Indlela i-CF Gene Defect isetshenziswa ngayo emindenini
Ungamangala lapho uzwa ukuthi i- cystic fibrosis (CF) ayiyona isifo esingavamile. Ukuthinta abantu abangaba ngu-30 000 e-United States kanye nabantu abayi-100,000 emhlabeni wonke, yisifo esivame ukuzuza ngokweqile se-autosomal phakathi kwamaCaucasus. Lesi sifo senziwa nakwezinye izinhlanga, kodwa kaningi kakhulu.
I-fibrosis ye-cystic ibangelwa isici emthonjeni we- cystic fibrosis transmembrane regulator (CFTR).
Kunezinguquko ezingaphezu kwezingu-1200 eziwaziwayo zegciwane le-CFTR ezingabangela i-cystic fibrosis. Indlela le-CFTR yegciwane lesandulela ngculazi idluliselwa kubazali kuya ezinganeni incike ezintweni ezimbalwa.
I-Autosomal I-Recossive ne-Non-Sex-Linked
Bonke abantu banezinhlangothi ezingu-22 zama-chromosome ezingaxhunyiwe ngokocansi kanye nama-chromosomes amabili axhumene ngokocansi. Amapulangwe angu-22 angewona ocansi ahlobene nocansi abizwa ngokuthi ama-chromosomes autosomal. Isakhi esingenaphutha ku-cystic fibrosis (i-CFTR gene) senzeke kuma-chromosomes amabili we-7. Njengoba kwenzeka kwelinye lama-chromosomes amabili angu-22 yokuqala, iphutha le-cystic fibrosis liyi-autosomal. Akukona ukuxilongwa ngokocansi, ngakho-ke lesi sifo asizange sidluliselwe ngumama noma ubaba kuphela futhi singabonakala ngobulili.
Ukuqabuleka kusho ukuthi ama-chromosomes womabili kufanele abe nenkinga ukuze abe nesifo-bobabili abazali kufanele babe yizinsalela zegciwane lomntwana ukuba abe neCF. Uma umuntu ene-chromosome eyodwa engalungile, yena uzoba othwala kodwa ngeke empeleni abe nesifo.
Ingane Ingayithola Kanjani I-CF Uma Akekho Omunye Emkhayeni Onayo?
Njengoba i-CF iyimfanelo ehlukumezayo, ingane kufanele ithole izakhi zofuzo ezingenalutho ukuze zizalwe nesifo. Njengazo zonke izinhlangothi zomculo we-chromosome, omunye uzuzwa njengefa futhi unelungelo elizuzwa ngubaba. Lokhu kusho ukuthi bobabili abazali kumele baphathe umkhuba we-cystic fibrosis noma babe ne-CF ngokwabo ukuze babe nengane ne-CF.
Abantu abathwali banesisindo esisodwa esingalungile. Ngeke abe ne-CF futhi ngeke abe nezimpawu. Cishe 4% kubo bonke abaseCaucasus yizinkampani zeCF.
Uma bobabili abazali bephethe izakhi zegciwane le-CFTR, khona-ke kunethuba elingama-25% lokuthi ingane yabo izoba ne-CF noma ithuba elingama-50% lokuthi umntwana uzoba ngumthwali wegesi kodwa angenaso isifo futhi amathuba angama-25% ingane ngeke ibe yinkampani yenethiwekhi.
Kungenzeka kube nezizukulwane eziningi zabathwali emndenini ngaphandle komuntu owake waba nesifo. Ngokuvamile, abantu abazi ukuthi bangabathwali kuze kube yilapho ingane yabo izalwa neCF. Ukuvivinya ngezifo kuyatholakala ukuze kunqume ukuthi umuntu uphethe ukukhubazeka kwe-CF, kodwa ngokuvamile akwenziwanga ngaphandle kokuba umbhangqwana unesizathu sokusola ukuthi bangabathwali.
Eqinisweni, bobabili izingane kanye nabantu abadala bangavivinywa isakhi se-CF esakhiwe nge-swab yomlomo noma isampula yegazi ukuze babone ukuthi bayithwala yini. Nakuba ukuhlolwa kwezinkampani ezihamba phambili kunembile kakhulu, ezinye izinguquko azitholakali-ngakho-ke umuntu ohlola okungalungile ngokuguquguquka kwe-CF kungenzeka empeleni abe othwali.
Imithombo:
UBoyle, MP, MD. "I-Adult Cystic Fibrosis." I- Journal of the American Medical Association. 2007 298: 1787-1793.
I-Genetics ye-Cystic Fibrosis. I-University of Virginia Health System. NgoNovemba 7, 2005.