Kamoo CF Gene e phethahetseng e fetisetsoang ka malapa
U ka makala ha u utloa hore cystic fibrosis (CF) hase lefu le tloaelehileng. Ho ama batho ba ka bang 30 000 United States le batho ba 100 000 lefatšeng ka bophara, ke eona e tloaelehileng ka ho fetisisa ea li-autosomal tse nang le lefu le futsitsoeng ho batho ba Caucasus. Lefu lena le boetse le hlaha melokong e meng, empa hangata haholo.
Cystic fibrosis e bakoa ke bofokoli bukeng ea cystic fibrosis transmembrane regulator (CFTR).
Ho na le liphetoho tse fetang 1200 tse tsejoang tsa gene ea CFTR e ka etsang cystic fibrosis. Tsela eo CFTR ea lefutso la lefutso le fetisetsoang ho tloha ho batsoali ho ea ho bana e itšetlehile ka lintlha tse 'maloa.
Autosomal e tsitsitseng ebile e sa kopanele liphate
Batho bohle ba na le lihlopha tse 22 tsa li-chromosome tse sa amaneng le thobalano le li-chromosome tse peli tse amanang le thobalano. Lihlopha tse 22 tse sa kopanetsoeng ho kopanela liphate li bitsoa li-chromosome tsa autosomal. Lefu le nang le sekoli cystic fibrosis (CFTR gene) le hlaha likarolong tse peli tsa li-chromosome. Kaha e hlaha ho e 'ngoe ea lihlopha tse 22 tsa pele tsa li-chromosome, bokooa ba cystic fibrosis ke autosomal. Hase ho kopanngoa ka thobalano, kahoo lefu lena ha lea fetisoa ke 'mè kapa ntate feela' me le ka hlaha ka bong kapa bofe.
Ho ikoetlisa ho bolela hore li-chromosome tse peli ka bobeli li lokela ho ba le sekoli e le hore li ka ba le lefu-batsoali bohle ba lokela ho ba lijari tsa lefutso la ngoana hore a be le CF. Haeba motho a e-na le chromosome e le 'ngoe feela e nang le sekoli, e tla ba sesebelisoa empa e ke ke ea e-ba le lefu lena.
Ngoana a ka Lefa CF Haeba ha ho Motho e Mong lelapeng Le Nang le Eona?
Kaha CF ke mokhoa o feteletseng, ngoana o lokela ho amohela liphatsa tsa lefutso tse peli tse fokolang e le hore a hlahe le lefu lena. Joaloka lipale tsohle tsa chromosome, o mong o futsitsoe ho 'm'ae mme o mong o futsitsoe ho ntate. Sena se bolela hore batsoali ba babeli ba lokela ho jara leqheka la cystic fibrosis kapa ba be le CF ka boeona e le hore ba be le lesea le nang le CF.
Batho ba nang le lijari ba na le liphatsa tse le 'ngoe feela tse sa nepahalang. Ba ke ke ba ba le CF mme ba ke ke ba ba le matšoao leha e le afe. Hoo e ka bang 4% ho bohle ba Caucasian ke li-carrier tsa CF.
Haeba batsoali ka bobeli ba tsamaisa liphatsa tsa lefutso tsa CFTR, joale ho na le menyetla ea 25 ea hore lesea la bona le be le CF kapa monyetla oa hore 50% e be mosireletsi oa liphatsa tsa lefutso empa a se na lefu le monyetla oa 25% lesea le ke ke la e-ba mokelikeli ho hang.
Ho ka 'na ha e-ba le meloko e mengata ea bajari malapeng ntle le mang kapa mang ea nang le lefu lena. Hangata, batho ha ba tsebe hore ke bajari ho fihlela masea a bona a hlaha le CF. Ho hlahlojoa ha liphatsa tsa lefutso ho fumaneha ho fumana hore na motho o na le bothata ba CF, empa hangata ha e etsoe ntle le hore banyalani ba be le mabaka a ho belaela hore e ka ba bajari.
Ha e le hantle, bana le batho ba baholo ba ka lekoa bakeng sa CF e fetotsoeng ka motsoako kapa sampuli ea mali ho bona hore na ke bajari. Le hoja ho hlahlojoa ha lifofane ho nepahetse haholo, liphetoho tse ling ha li fumanehe-kahoo motho ea lekang ho senya mofuthu oa phetoho ea CF e ka 'na ea e-ba mosireletsi.
Lisebelisoa:
Boyle, MP, MD. "Motho e moholo oa Cystic Fibrosis." Journal ea American Medical Association. 2007 298: 1787-1793.
Genetics ea Cystic Fibrosis. Lenaneo la Bophelo ba Univesithi ea Virginia. La 7 November, 2005.