Indlebe yinto ebalulekileyo ye-receptor kumzimba womntu, odlala indima ekugcineni ingqiqo yokuva kunye nokulinganisela komzimba. Ukungeva kakuhle kubhekiselele kwizinto ezingaqhelekanga okanye ezingaqhelekanga zokuhanjiswa kwesandi, izandi zokuva, kunye namaziko okuva kuwo onke amanqanaba kwinkqubo yokuva, okukhokelela kumanqanaba ahlukeneyo okulahleka kweendlebe.Ngokweenkcukacha ezifanelekileyo, baphantse babe zizigidi ezingama-27.8 abantu abangeva kakuhle kunye nolwimi eTshayina, phakathi kwabo abantwana abasandul’ ukuzalwa liqela eliphambili lezigulana, kwaye ubuncinane abangama-20,000 abasandul’ ukuzalwa banengxaki yokungeva kakuhle minyaka le.
Ubuntwana lixesha elibalulekileyo kuphuhliso lokuva nokuthetha kwabantwana. Ukuba kunzima ukufumana imiqondiso yesandi esityebileyo ngeli xesha, oko kuya kukhokelela ekuphuhlisweni kwentetho okungaphelelanga kwaye kube kubi ekukhuleni okunempilo kwabantwana.
1. Ukubaluleka kokuhlolwa kofuzo kwizithulu
Okwangoku, ukungeva kusisiphene esiqhelekileyo sokuzalwa, sibekwe kwindawo yokuqala phakathi kwezintlanu zokukhubazeka (ukungeva kakuhle, ukungaboni kakuhle, ukukhubazeka ngokomzimba, ukukhubazeka kwengqondo, kunye nokukhubazeka kwengqondo). Ngokwezibalo ezingaphelelanga, kukho malunga ne-2 ukuya kwi-3 yabantwana abangevayo kwi-1,000 yonke intsana esanda kuzalwa e-China, kwaye iziganeko zokungeva kwiintsana zi-2 ukuya kwi-3%, ephezulu kakhulu kunezinye izifo kwiintsana ezisanda kuzalwa. Ngokumalunga ne-60% yokulahlekelwa kwindlebe kubangelwa yimfuza yokungeva, kwaye ukuguqulwa kofuzo lwesithulu kufumaneka kwi-70-80% yezigulane ezingevayo.
Ke ngoko, ukuhlolwa kofuzo kwizithulu kubandakanyiwe kwiinkqubo zokuhlolwa kwangaphambi kokubeleka. Uthintelo olusisiseko lobuthulu oluzuzwa lufuzo lunokuphunyezwa ngokuhlolwa kwangaphambili kofuzo lwesithulu kwabasetyhini abakhulelweyo. Ukusukela ukuba izinga eliphezulu lokuthwala (6%) loguquko oluqhelekileyo lwemfuza yesithulu kwisiTshayina, izibini eziselula kufuneka zihlole imfuza yobuthulu kuvavanyo lomtshato okanye phambi kokubeleka ukuze kubonwe abantu abangevayo ngenxa yeziyobisi kwangethuba kunye nabo bobabini bathwali bofuzo lwesithulu sotshintsho lwesibini. Amaqabane ane-mutation gene carriers anokuthintela ngokufanelekileyo ukungeva ngokulandela isikhokelo kunye nokungenelela.
2. Yintoni inkqubo yofuzo yokuhlola ubuthulu
Uvavanyo lwemfuzo lokungeva luvavanyo lweDNA yomntu ukuze kufunyaniswe ukuba kukho imfuza yobuthulu. Ukuba kukho amalungu aphethe imfuza yobuthulu kusapho, amanye amanyathelo ahambelanayo anokuthathwa ukuze kuthintelwe ukuzalwa kwabantwana abangevayo okanye kuthintelwe ukwenzeka kobuthulu kwiintsana ezisandul’ ukuzalwa ngokohlobo olwahlukileyo lwemfuza yezithulu.
3. Abemi abasebenzayo kuvavanyo lwemfuza yobuthulu
-Pre-pregnancy kunye nokukhulelwa kwasekuqaleni izibini
-Iintsana ezisanda kuzalwa
-Izigulane ezingevayo kunye namalungu entsapho zabo, izigulane zotyando lokufakelwa kwe-cochlear
-Abasebenzisi beziyobisi ze-ototoxic (ingakumbi i-aminoglycosides) kunye nabo banembali yokungeva okubangelwa yiziyobisi.
4. Izisombululo
UVavanyo lweMacro kunye noLuhlu oluncinci luphuhlise i-exome yekliniki yonke (ubhaqo lwe-Wes-Plus). Xa kuthelekiswa nolandelelwano lwemveli, ulandelelwano lwe-exome epheleleyo lunciphisa kakhulu iindleko ngelixa lufumana ngokukhawuleza ulwazi lwemfuzo kuyo yonke imimandla yangaphandle. Xa kuthelekiswa nokulandelelana kwe-genome yonke, inokunciphisa umjikelo kunye nokunciphisa inani lokuhlalutya idatha. Le ndlela yonga imali kwaye isetyenziswa ngokuqhelekileyo namhlanje ukutyhila oonobangela bezifo zemfuza.
Iingenelo
-Ukubonwa okubanzi: Uvavanyo olunye ngaxeshanye lubonisa i-20,000+ i-genes ye-nyukliya yabantu kunye ne-mitochondrial genomes, ebandakanya izifo ezingaphezu kwe-6,000 kwi-OMIM yedatha, kuquka i-SNV, i-CNV, i-UPD, iinguqu eziguquguqukayo, i-fusion genomes, i-mitochondrial genome variations, i-HLA typing kunye nezinye iifom.
-Ukuchaneka okuphezulu: iziphumo zichanekile kwaye zithembekile, kwaye indawo yokufumanisa indawo ingaphezulu kwe-99.7%
-Elula: ukufumanisa ngokuzenzekelayo kunye nohlalutyo, fumana iingxelo kwiintsuku ze-25
Ixesha lokuposa: Mar-03-2023