Indlebe iyisamukeli esibalulekile emzimbeni womuntu, esidlala indima ekugcineni umuzwa wokuzwa kanye nokulinganisela komzimba. Ukukhubazeka kokuzwa kubhekisela ekungajwayelekile kwemvelo noma kokusebenza kokudluliselwa komsindo, imisindo yezinzwa, kanye nezikhungo zokuzwa kuzo zonke izigaba ohlelweni lokuzwa, okuholela emazingeni ahlukahlukene okulahlekelwa ukuzwa.Ngokusho kwedatha efanele, kunabantu abacishe babe yizigidi ezingu-27.8 abanokukhubazeka kokuzwa nolimi eShayina, phakathi kwabo izinsana ezisanda kuzalwa ziyiqembu eliyinhloko leziguli, kanti okungenani izinsana ezisanda kuzalwa ezingu-20,000 zihlushwa ukukhubazeka kokuzwa minyaka yonke.
Ubuntwana buyisikhathi esibalulekile ekukhuleni kokuzwa nokukhuluma kwezingane. Uma kunzima ukuthola imisindo ecebile phakathi nalesi sikhathi, kuzoholela ekukhuleni kwenkulumo okungaphelele futhi kube yinto embi ekukhuleni okunempilo kwezingane.
1. Ukubaluleka kokuhlolwa kwezakhi zofuzo kwabangezwa
Njengamanje, ukulahlekelwa ukuzwa kuyisici esivamile sokuzalwa, esibekwa phambili phakathi kokukhubazeka okuhlanu (ukukhubazeka kokuzwa, ukukhubazeka kokubona, ukukhubazeka ngokomzimba, ukukhubazeka kwengqondo, kanye nokukhubazeka kwengqondo). Ngokwezibalo ezingaphelele, kunezingane ezingaba ngu-2 kuya ku-3 eziyizithulu kuzo zonke izingane ezisanda kuzalwa eziyi-1,000 eShayina, futhi izinga lokulahlekelwa ukuzwa ezinsaneni ezisanda kuzalwa lingu-2 kuya ku-3%, okuphakeme kakhulu kunezinga lezinye izifo ezinsaneni ezisanda kuzalwa. Cishe u-60% wokulahlekelwa ukuzwa ubangelwa izakhi zofuzo zokungezwa ezizuzwe njengefa, kanti ukuguquka kwezakhi zofuzo zokungezwa kutholakala ku-70-80% weziguli eziyizithulu ezizuzwe njengefa.
Ngakho-ke, ukuhlolwa kwezakhi zofuzo kobuthulu kufakiwe ezinhlelweni zokuhlolwa kwangaphambi kokubeletha. Ukuvimbela okuyinhloko kokubuthulu okuzuzwe njengefa kungenziwa ngokuhlolwa kwangaphambi kokubeletha kwezakhi zofuzo zokungezwa kwabesifazane abakhulelwe. Njengoba izinga eliphezulu labathwali (6%) lokuguqulwa kwezakhi zofuzo ezivamile zokungezwa ngesiShayina, imibhangqwana esemisha kufanele ihlole izakhi zofuzo zokungezwa ekuhlolweni komshado noma ngaphambi kokubeletha ukuze ithole abantu abazwela kakhulu ezidakamizweni kanye nalabo bobabili abathwali bombhangqwana ofanayo wezakhi zofuzo zokuguqulwa kwezinzwa. Imibhangqwana enezakhi zofuzo zokuguqulwa ingavimbela ngempumelelo ukubuthulu ngokuqondiswa okulandelayo kanye nokungenelela.
2. Kuyini ukuhlolwa kofuzo kokungezwa
Ukuhlolwa kwezakhi zofuzo kobuthulu kuwukuhlolwa kwe-DNA yomuntu ukuthola ukuthi ikhona yini i-gene yobuthulu. Uma kukhona amalungu aphethe izakhi zofuzo zobuthulu emndenini, kungathathwa izinyathelo ezifanayo ukuvimbela ukuzalwa kwezingane eziyizithulu noma ukuvimbela ukwenzeka kobuthulu ezinganeni ezisanda kuzalwa ngokwezinhlobo ezahlukene zezakhi zofuzo zobuthulu.
3. Inani labantu abafanelekile ekuhlolweni kwezakhi zofuzo zezithulu
-Imibhangqwana yangaphambi kokukhulelwa kanye nokukhulelwa kwasekuqaleni
-Izingane ezisanda kuzalwa
-Iziguli ezingezwa kanye namalungu emindeni yazo, iziguli ezihlinzwa nge-cochlear implant
-Abasebenzisa izidakamizwa ezibulala amagciwane (ikakhulukazi ama-aminoglycoside) kanye nalabo abanomlando wokungezwani komndeni okubangelwa izidakamizwa
4. Izixazululo
I-Macro & Micro-Test ithuthukise i-clinical whole exome (ukutholwa kwe-Wes-Plus). Uma kuqhathaniswa nokulandelana kwendabuko, ukulandelana kwe-whole exome kunciphisa kakhulu izindleko ngenkathi kutholwa ngokushesha ulwazi lwezakhi zofuzo lwazo zonke izifunda ze-exonic. Uma kuqhathaniswa nokulandelana kwe-genome yonke, ingafinyeza umjikelezo futhi inciphise inani lokuhlaziywa kwedatha. Le ndlela ingabizi kakhulu futhi isetshenziswa kakhulu namuhla ukwembula izimbangela zezifo zezakhi zofuzo.
Izinzuzo
-Ukutholwa okuphelele: Ukuhlolwa okukodwa ngesikhathi esisodwa kuhlola izakhi zofuzo zabantu zenyukliya ezingaphezu kuka-20,000 kanye nezakhi zofuzo ze-mitochondrial, okubandakanya izifo ezingaphezu kuka-6,000 kudathabheyisi ye-OMIM, okuhlanganisa i-SNV, i-CNV, i-UPD, ukuguqulwa okuguquguqukayo, izakhi zofuzo ezihlanganisiwe, ukuhlukahluka kwezakhi zofuzo ze-mitochondrial, ukuthayipha kwe-HLA nezinye izinhlobo.
-Ukunemba okuphezulu: imiphumela inembile futhi ithembekile, kanti indawo yokuthola indawo ingaphezu kuka-99.7%
-Kulula: ukutholwa nokuhlaziywa okuzenzakalelayo, thola imibiko ezinsukwini ezingama-25
Isikhathi sokuthunyelwe: Mashi-03-2023