typks ger o snl`ck tront. Nt nsuskh te prkhnjt `kletypks eg eggsprnl` olh kxpkjtkh grkqukljy (er predodncnty) grei alewl `kletypks eg twe

porklts.

Xbk `kletypnj rotnens tbk rotne eg tbk rksuctolt `kletypks. Nl tbk todck odevk, tbk `kletypnj rotne ns R/R=R/^ 9

?=?, wbnjb ikols tbkrk ns o ;6% jboljk eg rkjknvnl` kntbkr R/R er R/^.

Xbk pbkletypnj rotnens tbk rotne eg tbk pbkletypks kxprksskh dy tbk rksuctolt `kletypks (R/R ns gkiock olh

R/^ ns iock). Xbk pbkletypnj rotne eg tbk kxoipck odevk ns tbkrkgerk gkiock=iock 9 ?=?.

Nt ns nipertolt te letk tbot tbk predodncnty eg `kletypk (n.k., tbk `kletypnj rotne) lkvkr jbol kh, tbot ns, kojb

eggsprnl` bos tbk soik predodncnty eg rkjknvnl` `kletypk. Olh kojb ns ol nlhkpklhklt kvklt wbnjb bos le

nlgcukljk el tbk lkxt elk (k.`. echkr sndcnl`s`kletypk bos le nlgcukljk el tbk predodncnty eg `kletypk tbot

yeul`kr sndcnl`s wncc bovk).


4/13

8


Vkhn`rkk

Opkhn`rkk ns elk eg iomer ovkluks ger nhkltngynl` jorrnkrs eg hktrnikltoc `klks1 uskh nl hno`lesns eg `klktnj

hnserhkrs, olh `klktnj sjrkklnl` olh jeulskccnl`. Nt rkprksklts tbk goincy bnstery dy trojnl` o `klktnj tront

tbreu`b skvkroc klkrotnels, wbnjb bkcps prkhnjt tbk guturk.

O iktbeh eg hrownl` o pkhn`rkk=

?) Jecckjt pbkletypk nlgeriotnel grei goincy ikidkrs

4) Letk loik, H.E.D, `klhkr olh ikhnjoc bnstery ktj.

:) Tkjerh portlkrs (speusk)

8)

Vrejkkh tbreu`b eggsprnl`, porklts & sndcnl`s;) Tkjerh portlkrs sndcnl`s olh tbknr jbnchrkl

7) Tkjerh sndcnl`s eg porklts, olh tbknr porklts olh jbnchrkl

0) Tkjerh occ geur `rolhporklts, olh tbknr sndcnl`s ng pessndck

* Oppcy tbk rucks eg tronts nlbkrntoljk iehks te hkhujk tbk `kletypks eg oly goincy ikidkr wntb ulalewl `kletypk.

Jorrnkr


5/13

;


Iehks eg Nlbkrntoljk

(o)Outeseioc heinlolt-rkjkssnvk nlbkrntoljk

Xbk iehk eg nlbkrntoljk nl wbnjb tbk `klk rkspelsndck ger tbk tronts eg nltkrkst ns jorrnkh el elk eg tbk

outeseiks(lel-skx jbreieseiks). Elk occkck ns heinlolt evkr tbk etbkr nl oppkoroljk. Kxoipcks eg tbns

nlbkrntoljk ork wnhewspkoas, hnipcks olh grkjacks. Xbk tront eg nltkrkst jol dk kntbkr heinlolt er rkjkssnvk.

n. Outeseioc heinlolt

Xbns iehk eg nlbkrntoljk bos o vkrtnjoc pkhn`rkk pottkrl (skk Gnùrk :)1 tbot ns, tbk tront ns kxprksskh (er

geulh) nl iuctnpck `klkrotnel.

Gnùrk :=Xbk vkrtnjoc pkhn`rkk pottkrl eg outeseioc heinlolt nlbkrntoljk

nn. Outeseioc rkjkssnvk

Xbk outeseioc rkjkssnvk nlbkrntoljk bos o bernzeltoc pkhn`rkk pottkrl (skk Gnùrk 8)1 tbot ns, tbk tront

(er hnserhkr) ns geulh nl tbk soik `klkrotnel dut egtkl sanps tbk `klkrotnels.

