Indlebe ingumkhonto obalulekile emzimbeni womuntu, odlala indima ekulondolozeni umqondo wokuzwa nokulinganisela komzimba. Ukulimala kokuzwa kubhekisele ekuhanjisweni kwe-organic noma okusebenzayo kokuhanjiswa okuzwakalayo, imisindo yokuzwakala, kanye nezikhungo zokuzwakala kuwo wonke amazinga ohlelweni lokuzwa, okuholela ekulahlekelweni kwezizwe.Ngokusho kwemininingwane efanelekile, cishe zingabalelwa ezigidini ezingama-27.8 abantu abanokulimazeka nokulahlwa kwezilimi eChina, phakathi kwazo izingane ezisanda kuzalwa zeqembu leziguli, futhi okungenani izingane ezingama-20,000 zihlushwa ukungalimazi okuzwayo njalo ngonyaka.
Ubuntwana yisikhathi esibucayi sokuzwa kwezingane nokukhuluma. Uma kunzima ukuthola amasiginali womsindo acebile ngalesi sikhathi, kuzoholela ekuthuthukisweni kwenkulumo engaphelele futhi kube yinto engemihle ekukhuleni kahle kwezingane.
1. Ukubaluleka kokuhlolwa kofuzo kwezakhi zofuzo
Njengamanje, ukulahlekelwa kwezindlebe kuyisici esivamile sokuzalwa, ukubekwa kuqala phakathi kokukhubazeka okuhlanu (ukulimazeka okuzwakalayo, ukonakala okubonakalayo, ukukhubazeka ngokomzimba, nokukhubazeka kwengqondo). Ngokusho kwezibalo ezingaphelele, kunezingane ezingaba ngu-2 kuya kwayi-3 ezisanda kuzalwa eChina, futhi izehlakalo zokulahleka kwezindlebe ezisanda kuzalwa ziye ezisanda kuzalwa ziye kunezifo ezisanda kuzalwa. Cishe ama-60% okulahleka kwezindlebe kubangelwa ukufunwa izakhi zofuzo eziyize, kanye nezithulu zofuzo ezifuywayo zitholakala ngo-70-80% weziguli eziyizindlebe eziyize.
Ngakho-ke, ukuhlolwa kofuzo ukuze izithulu zifakiwe ezinhlelweni zokuhlola okubekiwe. Ukuvimbela okuyisisekelo kwezithulu ze-Heredity kungabonakala ngokuhlolwa kokubeletha kwezakhi zofuzo zezithulu kwabesifazane abakhulelwe. Kusukela inani eliphakeme le-Carriers (6%) lokuguqulwa kofuzo okujwayelekile kwezithunywa zesi-Chinese, imibhangqwana emisha kufanele ihlole uhlobo lwezithulu ekuhlolweni komshado noma ngaphambi kokuthola abantu ababucayi bezithulu ngaphambi kwesikhathi nalabo bobabili abathwali izithandani zofuzo gene. Imibhangqwana enabathwali bezakhi zofuzo abaguqukayo ingavimba izithulu ngempumelelo ngesiqondiso sokulandela nokungenelela.
2. Kuyini ukuhlolwa kofuzo
Ukuhlolwa kwezakhi zofuzo ukuze izithulu kuvivinya i-DNA yomuntu ukuthola ukuthi ngabe kukhona uhlobo lokungezwa. Uma kunamalungu aphatha izinhlobo zofuzo ezingezithulu emndenini, ezinye izindlela ezihambisanayo zingathathwa ukuvikela ukuzalwa kwezingane eziyizithulu noma kuvikele ukwenzeka kwezithulu ezinganeni ezisanda kuzalwa ngohlobo lwezinsana ezisanda kuzalwa.
3. Inani labantu abasebenzayo bokuhlolwa kofuzo lwezithulu
-Sikhulelwa - Imibhangqwana Yokukhulelwa Kwasekuqaleni
-Izingane
Iziguli -Deaf kanye namalungu emindeni yawo, iziguli ezihlinzayo ze-cochlear
-I -users yezidakamizwa ze-ototoxic (ikakhulukazi ama-aminoglycosides) nalabo abanomlando wokuba yisithulu esibangelwa izidakamizwa somndeni
4. Izisombululo
I-Macro & Micro-Test yathuthukisa ukutholakala komtholampilo okucwebezelayo (ukutholwa kwe-WES-PLUS). Uma kuqhathaniswa nokulandelana kwendabuko, ukulandelana okuphelele okuphelele kunciphisa kakhulu izindleko ngenkathi uthola ngokushesha ukuthola imininingwane yofuzo yazo zonke izifunda ze-Exec. Uma kuqhathaniswa nokulandelana kona konke, kunganciphisa umjikelezo futhi kunciphise inani lokuhlaziywa kwedatha. Le ndlela iyabiza futhi isetshenziswa kakhulu namuhla ukwembula izimbangela zezifo zofuzo.
Izinzuzo
Ukutholwa kokutholwa: Ukuhlolwa okukodwa ngasikhathi sinye izikrini izinhlobo zofuzo ezingama-20,000 + zomuntu zenuzi kanye ne-mitochondrial genomes, kufaka phakathi izifo ezingaba ngu-6,000, i-CNV, ukuguquguquka kwe-DYV, i-Fitochondrial Genes, ukushintshana kwe-mitochondrial namanye amafomu.
Ukunemba kwe -High: Imiphumela inembile futhi ithembekile, futhi ukumbozwa kwendawo yokutholwa kungaphezulu kwama-99.7%
-Nome: Ukutholwa okuzenzakalelayo nokuhlaziywa, thola imibiko ngezinsuku ezingama-25
Isikhathi sePosi: Mar-03-2023