Ifa autosomal evelele. Izinhlobo ifa zezici e abantu

Zonke izici zomzimba wethu avele ngaphansi kwethonya zofuzo. Ngezinye izikhathi unesibopho isakhi sofuzo esisodwa kuphela, kodwa kaningi kwenzeka ukuthi amayunithi eziningana zofuzo banesibopho ukubonakaliswa trait.

Sekuvele ngokwesayensi kungase kutholakale ukuthi ukubonakaliswa wobuntu ngezici ezinjengobumnene ibala, izinwele, amehlo, degree of kwengqondo kuxhomeke kulokho okwenzeka zezakhi zofuzo amaningi ngesikhathi esisodwa. Leli fa akuyona ncamashi ilalela imithetho Mendel, kodwa kudlulela ngalé kwalo.

Ucwaningo zofuzo lomuntu ayinantshisekelo kuphela kodwa futhi ebalulekile ngokuya ukuqonda ilifa ahlukahlukene izifo sitholwa njengefa. Manje abe ukwelashwa ngempela ngezihloko ezihlukene imibhangqwana esemisha ukwelulekwa zofuzo, ukuze ihlaziye lozalo womshado ngamunye, ungase ngokuqiniseka ukuthi ingane ozozalwa enempilo.

Izinhlobo ifa zezici e abantu

Uma wazi indlela ifa isici esithile, kungenzeka ukubikezela Amathuba ukubonakaliswa yayo inzalo. Zonke izimpawu emzimbeni zingahlukaniswa zibe ephezulu kanye esikhubazayo. Ukuxhumana phakathi kwazo ilula kangaka, futhi ngezinye izikhathi Akwanele ukwazi ukuthi yiluphi uphawu olusetshenziswa isigaba cha.

Manje izwe yesayensi, zikhona lezi zinhlobo ezilandelayo ifa abantu:

1. ifa Monogenic.
2. Polygenic.
3. Unconventional.

Lezi zinhlobo ifa, zibuye futhi ohlukeneko ku eziningana zezitshalo.

At inhliziyo ifa monogenic kukhona lokuqala nelesibili imithetho Mendel. Polygenic esekelwe umthetho wesithathu. Lokhu kusho ifa zezakhi zofuzo eziningi, ngokuvamile-non-allelic.

Unconventional ifa okungukuthi isidingo sokulalela imithetho ufuzo futhi wenziwa lwakhe., akekho owaziyo imithetho.

monogenic ifa

Lolu hlobo ilifa zimfanelo abantu kungaphansi kwemithetho Mendeleev. Sikhishwe iqiniso lokuthi genotype likhona ku ezimbili alleles ka isakhi ngasinye, budlelwane emkhatsini wetincenye nowesifazane, ufuzo besilisa kubhekwe ngokuhlukile pair ngamunye.

Ngokusekelwe lokhu, zikhona lezi zinhlobo ezilandelayo ifa:

1. Autosomal evelele.
2. Autosomal esikhubazayo.
3. Esixhunyiwe nge X-exhumene ifa evelele.
4. X-exhumene esikhubazayo.
5. ifa Golandricheskoe.

Uhlobo ngalunye ifa has izici zayo siqu kanye nezici.

Izimpawu ze-autosomal ifa evelele

Ifa autosomal evelele - lena ifa izici evelele zazo zitholakala autosomes. ukubonakaliswa Phenotypic bona zingase zishintshe kakhulu. Ezinye inkomba kungaba kancane obonakalayo, futhi ngezinye izikhathi okukhulu kakhulu ukubonakaliswa yayo.

Ifa autosomal evelele has izici ezilandelayo:

1. Isiguli uphawu kuzibonakalisa zonke izizukulwane.
2. Inombolo iziguli futhi unempilo mayelana efanayo, futhi babo 1: 1 isilinganiso.
3. Uma izingane abazali abagulayo ozalwa okunempilo, bese izingane zabo bayoba nemphilo lenhle.
4. Lesi sifo ngokulinganayo kuthinta kokubili abafana namantombazane.
5. Lesi sifo idluliselwa ngendlela efanayo amadoda nabesifazane.
6. Umthelela aqinileko umsebenzi zokuzala, aba maningi amathuba nesenzakalo yokwanda koshintsho ezahlukene.
7. Uma bobabili abazali abagulayo, umntwana azalwe homozygote ngoba le mfanelo, ogulayo nzima uma kuqhathaniswa ne heterozygote.

Zonke lezi zici ziyafezeka kuphela ngaphansi kombandela okulawula ephelele. Ngakho kuphela khona olulodwa evelele isakhi sofuzo luyoba olwanele ukubonakaliswa izimpawu. Ifa autosomal evelele kungabonakala nasemkhakheni womuntu ifa freckles, ezisontekile, amehlo ansundu, nabanye abaningi.

Autosomal imfanelo evelele

Iningi abantu abangasinaki abathwali i autosomal izici evelele sokugembula elikule mali heterozygotes. Ziningi izifundo qinisekisa ukuthi homozygotes evelele kwezinso maningi sina futhi ezinzima izimpawu kuqhathaniswa ne heterozygotes.

