Indlebe iyisamukeli esibalulekile emzimbeni womuntu, esidlala indima ekugcineni izinzwa zokuzwa nokulinganisela komzimba.Ukukhubazeka kokuzwa kubhekisela ekuziphatheni okungavamile noma kokungajwayelekile kokudluliswa komsindo, imisindo yezinzwa, nezikhungo zokuzwa kuwo wonke amazinga ohlelweni lokuzwa, okuholela emazingeni ahlukene okulahlekelwa ukuzwa.Ngokwemininingwane efanele, cishe bayizigidi ezingama-27.8 abantu abanenkinga yokuzwa nolimi eShayina, phakathi kwabo abasanda kuzalwa bayiqembu elikhulu leziguli, futhi okungenani izingane ezisanda kuzalwa ezingu-20,000 zinenkinga yokungezwa minyaka yonke.
Ubuntwana buyinkathi ebalulekile ekukhuleni kwezingane zokuzwa nokukhuluma.Uma kunzima ukuthola izimpawu zomsindo ocebile ngalesi sikhathi, kuzoholela ekukhuleni kwenkulumo okungaphelele futhi kube kubi ekukhuleni okunempilo kwezingane.
1. Ukubaluleka kokuhlolwa kofuzo kubantu abangezwa
Njengamanje, ukulahlekelwa ukuzwa kuyisici esivamile sokuzalwa, okukleliswe kuqala phakathi kokukhubazeka okuhlanu (ukukhubazeka kokuzwa, ukungaboni kahle, ukukhubazeka ngokomzimba, ukukhubazeka kwengqondo, nokukhubazeka kwengqondo).Ngokwezibalo ezingaphelele, cishe zingu-2 kuya ku-3 izingane eziyizithulu kuzo zonke izinsana eziyinkulungwane ezisanda kuzalwa eShayina, kanti izehlakalo zokungezwa ezindlebeni ezisanda kuzalwa zingu-2 kuya ku-3%, okungaphezulu kakhulu kwezezinye izifo ezinganeni ezisanda kuzalwa.Cishe u-60% wokulahlekelwa ukuzwa kubangelwa izakhi zofuzo zokungezwa, futhi ukuguqulwa kofuzo lokungezwa kutholakala ku-70-80% weziguli ezizalwa ngofuzo.
Ngakho-ke, ukuhlolwa kofuzo kokungezwa kufakiwe ezinhlelweni zokuhlolwa ngaphambi kokubeletha.Ukuvimbela okuyinhloko kokungezwa okuzuzwa ngofuzo kungenziwa ngokuhlolwa ngaphambi kokubeletha kwezakhi zofuzo zokungezwa kwabesifazane abakhulelwe.Njengoba izinga eliphezulu lokuthwala (6%) lokuguqulwa kwezakhi zofuzo ezivamile zesithulu ngesiShayina, imibhangqwana esencane kufanele ihlole isakhi sofuzo sokungezwa lapho ihlolwa umshado noma ngaphambi kokubeletha ukuze kusheshe kutholakale abantu abangezwani nokungezwa ngenxa yezidakamizwa kanye nalabo bobabili abangabathwali okufanayo. izithulu mutation gene couple.Izithandani ezinezakhi zofuzo ezithwala izakhi zingavimbela ngempumelelo ubuthulu ngokusebenzisa isiqondiso sokulandelela nokungenelela.
2. Kuyini ukuhlolwa kofuzo kokungezwa
Ukuhlolwa kofuzo lokungezwa kuwukuhlolwa kwe-DNA yomuntu ukuthola ukuthi alukho yini ufuzo lokungezwa.Uma kukhona amalungu aphethe izakhi zofuzo zokungezwa emndenini, ezinye izinyathelo ezihambisanayo zingathathwa ukuze kuvinjelwe ukuzalwa kwezingane eziyizithulu noma ukuvimbela ukwenzeka kokungezwa kwezingane ezisanda kuzalwa ngokwezinhlobo ezahlukene zofuzo zokungezwa.
3. Inani labantu elisebenzayo ekuhlolweni kofuzo lokungezwa
-Imibhangqwana yokukhulelwa ngaphambi kokukhulelwa kanye nokukhulelwa
-Izingane ezisanda kuzalwa
-Iziguli eziyizithulu namalungu emindeni yazo, iziguli ezihlinzwa ngokufakelwa kwe-cochlear
-Abasebenzisi bezidakamizwa ze-ototoxic (ikakhulukazi ama-aminoglycosides) nalabo abanomlando wokungezwani komndeni ngenxa yezidakamizwa.
4. Izixazululo
I-Macro & Micro-Test ithuthukise i-exome yomtholampilo yonke (ukutholwa kwe-Wes-Plus).Uma kuqhathaniswa nokulandelana kwendabuko, ukulandelana okuphelele kwe-exome kunciphisa kakhulu izindleko kuyilapho kutholwa ngokushesha ulwazi lofuzo lwazo zonke izifunda zangaphandle.Uma kuqhathaniswa nokulandelana okuphelele kwe-genome, kunganciphisa umjikelezo futhi kunciphise inani lokuhlaziywa kwedatha.Le ndlela yonga futhi isetshenziswa kakhulu namuhla ukuveza izimbangela zezifo zofuzo.
Izinzuzo
-Ukutholwa okuphelele: Ukuhlola okukodwa kuhlola kanyekanye izakhi zenuzi zabantu ezingu-20,000+ kanye nama-mitochondrial genomes, okuhlanganisa izifo ezingaphezu kuka-6,000 kusizindalwazi se-OMIM, okuhlanganisa i-SNV, CNV, UPD, ukuguqulwa kwe-dynamic, izakhi zofuzo ezihlanganisiwe, ukuhlukahluka kofuzo lwe-mitochondrial, ukuthayipha kwe-HLA nezinye izinhlobo.
-Ukunemba okuphezulu: imiphumela inembile futhi inokwethenjelwa, futhi indawo etholakalayo ingaphezu kwama-99.7%
-Kulula: ukutholwa nokuhlaziya okuzenzakalelayo, thola imibiko ezinsukwini ezingama-25
Isikhathi sokuthumela: Mar-03-2023