Gnùrk 8=Xbk bernzeltoc pkhn`rkk pottkrl eg outeseioc rkjkssnvk nlbkrntoljk

Iocks & gkiocks ork kquoccy oggkjtkh

Xbk tront ns trolsinttkh dy detb `klhkrs

Kojb oggkjtkh nlhnvnhuoc usuoccy bos ol oggkjtkh

porklt

Kojb eggsprnl` eg ol oggkjtkh nlhnvnhuoc bos o

;6% jboljk eg dknl` oggkjtkh.

Ger kxoipck, Bultnl`tels hnskosk (BH).

Iocks & gkiocks ork kquoccy oggkjtkh

Jelsolùnlkeus iotnl` ns seiktniks nlvecvkh

Vorklts & jbnchrkl eg oggkjtkh nlhnvnhuocs ork

egtkl uloggkjtkh

Zudskquklt sndcnl`s eg oggkjtkh nlhnvnhuocs bovk

o 4;% jboljk eg dknl` oggkjtkh.

Ger kxoipck, ocdnlnsi, jystnj gndresns, Xoy-sojbshnskosk olh snjack jkcc hnskosk.


6/13

7


R-jbreieseik

jorrnks 4,;66 `klks

ioly eg tbksk `klks jehk ger pretknls nipertolt

ger dronl guljtnels (R-jbreieseik geulh nl

detb `klhkrs)

^-jbreieseik

jorrnks odeut ?; `klks

iest `klks rkcotkh te iocklkss gojters

elcy ;% jehk ger lel-skxuoc tronts

(d)R-cnlakh nlbkrntoljk

@klks rkspelsndck ger tbk tront eg nltkrkst ns jorrnkh el tbk R-jbreieseik (skx-cnlakh hnserhkrs ork usuoccy R-

cnlakh dkjousk ^-cnlakh hnserhkrs ork kxtrkikcy rork). Nt ns nipertolt te letk tbk hnggkrkljk dktwkkl R olh ^

jbreieseiks dkjousk tbky ork let beieceèusnl tbk truk sklsk (skk Gnùrk ; dkcew).

Gnùrk ;=Xwe skx jbreieseiks, R olh ^.

Nt ns ocse nipertolt te letk tbk hnggkrkljk nl `kletypks dktwkkl hnggkrklt `klhkrs=

Gkiock(RR) nlbkrnts twe R-jbreieseikselk R grei kojb porklt.

Iock(R^) ocwoys nlbkrnts elk R jbreieseik grei ietbkr olh elk ^ jbreieseik grei gotbkr.

Dkjousk iocks bovk le jerrkspelhnl` occkckel ^-jbreieseik, R-cnlakh hnserhkrs (wbnjb ork usuoccy

rkjkssnvk) oggkjt iocks ociest kxjcusnvkcy. Olh R-cnlakh tronts typnjoccy nlbkrntkh grei bns ietbkr.

Xbk hnggkrkljk dktwkkl R olh ^ jbreieseiks, olh tbk hnggkrkljk nl `kletypks dktwkkl `klhkrs ojjeult ger

`klhkr-dnoskh loturk eg R-cnlakh rkjkssnvk hnserhkrs.

Ger kxoipck,pullkts squorkger jeceur-dcnlhlkss=

Doskh el tbns Vullktt squork nlgeriotnel, hktkrinlk tbk prepertnel eg jbnchrkl wncc dk jeceur dcnlh.

Ocse, jeipork tbk pbkletypnj rotne eg iock eggsprnl` olh eg gkiock eggsprnl`, olh ng tbkrk ns o hnggkrkljk,

kxpconl wby.

lerioc

jeceur dcnlhlkss (rkjkssnvk occkck)

Letk tbot ^ jbreieseik heks let jorry

jeceur-dcnlhlkss occkck


7/13

0


Olswkr=

Xbkrk ns o 4;% jboljk eg dknl` oggkjtkh.

Occ gkiock eggsprnl` wncc bovk lerioc vnsnel, dut tbkrk ns o ;6% jboljk eg dkjeinl` o jorrnkr eg jeceur-

dcnlhlkss. Ger iock eggsprnl`, tbkrk ns o ;6% jboljk eg dknl` oggkjtkh (Rjd/^).

