Ukuqonda amaphethini wefa kusukela kubazali kuya kwengane
Izifo zofuzo zibangelwa ukuguqulwa kwesakhi . Lokhu kuguquka kwezakhi zofuzo kungadluliselwa kubazali kuya kwengane ngesikhathi sokukhulelwa. Kungakhathaliseki ukuthi ingane izohlakulela isifo sofuzo sincike kakhulu ekuphatheni ifa.
Amaphethini wefa
Kunemithetho emibili ebikezela ukuthi kungenzeka ukuthi umuntu uzodla ifa lesifo somzimba.
Akuqinisekisi ukuthi lokhu kuzokwenzeka, kodwa kwandisa ingozi.
Isibonelo, umdlavuza webele nezifo ezizimele zikholelwa kakhulu ukuthi zihlobene nezakhi zofuzo. Kodwa-ke, ukuba khona kokuguquguquka akusho njalo kulesi sifo. Ngakolunye uhlangothi, ezinye izinguquko zofuzo, njengalezo ezihambisana ne- hemophilia , zizobonisa izici zengxabano (kungakhathaliseki ukuthi kunezigaba ezihlukene zobunzima).
Ukuzimisela ingozi kusekelwe kulokhu okulandelayo:
- Kungakhathaliseki ukuthi ikhophi eyodwa yegciwane lesiguquko (kusuka komzali oyedwa) noma amakhophi amabili (kokubili kubazali) izuzwe njengefa
- Kungakhathaliseki ukuthi ukuguqulwa komzimba kungenye ye-chromosomes yobulili (i-X noma i-Y) noma enye yezingu-22 ezinye izibili zama-chromosomes angewona ocansini (okuthiwa ama-autosomes)
Ngokusekelwe kuzici ezihlangene, singakwazi ukuhlukanisa lesi sifo njengesixhumi esixhunyiwe ku-X, esixhunyiwe ku-Y, si-autosomal ngokweqile, noma i-autosomal ephezulu.
Ukuhlukunyezwa okuxhunyiwe kwe-X-Linked
Ezingxenyeni ezixhumene nezixhumene ne-X, isakhi sofuzo esithintekayo senzeke ku-X (isifazane) i-chromosome.
Amadoda anesisindo esisodwa se-X nesinye se-Y, ngakho-ke isakhi esithintekile ku-X chromosome sanele ukudala lesi sifo.
Ngokuphambene, abesifazane banama-chromosomes amabili amabili, ngakho-ke isakhi esisetshenzisiwe ku-X chromosome eyodwa ngokuvamile sinomthelela omncane kowesifazane ngoba ikhophi engashintshi komunye ikhipha umphumela.
Kodwa-ke, owesifazane onokushintshashintsha kwezakhi zofuzo kwenye i-chromosome eyodwa ye-X uzoba yithwala yalesi sifo. Okushiwo yilokho, ukuthi okuvela embonweni wesibalo, amaphesenti angu-50 emadodaneni akhe azozuza i-mutation futhi ahlakulele lesi sifo, kanti amaphesenti angu-50 emadodakazi akhe ayozuza i-mutation futhi abe yithwala.
Izinkinga ezixhunywe yi-Y
Ngoba amadoda kuphela ane-Y chromosome, abesilisa kuphela abangathinteka futhi badlulise izifo ezixhunyaniswe yi-Y. Wonke amadodana omuntu one-Y-disorder disorder azozuza ifa elivela kubaba.
Ukuphazamiseka Kwe-Autosomal Recessive
Njengoba kunezifo ezibucayi ngokuzenzekelayo, lo muntu udinga amakhophi amabili wegesi eliguquguqukayo-elilodwa kumzali ngamunye-ukuba ne-disorder.
Umuntu onokwakho kuphela uzoba othwali. Abathwali ngeke baphazamiseke nakancane ukuguqulwa noma babe nezibonakaliso noma izimpawu zesifo. Kodwa-ke, bangadlulisa ukuguqulwa kwezingane zabo.
Uma bobabili abazali bephethe ukuguqulwa kwe-disosomal disorder of disorder, izinkinga zezingane zabo ezinezifo zifana nalokhu:
- Ingozi engamaphesenti angu-25 yokuzuza iinguquko zombili nokuguquka kwesifo
- Ingozi yamaphesenti angu-50 yokuzuza iphiphi eyodwa kuphela futhi ibe yithwala
- Ingozi engamaphesenti angama-25 okungazuli ifa lokushintshwa nhlobo
Ngaphezu kwalokho, ingane ngayinye izoba nethuba elifanayo lokuthola ifa lesandulela ngculazi.
Ukukhathazeka Okumangalisayo Kwe-Autosomal
Ezingxenyeni ezidumile ze-autosomal, umuntu udinga kuphela ikhophi eyodwa yegeneshi eguquliwe ukuba ibe nesimo. Abesilisa nabesifazane bangase baphathwe ngendlela efanayo. Ngaphezu kwalokho, izingane zomuntu one-disosomal disorder eyinhloko zinengozi engamaphesenti angu-50 okuzuza i-disorder, futhi.
> Umthombo:
> I-Library National yaseMelika Yezokwelapha: Izikhungo Zikazwelonke Zempilo. "Uma i-genetic disorder igijima emndenini wami, yiziphi amathuba ukuthi izingane zami zibe nesimo?" I-Genetics Home Reference. I-Bethesda, e-Maryland; ibuyekezwe ngoNovemba 7, 2017.