Lolu hlobo ifa nezimfanelo zomuntu kuphela izimpawu sokugembula, kodwa ezinye ziyezwakala ngempela nokunye ngofuzo.

Phakathi izibonakaliso evamile nge lolu hlobo ifa bangase waphawula:

1. ezisontene.
2. Dark amehlo.
3. impumulo iqonde.
4. Idolo ekhaleni.
5. Impandla zisencane ezingabantu.
6. Kwesokudla handedness.
7. Ikhono ukuvala ulimi ngamapayipi.
8. Isifaca e yakhe kwesilevu.

Phakathi anomalies ukuthi ube uhlobo ifa lingenxa autosomal evelele aziwayo kakhulu:

1. Polydactyl kungaba esandleni noma ngezinyawo zabo.
2. Fusion kwezicubu phalanges.
3. Brachydactyly.
4. syndrome-Marfan.
5. Myopia.

Uma ukubusa akuphelele, okubonakalisa izimpawu kungabonakala nasemkhakheni zonke izizukulwane.

Autosomal ifa esikhubazayo

Izibonakaliso kulolu hlobo ifa okungukuthi kuphela uma kumiswa homozygotes salokhu egunjini lokuhlolwa kwezifo. izifo okunjalo kuvame kakhulu, ngoba ezimbili alleles elilodwa isakhi sofuzo kungenzeka engaphelele.

Amathuba lezi zimpawu kwanda kuya eduze ahlobene imishado, ngakho-ke, ukuphetha umfelandawonye kwezihlobo akuvunyelwe emazweni amaningi.

The main nendlela ezifana ifa khona yilena elandelayo:

1. Uma bobabili abazali iphilile, kodwa kukhona abathwali of ukuqothuka kwezinwele okungavamile kuphelile isakhi sofuzo, umntwana kuyoba ogulayo.
2. Ubulili wengane ingadlali likhona iqhaza ukulandelana.
3. Omunye imibhangqwana ingozi yokuba enye ingane ne zokugula esifanayo 25%.
4. Uma ubheka lozalo ke kuyofikwa ukusatshalaliswa ovundlile iziguli.
5. Uma bobabili abazali uyagula, wabe zonke izingane ozozalwa abanalesi sifo.
6. Uma omunye umzali okungukuthi ogulayo, futhi ezinye okungukuthi othwala isakhi sofuzo ke ematfuba ogulayo ingane lokuzalwa okungukuthi 50%

Ngokusho lolu hlobo ngofuzo eziningi izifo okuhlobene umzimba.

Uhlobo ifa, exhumene kuya X chromosome

Leli fa kungaba evelele enginayo noma esikhubazayo. Izimpawu ifa evelele zimi kanje:

1. Okungenzeka bahlukunyezwe abesilisa nabesifazane, kodwa abesifazane 2 izikhathi kaningi.
2. Uma uyise okungukuthi uyagula, ikani pass abagulayo isakhi sofuzo kuphela yabo namadodakazi, ngoba amadodana ka-kuye Y-chromosome.
3. umama wesiguli Kuyathokozisa Cishe imivuzo evela leso sifo izingane zabo bobubili ubulili.
4. Esinda notshwala isifo ezingabantu, ngoba ungenalo yesibili X chromosome.

Uma kukhona sakhi sofuzo esikhubazayo, ifa has izici ezilandelayo-X chromosome:

1. A ogulayo ingane angazalwa futhi phenotypically evamile kubazali.
2. Iningi uhlushwa amadoda, nabesifazane abathwali isakhi sofuzo isiguli.
3. Uma uyise uyagula, khona-ke amadodana sezempilo singakunika Ungakhathazeki kuye, abakwazi ukuthola ukuthi isakhi sofuzo esinephutha.
4. Ehlile amathuba okushona ogulayo ingane lokuzalwa e abathwali lensikazi 25%, esimweni abafana, liyophuma ku-50%.

Ngakho ngofuzo izifo ezifana hemophilia, umbala ubumpumputhe, sokuwohloka kwemisipha, Kallmana syndrome nabanye.

Autosomal isifo evelele

Ukuthola ezinjalo izifo okungukuthi esanele abe engaphelele isakhi sofuzo uma okungukuthi evelele. Autosomal iziyaluyalu evelele ukwabelana ezinye izici:

1. Okwamanje, kunezinhlobo izifo mayelana 4,000 ezinjalo.
2. It ihlasela abesilisa nabesifazane ngokulinganayo.
3. Evelele phenotypic demorfizm.
4. Uma kuguquka kuba isakhi alawula gametes, ngokuqinisekile izovela isizukulwane sokuqala. Kuye kungase kutholakale ukuthi amadoda ngeminyaka kwandisa ingozi ukuguquka kwezakhi zofuzo ezifana, futhi ngenxa yalokho, izingane zabo, zingase zibe njalo umklomelo izifo ezinjalo.
5. Lesi sifo ngokuvamile kubonakala kuzo zonke izizukulwane.

