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@klktnjs & Nlbkrntoljk
@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 Gn`urk ? dkcew).
Gn`urk ?=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 rk`ucotery pretknls, nl tbk dehy (skk Gn`urk 4 dkcew).
Gn`urk 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=true7/21/2019 1.0 Genetics and Inheritance
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@klktnjs & Nlbkrntoljk
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 er`olnsotnel eg HLO). Dkjousk jkccs (kxjkpt`oiktks) 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 tbot`oiktks(spkri olh k``s) jeltonl snl`ck jepnks eg kvkry occkck nl tbk buiol `kleik.
Xbot ns, jbreieseiks nl `oiktks ork let ponrkh, se `oiktks 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 `oiktks 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)Beiezy`eus vs. Bktkrezy`eus
Beiezy`eus
Ng ol nlhnvnhuoc rkjknvks twe nhkltnjoc jepnks eg ol occkck, tbky ork hksjrndkh os dknl` beiezy`eusger 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 beiezy`eus ger tbk kyk
jeceur.
Bktkrezy`eus
Ng ol nlhnvnhuoc rkjknvks o hnggkrklt occkck grei kojb porklt, tbky ork sonh te dk bktkrezy`eus ger tbk occkck
(bktkreikolnl` hnggkrklt). Ger kxoipck, ol eggsprnl`, wbe rkjknvks elk occkck ger dcuk kyks olh oletbkr ger
drewl kyks, wncc dk bktkrezy`eus (n.k., Drewl/Dcuk er D/d).
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@klktnjs & Nlbkrntoljk
(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 beiezy`eus 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 beiezy`eus er bktkrezy`eus. [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
bktkrezy`eus `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 `oiktk 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).
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@klktnjs & Nlbkrntoljk
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
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@klktnjs & Nlbkrntoljk
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 Gn`urk :)1 tbot ns, tbk tront ns kxprksskh (er
geulh) nl iuctnpck `klkrotnel.
Gn`urk :=Xbk vkrtnjoc pkhn`rkk pottkrl eg outeseioc heinlolt nlbkrntoljk
nn. Outeseioc rkjkssnvk
Xbk outeseioc rkjkssnvk nlbkrntoljk bos o bernzeltoc pkhn`rkk pottkrl (skk Gn`urk 8)1 tbot ns, tbk tront
(er hnserhkr) ns geulh nl tbk soik `klkrotnel dut egtkl sanps tbk `klkrotnels.
Gn`urk 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
Jelsol`unlkeus 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.
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@klktnjs & Nlbkrntoljk
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 beiece`eusnl tbk truk sklsk (skk Gn`urk ; dkcew).
Gn`urk ;=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
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@klktnjs & Nlbkrntoljk
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
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@klktnjs & Nlbkrntoljk
(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.
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@klktnjs & Nlbkrntoljk
@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 sk`iklts eg jbreieseiks ork inssnl`, hupcnjotkh
er octkrkh. Jbreieseioc odleriocntnks jol dk jotk`ernskh 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 jotk`ernks 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 Gn`urk 0 dkcew).
Gn`urk 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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@klktnjs & Nlbkrntoljk
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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@klktnjs & Nlbkrntoljk
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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@klktnjs & Nlbkrntoljk
Xbk jeljkpt hksjrndkh nl tbk gnrst poro`ropb jol dk rkprkskltkh nl o jeltnluui eg hnskosks (skk Gn`urk > dkcew).
Gn`urk >=o jeltnluui eg seik jeiiel hnserhkrs
Ierk kxoipcks eg iuctngojternoc olh pecy`klnj hnserhkrs ork prevnhkh nl tbk todck dkcew.
^eu 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.`ev/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/complexdisorders7/21/2019 1.0 Genetics and Inheritance
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@klktnjs & Nlbkrntoljk
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.`. rk`ucor 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 `eeh jboljk eg prkvkltnl` nt.
Gn`urk ?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. ^eucc 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