Tkh/`rkkl jeceur dcnlhlkss ns tbkrkgerk ierk jeiiel nl iocks. Xbns ns dkjousk tbky bovk elk ^ jbreieseik

wbnjb heks let jorry kntbkr lerioc occkck (JD) er jeceur-dcnlhlkss occkck. Xbus, iocks wntb elk oggkjtkh R-cnlakh occkck (Rjd/^) wncc dkjeik oggkjtkh (wbnjb ns typnjoccy nlbkrntkh grei bns ietbkr).

Lew, cktsceea ot tbk pkhn`rkk pottkrl eg tbns iehk eg nlbkrntoljk (skk Gn`urk 7).

Gn`urk 7=Aln`bts ievk pkhn`rkk pottkrl eg R-cnlakh rkjkssnvk nlbkrntoljk

Iocks oggkjtkh ociest kxjcusnvkcy

Xrolsinttkh grei ietbkrs te sels

Lkvkr hnrkjt iock-te-iock trolsinssnel

Nt ns nipertolt te letk tbot trolsinssnel eg R-cnlakh rkjkssnvk `klktnj hnserhkr lkvkr ejjurs dktwkkl iock olh

iock (n.k., gotbkr te sel). Xbns ns dkjousk gotbkr ocwoys poss bns ^ jbreieseik te bns sel, olh sel ocwoys

rkjknvks R jbreieseik grei bns ietbkr (wbe ioy dk o jorrnkr gkiock).

(j)Je-heinlolt nlbkrntoljk

Je-heinloljk, ocse alewl os iuctnpck-occkck nlbkrntoljk, ns jeiiel iehk eg nlbkrntoljk. Nt nlvecvks ierk

tbol twe octkrlotnvk occkcks. Ger kxoipck, tbk ODE dceeh `reups ork hktkrinlkh dy tbrkk occkcks eljbreieseik >, hksn`lotkhO,D, olh e. Letk tbot tbkrk ork twe heinlolt occkcks ger tbk ODE dceeh `reups.

Os tbk loik eg je-heinloljk(je-ikols wntber te`ktbkr) su``ksts, wbkl twe heinlolt occkcks (n.k.,OolhD)

oppkor te`ktbkr, tbknr pbkletypks wncc dk kvklcy kxprksskh. Xbkrkgerk, ol nlhnvnhuoc wntb typk OD dceeh bos o

`kletypk eg O/D wbnjb ikols tbot detb O olh D surgojk oltn`kls ork prksklt el rkh dceeh jkccs. Lkntbkr eg

heinlolt occkcks ns heinlolt ler rkjkssnvk te kojb etbkr.

Dceeh `reup @kletypk Vbkletypk (Zurgojk Oltn`kl)

O NOOer NOe oltn`kl O

DNDD

erNDe

oltn`kl DE Nee lnc

OD NOD oltn`kl O olh D

Aln`bts ievk=

ioy oppkor te

sanp o `klkrotnel

[suoccy oggkjtkh

`rolhgotbkr te`rolhsel


8/13

2


(h)Etbkr iehk eg nlbkrntoljk

Nl ohhntnel te tbrkk ionl iehks hnsjusskh korcnkr, tbkrk ork etbkr ulusuoc er ierk jeipckx iehks eg

nlbkrntoljk sujb os nljeipcktk heinloljkolhpecy`klnj heinloljk.

Ioly pbkletypks er pbysnjoc tronts eg nlhnvnhuoc buiol dknl`s ork let hktkrinlkh dy o portnjucor `klk, dut

rkprkskltkh dy ierk tbol elk `klk. Xbns typk eg nlbkrntoljk ns tbkrkgerk jocckhpecy`klktnj (pecy- ikols

iuctnpck er ioly) nlbkrntoljk. Os o rksuct, tbk `klktnj pessndncntnks eg eggsprnl` ork ierk jeipcnjotkh te prkhnjt

(jeiporkh te outeseioc heinlolt-rkjkssnvk nlbkrntoljk).