Ukudla Ifa engaphelele isakhi esithile sisebenza i autosomal evelele isifo akuhlangene ne ubulili wengane kanye degree of ukuthuthukiswa kwalesi sifo ngo-umzali.

Ukuze autosomal evelele izifo zihlanganisa:

1. syndrome-Marfan.
2. Huntington.
3. Neurofibromatosis.
4. ukuqina kwamathishu Tuberous.
5. Polycystic isifo sezinso, kanye nabanye abaningi.

Zonke lezi zifo engaveza ngezindlela ezingafani iziguli ezahlukene.

-Marfan syndrome

Lesi sifo libhekene izilonda ezicutshini, futhi ngenxa yalokho, kusebenta kwato. Uhlasela nemilenze eside ngeminwe mncane ukunikeza isizathu lokucabanga syndrome-Marfan. uhlobo ifa zesifo - autosomal evelele.

Ungakwazi uhlu zimpawu ezilandelayo lokhu syndrome:

1. Slim.
2. Long "spidery" iminwe.
3. Kombungu kohlelo senhliziyo nemithambo yegazi.
4. Ukubukeka elula kumaka esikhumbeni ngaphandle kwesizathu.
5. Ezinye iziguli ukubika ubuhlungu bemisipha namathambo.
6. Ukuthuthukiswa ekuqaleni osteoarthritis.
7. Ugobile yomgogodla.
8. amalunga omzimba kakhulu nezimo.
9. Mhlawumbe inkulumo sifo.
10. Visual ukungakhuli.

Kungaba isikhathi eside ukuba ushayele izimpawu zesifo, kodwa iningi labo elihlobene ne-nohlaka lwamathambo. Imiphumela yaloku kuhlola okungenhla sokugcina senziwa ngemuva zonke izivivinyo yadlula, futhi izici isici atholakala isitho izinhlelo okungenani ezintathu.

Kungaphawulwa ukuthi ezinye zezimpawu musa sibonakalise ngokwabo ebuntwaneni, kodwa zibonakala kamuva.

Ngisho kwamanje, njengoba imithi siphakeme ngokwanele ukwelapha ngokuphelele-Marfan syndrome akunakwenzeka. Ukusebenzisa izidakamizwa yesimanje kanye nokwelashwa ubuchwepheshe, kungenzeka ukunweba ukuphila kweziguli kwenqatshwa futhi ekuthuthukiseni izinga layo.

I isici esibaluleke kunazo kwelashwa ukuvimbela ukuthuthukiswa isifo sokuvuvukala kwemithambo yomthambo i-aorta. Qiniseka ukuba ahlole wenhliziyo. Ezimweni ezimbi kakhulu ukusebenza kuboniswe ukufakelwa aorta.

chorea Huntington sika

Lesi sifo Ubuye uhlobo autosomal ifa evelele. Buqala avela kweminyaka eyi 35-50. Lokhu kungenxa ekulahlekelweni okuqhubekayo izinzwa. Emtholampilo singakwazi ukubona izici ezilandelayo:

1. ukunyakaza ngokungahlelekile lihambisana ithoni ongaphakeme.
2. nokuziphatha kwabantu ngokungafanele.
3. Nokunganakwa ukucasuka.
4. Ukubonakaliswa uhlobo schizophrenic.
5. lokhu kushintshashintsha kwemizwa.

Ukwelashwa kuhloswe kuphela ukuqeda noma ukunciphisa izimpawu. Sebenzisa zinhlungu, antipsychotics. Asilapheki okungavimba ukuqhubeka kwesifo, ngakho ngemva ngemva izimpawu zokuqala ukufa kwenzeka eminyakeni engaba ngu-15-17.

ifa polygenic

Eziningi zalezi izimpawu zesifo futhi ube uhlobo autosomal ifa evelele. Yini isivele ecacile, kodwa ezimweni eziningi akunjalo elula. Umbhali wayevame ukunezela lokhu ifa ngesikhathi esifanayo eyodwa, kodwa izakhi zofuzo eziningana. Bona ziyabonakala izimo ezithile zemvelo.

I lolwehlukanisa lokhu kuyikhono ukukhulisa ilifa umphumela ngazinye isakhi ngasinye. I izici eziyinhloko yalesi ifa khona yilena elandelayo:

1. Olunesisindo esikhudlwana lwaluba notshwala isifo, aba maningi amathuba asathuthuka lesi sifo izihlobo.
2. izimpawu eziningi multifactorial ezithinta ubulili ezithile.
3. Kukhula inani umndeni amalungu unawo amandla anjalo isici, ayanda ingozi othuthukayo lesi sifo ngokuzayo izingane.

Zonke izinhlobo ifa kusebenza the version zakudala, kodwa, ngeshwa, a izibonakaliso ezinkulu eziningi kanye isifo asikwazi bachaza, ngoba iyifa ezingahambisani nezivamile.

Lapho uhlela ukuzalwa komntwana, ningakwenqabi Ukuvakashela Ukwelulekwa zofuzo. Uchwepheshe abanekhono kuyokusiza ukuba uqonde obani okhokho bakho futhi ukuhlola ingozi yokuba ingane abanokukhubazeka.