Wibande ku gusuzuma genetike yerekana ubumuga bwo kutumva kugirango wirinde ubumuga bwo kutumva

Amatwi ni reseptor yingenzi mumubiri wumuntu, igira uruhare mukugumya kumva no kuringaniza umubiri.Ubumuga bwo kutumva bivuga ibinyabuzima cyangwa imikorere idasanzwe yo kwanduza amajwi, amajwi yumvikanisha, hamwe n’ibigo byumva mu nzego zose muri sisitemu yo kwumva, bikavamo uburyo butandukanye bwo kutumva.Nk’uko imibare ifatika ibigaragaza, mu Bushinwa hari abantu bagera kuri miliyoni 27.8 bafite ubumuga bwo kutumva no kutavuga, muri bo hakaba harimo impinja n’itsinda ry’abarwayi, kandi nibura abana 20.000 bavuka bafite ubumuga bwo kutumva buri mwaka.

Ubwana ni igihe gikomeye cyo kumva no gukura kwabana.Niba bigoye kwakira ibimenyetso bikungahaye byamajwi muriki gihe, bizaganisha kumajyambere atuzuye kandi bibe bibi kumikurire myiza yabana.

1. Akamaro ko gusuzuma geneti kubatumva

Kugeza ubu, kutumva ni inenge isanzwe ivuka, iza ku mwanya wa mbere mu bumuga butanu (kutumva neza, kutabona neza, ubumuga bw'umubiri, ubumuga bwo mu mutwe, n'ubumuga bwo mu mutwe).Dukurikije imibare ituzuye, mu Bushinwa hari abana batumva bagera kuri 2 kugeza kuri 3 mu bana bavutse 1.000, kandi umubare w'abana batavuka ni 2 kugeza kuri 3%, ibyo bikaba birenze cyane indwara z’izindi ndwara zikivuka.Hafi ya 60% yo kutumva iterwa na genes yo kutumva, kandi ihinduka ryimiterere yabatumva iboneka kuri 70-80% byabarwayi bafite ubumuga bwo kutumva.

Kubwibyo, geneti yo gusuzuma ibipfamatwi ishyirwa muri gahunda yo gusuzuma mbere yo kubyara.Kwirinda mbere na mbere kutumva kuragwa bishobora kugerwaho mugupima mbere yo kubyara genes zitumva ku bagore batwite.Kubera ko umuvuduko mwinshi wabatwara (6%) wihindagurika ryimiterere yabatumva mubushinwa, abashakanye bakiri bato bagomba gusuzuma gene yabatumva mugupima ishyingiranwa cyangwa mbere yo kubyara kugirango bamenye abantu bumva ubumuga bwo kutumva hakiri kare kandi bombi batwara kimwe. abatumva mutation gene couple.Abashakanye bafite mutation gene barashobora kwirinda neza kutumva binyuze mugukurikirana ubuyobozi no gutabara.

2. Kugenzura genetike ni iki cyo kutumva

Kwipimisha genetike kubipfamatwi ni ikizamini cya ADN yumuntu kugirango umenye niba hari gene yo kutumva.Niba hari abanyamuryango bitwaje genes zo kutumva mumuryango, harashobora gufatwa ingamba zimwe na zimwe kugirango hirindwe kuvuka kwabana batumva cyangwa kwirinda ko habaho ubumuga bwo kutumva ku bana bavutse ukurikije ubwoko butandukanye bwubwoko bwabatumva.

3. Abaturage bakoreshwa mugupima ibipfamatwi

-Gutwita mbere no gutwita hakiri kare
-Abana bavutse
-Abarwayi batumva n'abagize umuryango wabo, abarwayi babaga cochlear
-Abakoresha ibiyobyabwenge bya ototoxique (cyane cyane aminoglycoside) nabafite amateka yubumuga bwo kutumva bwimiryango.

4. Ibisubizo

Macro & Micro-Ikizamini cyateje imbere amavuriro yose (Wes-Plus detection).Ugereranije nuburyo gakondo bukurikirana, exome ikurikiranye igabanya cyane ikiguzi mugihe ubona amakuru yihuse ya uturere twose.Ugereranije na genome yose uko yakabaye, irashobora kugabanya ukwezi no kugabanya umubare wisesengura ryamakuru.Ubu buryo buhenze kandi burakoreshwa muri iki gihe kugirango bugaragaze impamvu zitera indwara.

Ibyiza

-Kumenya neza: Ikizamini kimwe icyarimwe cyerekana genes 20.000+ za kirimbuzi zabantu hamwe na genoside ya mitochondrial, zirimo indwara zirenga 6.000 mububiko bwa OMIM, harimo SNV, CNV, UPD, ihindagurika ryimiterere, ingirabuzimafatizo, imiterere ya genoside ya mitochondial, kwandika HLA nubundi buryo.
-Ubusobanuro buhanitse: ibisubizo ni ukuri kandi byizewe, kandi ahantu hagaragara harenga 99.7%
-Ibyoroshye: gutahura no gusesengura byikora, kubona raporo muminsi 25