Zujb vornotnels nl pbkletypks kxpconl ioly buiol jborojtkrnstnjs sujb os sanl jeceur, bkn`bt, iktodecnj rotk

olh nltkccn`kljk. Ger kxoipck, tbkrk ork iuctnpck `klks ger sanl jeceur, se tbk petkltnoc luidkrs eg

jeidnlotnels eg occkcks grei ietbkr olh gotbkr tbot ork rkspelsndck ger sanl jeceur ork quntk bn`b.

@klktnjs eg sanl jeceur vornotnel jol dk snipcngnkh os dkcew (Letk tbot tbkrk ork o luidkr eg `klks olh ntsocckcks rkspelsndck ger sanl jeceur1 ierk tbol dkcew)=

Hora sanl occkcksO,D, J

Cn`bt/pock sanl occkckso, d, j

Ze ol nlhnvnhuoc wntb OODDJJ `kletypk weuch dk kxpkjtkh te bovk vkry hora sanl jeceur (pbkletypk),

wbkrkos tbesk wntb ooddjj `kletypk weuch bovk vkry pock sanl jeceur.

Nl ohhntnel te tbksk `klktnj vornotnels, klvnrelikltoc gojters, sujb os oieult eg tnik nl tbk sul olh uso`k eg

sul pretkjtnel, nlgcukljk tbk uctniotk pbkletypk eg tbk nlhnvnhuoc.

Xbk jeljkpt eg pecy`klktnj nlbkrntoljk wncc dk hnsjusskh gurtbkr nl tbk lkxt jboptkr nl rkcotnel te tbk

nlbkrntoljk eg klktnj hnserhkrs.


9/13

>


@klktnj Hnserhkrs

Nl ohhntnel te tbk `klktnj hnserhkrs nltrehujkh nl tbk prkvneus jboptkrs (wbnjb nlvecvk occkcks er o snl`ck `klk),

tbkrk ork etbkr typks eg klktnj hnserhkrs sujb os jbreieseioc hnserhkrs olh iuctngojternoc (pecy`klnj)

hnserhkrs. Jborojtkrnstnjs eg tbksk typks eg `klktnj hnserhkrs ork suiiornskh nl tbk dex dkcew=

(o)Jbreieseioc odleriocntnks

@klktnj hnserhkrs nl wbnjb tbk kltnrk jbreieseik er cor`k skìklts eg jbreieseiks ork inssnl`, hupcnjotkh

er octkrkh. Jbreieseioc odleriocntnks jol dk jotkèrnskh osstrujturocer luikrnjoc. Ztrujturoc odleriocntnks

ork usuoccy huk te drkoao k, rksuctnl` nl iuctnpck jel`klntoc odleriocntnks ot dnrtb. Luikrnjoc odleriocntnks ork

huk te odlerioc luidkrs eg jbreieseiks sujb os elk kxjkss R jbreieseik nl iock (n.k., RR^).

Os yeu ioy bovk nio`nlkh, tbns ns o vkry skvkrk geri eg `klktnj hnserhkrs, oggkjtnl` ierk tbol elk `klk. [lhkr

twe ionl jotkèrnks eg jbreieseioc odleriocntnks, tbkrk ork o luidkr eg hnggkrklt typks eg hnserhkrs, dut bkrkwk wncc gejus el twe typks= outeseioc trnseiy olhskx jbreieseik trnseiy. Detb typks ork luikrnjoc typk eg

jbreieseioc odleriocntnks os trnseiy ikols tbrkk jbreieseiks eg elk portnjucor jbreieseik (n.k., elk kxtro

jbreieseik prksklt).

n. Outeseioc trnseiy

Outeseioc trnseiy ns o trnseiy nl wbnjb tbkrk ork tbrkk jepnks eg o portnjucor outeseik (lel-skx

jbreieseik), nlstkoh eg tbk lerioc twe (o ponr). Ger kxoipck, Hewls sylhreik ns o trnseiy-4?

wbnjb ikols tbkrk ork tbrkk jepnks eg jbreieseik 4? (skk Gnùrk 0 dkcew).

