Ukubunjwa, Isayensi
Indlela yokuzalwa. Isifundo Tari_pedigree
Tari_pedigree yophononongo olwenziwe ngumntu ukususela kumaxesha amandulo. Kuhlalutyo Kwiinkulungwane 18-19 kwezimilo kwabantu (isifo) oko waqalisa ukusetyenziswa ngokubanzi. Ngoko, ndaqalisa ukwenza ngezizukulwane indlela kuphando. Kamva, ukuphucuka lwenzeke umzobo umgca ukuzalwa kunye iinketho zophendlo kukulayinisha uhlalutyo lwamanani lwe data ekhoyo.
Clinico-ngokomlibo ndlela - indlela ukufunda ukuzalwa, ukusetyenziswa leyo yenza kube lula ukufumana ukusasazwa esi sifo entsatsheni okanye usapho xa ucacise uhlobo nomini phakathi kwamalungu azo.
Le nguqulelo lwe sifundo kucingwa ukuba yonke. indlela ngomlibo ezisetyenziswa ekusombululeni iingxaki theoretical component ngokubanzi. Ingakumbi, le indlela esetyenziswayo kuphononongo:
- Ukumisela iinkqubo kweli phawu amafa;
- ukumisela uhlobo ilifa sifo okanye isici;
- Evaluation penetrance (frequency obubonakala) sofuzo;
- ukuhlalutya inkqubo mapping (nokumisela gene kwindawo kuthelekiswa okunye chromosome), kanye zofuzo bamba;
- ubunzulu isifundo inkqubo wezakhi;
- iindlela zokucazulula, olusekelwe phezu impefumlelwano yemfuza.
Xa amayeza mihla, siyazi eziliqela ukungaqheleki yemfuza. Kungenxa yoko le nto inkqubo isifundo bonke abasetyhini abakhulelweyo ukuba ezintandathu izifo njengelifa. Ezi ziquka:
- phenylketonuria;
- Down engqondweni;
- androgenitalny syndrome;
- galactosemia;
- abanesigulo esinganyangekiyo.
indlela ngomlibo nga kwezinye iimeko zibe kuphela indlela apho kunokuthi ukufumanisa uhlobo elifeni sifo entsatsheni, ukuze ufumanise uhlobo ngezifo ukuvavanya ALS sifo, ezohlukileyo uxilongo tirhisa kunye nezinye izifo njengelifa. Ngaphezu koko, ukusetyenziswa ukhetho uphando likuvumela ukuba ukubala amathuba ngokuzalwa abantwana abagulayo, kwakunye namanyathelo khetha eyaneleyo nefanelekileyo ukuze siswini sifo, uthintelo, unyango, kwisimo sangaphambili kunye nokuziqhelanisa.
indlela ngomlibo lubandakanya ukulungiswa kwale Tari_pedigree kunye nokumelwa yayo graphic.
Ekuhambeni ezi misebenzi yenziwa ukuqokelela ulwazi malunga proband (ngamnye, nto leyo ibandakanyeka ekufundeni ingcali) kunye nentsapho yakhe. Njengomgaqo, uphando lwenziwa isigulane okanye yenethiwekhi wafunda mfanelo. Nangona kunjalo, indlela yokuzalwa ukwazi kusetyenziselwa kuphela amayeza.
Ngo isibini abantwana umzali zibizwa ngokuba nabantwana (abazalwana noodade). Ukuba kukho umzali enye kuphela - onesiqingatha-bakowenu. Ukuze ibe consanguineous (nguyise common) okanye zesibeleko (unina jikelele).
Ngokuqhelekileyo, ukusondela Tari_pedigree yenziwa ukuba ukuhlola ezininzi (okanye omnye) kwezifo (iimpawu). Isixa inkcazelo kuxhomekeka kwinani kwizizukulwana ababandakanyekayo kulo (nomnombo).
Ucazululo lwedatha lubonisa ekufumanekeni lweentlobo yelifa akhawunti eziliqela iimpawu.
Umzekelo, kwi autosomal ipateni lubalaseleyo zemibono Upohawu ezichongiweyo kwi Tari_pedigree (phantse kuzo zonke sizukulwana), amakhwenkwe kunye namantombazana rhoqo ngokulinganayo. Kukho iimpawu omnye wabazali kunegalelo yimbonakalo ngayo halftime okanye inzala.
Kwimilibo ebhala isizukulwana ngasinye kufuneka zibekwe radius yayo tyaba okanye. Ababaliweyo kwizizukulwana ikhutshwa phandle baseRoma, kunye namalungu osapho - in Amanani Arabhu.
Ukuba kukho intsapho ukuphazamiseka eziliqela ilifa, phakathi kwabo unbonded kumnombo ngezifo nganye kwenziwa ngokwahlukeneyo.
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