Indlebe yi-receptor ebalulekileyo emzimbeni womntu, edlala indima ekugcineni ingqiqo yokuva kunye nokulinganisela komzimba. Ukuphazamiseka kokuva kubhekisa kwimikhwa engaqhelekanga okanye esebenzayo yokudluliselwa kwesandi, izandi zeemvakalelo, kunye namaziko okuva kuwo onke amanqanaba kwinkqubo yokuva, nto leyo ekhokelela kumanqanaba ahlukeneyo okulahlekelwa kukuva.Ngokwedatha efanelekileyo, kukho abantu abamalunga nezigidi ezingama-27.8 abanengxaki yokuva nolwimi eTshayina, phakathi kwabo iintsana ezisandul’ ukuzalwa zezona ziphambili kwizigulane, kwaye ubuncinane iintsana ezingama-20,000 zinengxaki yokuva minyaka le.
Ubuntwana lixesha elibalulekileyo ekuphuhlisweni kokuva nokuthetha kwabantwana. Ukuba kunzima ukufumana isandi esityebileyo ngeli xesha, oko kuya kukhokelela ekuphuhlisweni kwentetho okungaphelelanga kwaye kube nefuthe elibi ekukhuleni kakuhle kwabantwana.
1. Ukubaluleka kokuhlolwa kwemfuza kubantu abangevayo
Okwangoku, ukulahlekelwa kukuva sisifo esiqhelekileyo sokuzalwa, sibekwe kwindawo yokuqala phakathi kwezi zifo zintlanu (ukukhubazeka kokuva, ukuphazamiseka kokubona, ukukhubazeka komzimba, ukukhubazeka kwengqondo, kunye nokukhubazeka kwengqondo). Ngokwezibalo ezingaphelelanga, kukho malunga nabantwana aba-2 ukuya kwaba-3 abangevayo kwiintsana ezisandul’ ukuzalwa ezili-1,000 eTshayina, kwaye ukwenzeka kokulahlekelwa kukuva kwiintsana ezisandul’ ukuzalwa yi-2 ukuya kwi-3%, nto leyo ephezulu kakhulu kunezinye izifo kwiintsana ezisandul’ ukuzalwa. Malunga ne-60% yokulahlekelwa kukuva kubangelwa zizifo zemfuza, kwaye utshintsho lwemfuza yemfuza yemfuza lufumaneka kwi-70-80% yezigulane ezinesifo semfuza.
Ngoko ke, uhlolo lwemfuza lokungeva lubandakanyiwe kwiinkqubo zohlolo lwangaphambi kokukhulelwa. Ukuthintela okuphambili kokungeva okuzuzwe njengelifa kunokufezekiswa ngokuhlolwa kwemfuza yokungeva ngaphambi kokukhulelwa kwabasetyhini abakhulelweyo. Ekubeni izinga eliphezulu labathwali (6%) lotshintsho oluqhelekileyo lwemfuza yokungeva ngesiTshayina, izibini eziselula kufuneka zihlole imfuza yokungeva xa kujongwa umtshato okanye ngaphambi kokuzalwa ukuze kufunyanwe abantu abanengxaki yokungeva ababangelwa ngamayeza kwangethuba kunye nabo bobabini abathwali bemfuza efanayo yokungeva. Izibini ezinee-mutation gene carriers zinokuthintela ngempumelelo ukungeva ngokusebenzisa isikhokelo sokulandela kunye nokungenelela.
2. Yintoni uvavanyo lwemfuza lokungeva
Uvavanyo lwemfuza lokuva ubuthulu luvavanyo lwe-DNA yomntu ukuze kufunyaniswe ukuba kukho i-gene yokuva ubuthulu. Ukuba kukho amalungu ane-gene yokuva ebuthulu kusapho, amanyathelo athile afanelekileyo anokuthathwa ukuthintela ukuzalwa kweentsana ezingevayo okanye ukuthintela ukwenzeka kobuthulu kwiintsana ezisandul’ ukuzalwa ngokweentlobo ezahlukeneyo ze-gene yokuva.
3. Abemi abafanelekileyo kuvavanyo lwemfuza lokungeva
-Izibini ezikhulelweyo ngaphambi kokukhulelwa kunye nokukhulelwa kwangethuba
-Iintsana ezisandul' ukuzalwa
-Izigulane ezingevayo kunye namalungu eentsapho zazo, izigulane ezityandwayo zokufakelwa i-cochlear
-Abasebenzisi beziyobisi ezinobungozi (ingakumbi ii-aminoglycosides) kunye nabo banembali yokungaziva kakuhle ngenxa yeziyobisi kusapho lwabo
4. Izisombululo
I-Macro kunye ne-Micro-Test ziphuhlise i-clinical whole exome (ukufunyanwa kwe-Wes-Plus). Xa kuthelekiswa nokulandelelana kwendabuko, ukulandelana kwe-whole exome kunciphisa kakhulu iindleko ngelixa kufunyanwa ngokukhawuleza ulwazi lwezakhi zofuzo lwazo zonke iindawo ze-exonic. Xa kuthelekiswa nokulandelelana kwe-genome epheleleyo, inokufinyeza umjikelo kwaye inciphise ubungakanani bohlalutyo lwedatha. Le ndlela ingabizi kakhulu kwaye isetyenziswa kakhulu namhlanje ukutyhila izizathu zezifo zezakhi zofuzo.
Iingenelo
-Ukufumanisa okubanzi: Uvavanyo olunye ngaxeshanye luhlola ii-genes zenyukliya zabantu ezingaphezu kwama-20,000 kunye nee-genomes ze-mitochondrial, ezibandakanya izifo ezingaphezu kwama-6,000 kwisiseko sedatha se-OMIM, kubandakanya i-SNV, i-CNV, i-UPD, utshintsho oluguquguqukayo, ii-genes ze-fusion, ukwahluka kwe-genome ye-mitochondrial, i-HLA typing kunye nezinye iindlela.
-Ukuchaneka okuphezulu: iziphumo zichanekile kwaye zithembekile, kwaye indawo yokubhaqwa ingaphezulu kwe-99.7%
-Kulula: ukufumanisa nokuhlaziya ngokuzenzekelayo, fumana iingxelo kwiintsuku ezingama-25
Ixesha lokuthumela: Matshi-03-2023