Gnùrk 0=Nlbkrntoljk eg Hewls sylhreik

Hewls sylhreik ns tbk jeiielkst outeseioc trnseiy wntb o bn`b nljnhkljk nl jbnchrkl eg echkr

ietbkrs.


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nn. Zkx jbreieseik trnseiy

Zkx jbreieseik trnseiy ns o trnseiy nl wbnjb tbkrk ork tbrkk jepnks eg o portnjucor skx jbreieseik

(kntbkr R er ^), nlstkoh eg tbk lerioc twe (o ponr). Nl jeipornsel te outeseioc trnseiy, tbns typk ns let

skvkrk, olh jol dk teckrotkh.

Ger kxoipck, Xurlkr sylhreik (8;, R)4ns jouskh dy tbk cess eg elk R jbreieseik nl gektoc jkccs,

prehujnl` o gkiock gektus wntb 8; jbreieseiks (lerioccy wk bovk 87 jbreieseiks). Xbns sylhreik

ns ossejnotkh wntb pudkrtoc goncurk:, er nlgkrtnck, egtkl sbert stoturk dut o gkiock wntb lerioc nltkccn`kljk.

Gn`urk 2=Aoryetypk eg Xurlkr sylhreik (el tbk ckgt) olh eg Acnlkrgkctkr sylhreik (el tbk rn`bt).

Oletbkr kxoipck nsAcnlkgkctkr sylhreik (80, RR^) ns jouskh dy elk kxjkss R jbreieseik nl gektoc

jkccs, prehujnl` o iock gektus wntb 80 jbreieseiks. Xbns sylhreik ns ossejnotkh wntb pudkrtoc goncurk,

nlgkrtnck, scn`btcy cewkr N_ tbol bns sndcnl`s (dut stncc wntbnl tbk lerioc rol`k), egtkl tocc wntb gkiock

hnstrndutnel eg dehy got (n.k., cor`kr bnps olh drkosts tbol lerioc 87, R^ iocks).

(d)Znl`ck-`klk hnserhkrs

Znl`ck-`klk hnserhkrs nlvecvk ol octkrlotnel nl elk portnjucor `klk, wbnjb wkrk hnsjusskh nl tbk prkvneus

jboptkrs. Xypks eg snl`ck-`klk hnserhkrs nljcuhk (dut let cnintkh te) outeseioc heinlolt er rkjkssnvk, olh R-

cnlakh rkjkssnvk hnserhkrs.

Eg ioly snl`ck-`klk hnserhkrs, ckts kxpcerkBultnl`tels hnskosk(BH) gurtbkrwbnjb ns ol outeseioc

heinlolt klktnj hnserhkr.

4Xbns ns o woy eg rkpertnl` aoryetypks. Lerioc aoryetypk ns rkprkskltkh os 87, RR er 87, R^ (tbk luidkr ns rkgkrrnl` te tbk tetoc luidkr eg occjbreieseiks prksklt).:Evkr >;% eg josks ns rkpertkh te dk rksuctkh nl korcy speltolkeus cess eg tbk gektus


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Bultnl`tels hnskosk (BH)

O pre`rkssnvk lkurehk`klkrotnvk hnskosk jborojtkrnskh dy grkquklt uljeltreccodck ievkiklts olh skvkrk

hkikltno. Nt ns o cotk-elskt hnskosk wntb ikol elskt nl dktwkkl :; te 88 ykors eg o`k. Nlhnvnhuocs wntb BH bovk

o ikhnol survnvoc tnik eg ?; te ?2 ykors ogtkr tbk elskt eg syipteis. Os tbk hnskosk scewcy pre`rkss, nlhnvnhuoc

wntb BH kxpkrnkljk lkw syipteis.

@klkroccy, tbk pre`rkssnel eg syipteis ns os geccews=

Korcy syipteisieeh hnsturdoljks8, je`lntnvk hkgkjts, jcuisnlkss, niponriklt eg vecultory ievkiklt

Zkjelh sto`kscurrkh spkkjb, bypkrrkgckxno, jberko, ont odleriocntnks, dkbovneuroc hnsturdoljks

Ohvoljkh syipteisdrohyanlksno, rn`nhnty, hkikltno, hystelno, hyspbo`no

Votbepbysnece`y= Ikjbolnsi eg BH

Xbk iutotnel rkspelsndck ger BH ns ol kxpolsnel eg o rkpkotkh HLO skqukljk nl tbk BH `klk. Xbns ckohs te

prehujtnel eg o texnl pretknl nl tbk strujturk jocckh dosoc lujckn (wbnjb ionlcy jeerhnlotk vecultory ievkiklt,

occewnl` o gnlk tulkh ievkiklt). Xexnl pretknls wncc dk `rohuoccy ojjuiucotkh nl tbk dronl, olh gnloccy rkojb

suggnjnklt texnjnty te ancc egg lkurels. Evkr tnik, BH jousks wnhksprkoh hktkrnerotnel eg dronl tnssuks eutsnhk

tbk dosoc lujckn, wbnjb kxpconls nts cotk-sto`k syipteis.

Os kxpconlkh prkvneuscy, eggsprnl` eg ol nlhnvnhuoc wntb BH bovk o ;6% jboljk eg nlbkrntnl` tbk hnskosk. Xbns

ns dkjousk tbk iehk eg nlbkrntoljk eg BH ns outeseioc heinlolt.

(j)Iuctngojternoc (Vecy`klnj) hnserhkrs

Xbk jeljkpt eg iuctngojternoc nlbkrntoljk nipcnks tbot o hnskosk ns jouskh dy tbk nltkrojtnel eg skvkroc ohvkrsk

`klktnj (pecy`klnj) olh klvnrelikltoc gojters. Xbk klktnj jeltrndutnel te hnskosk vornks1 seik hnserhkrs ork

kltnrkcy klvnrelikltoc olh etbkrs ork wbeccy `klktnj. Bewkvkr, ioly jeiiel hnserhkrs olh hnskosk he let

geccew snipcy pottkrls eg nlbkrntoljk wntbnl o goincy.

Xbk tkri iuctngojternoc er pecy`klnj nlbkrntoljk bovkl dkkl uskh te hksjrndk tbk oktnece`y eg tbksk hnserhkrs.

Os yeu ioy kxpkjt, sujb jeipckxnty eg hnskosks olh hnserhkrs kipbosnsks tbk nipertoljk eg ulhkrstolhnl`

detb `klktnj olh klvnrelikltoc gojters tbot jeltrndutkh te hkvkcepiklt eg o potnklts hnskosk. Xbns wncc bkcp

yeu hkvkcep ol nlhnvnhuocnskh lursnl`/inhwngkry pcol ger kojb potnklt.

8Vessndck ieeh hnsturdoljks ioy nljcuhk= kxpcesnvklkss, opotby, o``rkssnel, ocjebec odusk ktj.

BBultnl`tels hnskosk occkck (heinlolt)

bLerioc occkck (rkjkssnvk)

O predcki wntb BH ns tbot iest oggkjtkh pkepck

bovk eggsprnl` dkgerk tbk elskt eg syipteis (wbnjb

ns usuoccy dktwkkl :; te 88 ykors eg o`k).


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Xbk jeljkpt hksjrndkh nl tbk gnrst poro`ropb jol dk rkprkskltkh nl o jeltnluui eg hnskosks (skk Gnùrk > dkcew).

Gnùrk >=o jeltnluui eg seik jeiiel hnserhkrs

Ierk kxoipcks eg iuctngojternoc olh pecy`klnj hnserhkrs ork prevnhkh nl tbk todck dkcew.

êu ioy welhkr= Eaoy, N `kt tbot iuctngojternoc hnskosks nlvecvk detb `klktnj olh klvnrelikltoc gojters. Dut

wbot ng o iuctngojternoc hnskosk nlvecvks ierk tbol elk `klk5 Peuchlt nt dk tbkl pecy`klnj dy hkgnlntnel5

Nl seik etbkr `klktnj tkxtdeeas er meurloc ortnjcks, tbk tkri iuctngojternoc nlbkrntoljk nipcnks tbot o hnskosk ns

jouskh dy tbk nltkrojtnel eg skvkroc ohvkrsk klktnj olh klvnrelikltoc gojters;.

Nl klkroc, iuctngojternoc hnskosks nlvecvk tbk nltkrojtnel dktwkkl klktnj olh klvnrelikltoc gojters, wbkrkos

pecy`klnj hnserhkrs nlvecvk iuctnpck `klks. Ierkevkr, klvnrelikltoc gojters (nl klkroc) bovk le kggkjts el

pecy`klnj hnserhkrs1 tbot ns, jel`klntoc (derl wntb hnserhkrs).

;bttp=//`br.lci.lnb.èv/bolhdeea/iutotnelsolhhnserhkrs/jeipckxhnserhkrs1Anl`stel 4664, p. 04 grei Jcnlnjoc @klktnjs ODJ
http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/complexdisordershttp://ghr.nlm.nih.gov/handbook/mutationsanddisorders/complexdisordershttp://ghr.nlm.nih.gov/handbook/mutationsanddisorders/complexdisordershttp://ghr.nlm.nih.gov/handbook/mutationsanddisorders/complexdisorders


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Jeipckx Hnskosks

Xbkrk ork elcy seik hnserhkrs tbot ork jouskh dy iutotnels nl o snl`ck `klk (k.`. snjack jkcc hnskosk olh jystnj

gndresns). Xbk jousks eg ioly etbkr hnserhkrs, bewkvkr, ork iujb ierk jeipckx olh ioy dk nlbkrntkh os

jeipckx tronts.

Jeiiel hnskosks olh hnserhkrs, sujb os bkort hnskosk, hnodktks olh edksnty, he let bovk o snl`ck `klktnj jousk.

Bewkvkr, tbky ork ossejnotkh wntb tbk kggkjts eg iuctnpcks `klk nl jeidnlotnel wntb cngkstyck olh klvnrelikltoc

gojters. @klktnj rkskorjbkrs ork ckorlnl` ierk odeut klktnjs eg jeiiel hnserhkrs, olh stuhynl` tbk reck eg

vorneus `klks tbot pcoy nl hnskosk. Xbknr stuhy olh wera ork let cnintkh te `klktnj hnserhkrs, dut ocse nljcuhk

jeiiel ncclkssks sujb ostbio, ortbrntns olh Oczbknikr hnskosk.

Nl `klkroc, `klktnj gojters oggkjt tbk susjkptndncnty te tbksk jeipckx hnskosks. Nt ns nipertolt te letk tbot `klktnj

gojters nltkrojt wntb klvnrelikltoc gojters, wbnjb ikols tbot, ng cngkstyck olh klvnrelikltoc gojters ork wkcc-

jeltrecckh (k.`. rkùcor kxkrjnsk olh bkoctby hnkt), tbk rnsa eg edksnty wncc dk rkhujkh. Xbkrkgerk, kvkl ng,

nlhnvnhuocs bovk rkjknvkh edksnty `klks grei tbknr porklts, tbkrk ns stncc o èeh jboljk eg prkvkltnl` nt.

Gnùrk ?6=o iehkc eg edksnty (Letk= tbkrk ork etbkr iehkcs eg edksnty).

Xodck=Zeik edksnty `klks geulh te dk ossejnotkh wntb edksnty

Os yeu stuhy o potbepbysnece`y jeursk olh etbkr jcnlnjoc jeursks, yeu wncc jeik ojress wntb `klktnjs eg o

portnjucor hnskosk er hnserhkr, os wkcc os klvnrelikltoc gojters, nl tbk Kpnhkinece`y skjtnel. êucc letnjk tbot

tbk iomer hnggkrkljk dktwkkl tbksk gojters ns tbot klktnj rnsa gojters ork uliehngnodck, wbkrkos klvnrelikltoc

gojters ork iehngnodck.

Ger kxoipck, `klktnj gojters ojjeult ger odeut elk-tbnrh eg tbk susjkptndncnty te typk ? hnodktks, tbk nlbkrntoljkeg wbnjb ns pecy`klnj. Eg ioly hnggkrklt rk`nels, elk portnjucor cejus ns hksn`lotkh typk ? hnodktks, olh ns

ossejnotkh wntb nljrkosks susjkptndncnty nl Joujosnols. Cost uphotkh=?; Mulk 46?8 dy HT M

Documents

1.0 Genetics and Inheritance