U ka fumana joang haeba u na le liphetoho tsa lefutso tse ka lebisang cystic fibrosis (CF) ho ngoana oa hao? Ke hobane'ng ha re sa tsebe kamehla hore na motho o na le phetoho e ka lebisang cystic fibrosis? Hona ke hobane'ng ha ho hlahloba ho theko e boima haholo?
Kakaretso
Ke habohlokoa ho hlakisa hantle hore na tlhahlobo ea liphatsa tsa lefutso ea cystic fibrosis e bolela ho utloisisa lipotso tsena. Re na le liteko tse ka hlalosang cystic fibrosis ho bana, esita le ha ba hlaha , pele matšoao leha e le afe a teng.
Tlhahlobo bakeng sa mmuso oa thepa, leha ho le joalo, e fapane.
Ho hlahlojoa ha liphatsa tsa lefutso bakeng sa liphetoho tsa cystic fibrosis ho kenyelletsa ho leka motho ea se nang letho, 'me a ke ke a hlaolela, liphetoho tsa lefutso tseo a ka fetisetsang bana ho tsona, e leng se ka lebisang cystic fibrosis.
Ho hakanngoa hore United States, batho ba fetang 30 000 ba na le cystic fibrosis 'me batho ba fetang limilione tse 10 ba jara mokhoa oa cystic fibrosis . Motlatsi ha a na lefu lena kapa leha e le efe ea matšoao empa o khona ho fetisetsa CF ho ngoana.
Li-Genetics 101
Liphatsa tsa lefutso ke liphatsa tsa rona tsa lefutso mme li ikarabella ho jara tlhahisoleseling bakeng sa ntho e 'ngoe le e' ngoe ho tloha mmala oa mahlo ho ea ho libopeho tsa li-enzyme tse chekang lijo ka mokhoa oa rona oa lijo. DNA ea rona e entsoe ka li-chromosome tse 46, tse 23 tse tsoang ho bo-'mè ba rona le 23 ho tsoa ho bo-ntat'a rona.
Gene ke karolo e khethollang ea chromosome. Liphatsa tsa rona tsa lefutso le tsona li entsoe ka mefuta e mene ea amino acid, e leng "mangolo" ao, ha a kopantsoe, a bitsa "mantsoe". Phetoho e bua ka tšenyo leha e le efe ea liphatsa tsa lefutso tseo ho tsona mokhoa o tloaelehileng oa mangolo ana o tsoakiloeng.
Ho na le mangolo a haellang, mangolo a ekelitsoeng, kapa a ka hlophisoa ka litsela tse sa tšoaneng.
Ka mantsoe a bonolo, u ka 'na ua nahana ka phetoho ea phetoho e le lentsoe lengolong. Ha lengolo le le sieo kapa le hlophisitsoe hape, lentsoe le fapaneng le ngotsoe. 'Meleng, DNA ea rona e "fetoleloa" ho thehoa ha liprotheine.
Ha liphetoho li fetoha tlhahiso ea protheine e sa tloaelehang, maloetse a kang cystic fibrosis a ka hlahisa.
Genetics & Cystic Fibrosis
Ho hlahlojoa ha motsoako oa cystic fibrosis ho etsoa ho fumana hore na motho o na le, kapa ke moetapele oa cystic fibrosis. Hangata teko e etsoa ka sampuli ea mali, empa ka linako tse ling e ka etsoa ho lisele tse ling tse nang le DNA tse kang swab tse ka hare ho lerama. Sampula e hlahlojoa ka karolo e itseng ea liphetoho tsa motsoako oa cystic fibrosis transmembrane regulator (CFTR) .
E mong le e mong o na le likopi tse peli tsa liphatsa tsa CFTR lisele tsohle tsa tsona. Haeba kopi e le ' ngoe, eo hape e tsejoang e le allele e fumanoa e e-na le phetoho, motho eo ke moqapi. Haeba likopi tse peli tsa lefutso li fetoha, motho o na le lefu la cystic fibrosis.
E le hore ngoana a hlahise cystic fibrosis, ba lokela ho rua liphatsa tsa lefutso tse peli tse fetoletsoeng, e 'ngoe ho' mè oa bona le e mong ho ntat'a bona. Haeba feela 'mè kapa ntate a e-na le liphatsa tsa lefutso, ngoana e ka ba moetapele oa mokhoa oa CF, empa a ke ke a hlaolela cystic fibrosis.
Liphetoho tsa lefutso lefapheng ha li atisa ho ba mofuta o le mong feela. Ho e-na le hoo, ho na le litsela tse fapa-fapaneng tseo liphatsa tsa lefutso li ka bang le tsona ka tsela e sa tloaelehang. Ho na le liphetoho tse fapaneng tse fetang 1 500 tsa CFTR tse tsejoang hore li baka CF, 'me liphetoho tse ncha li fumanoa ha lipatlisiso tsa liphatsa tsa lefutso li tsoela pele.
Ha ho na tlhahlobo ea liteko tsa liphetoho tsohle tse ka khonehang tsa CF, empa ho na le liteko tse 'maloa tse hlahlobang liphetoho tse tloaelehileng tsa CFTR. Litsenyehelo tsa liteko tsa liphatsa tsa lefutso li tsoa liranta tse makholo a seng makae ho ea ho liranta tse likete tse '
Tlhahlobo ea Likokoana-hloko ea Cystic Fibrosis
Tlhahlobo ea liphatsa tsa lefutso tsa cystic fibrosis ka linako tse ling e bitsoa "ACMG / ACOG Mutation Panel" kapa "panel-mutation" e 23, e sheba liphetoho tse tloaelehileng tsa CFTR. Tlhahlobo ena ke hoo e ka bang karolo ea 90 lekholong e sebetsang ho lemoha liphetoho tsa CF ho batho ba Caucasian, empa hoo e ka bang karolo ea 70 lekholong e atleha Afrika Boroa 'me karolo ea 60 lekholong e atleha ho batho ba Manpanishe.
Tlhahlobo e fumaneha haholo libakeng tsa mahae le libaka, empa liphetoho tse tobileng tse hlahlojoang li tla fapana ho latela melao ea laboraka. Li-laborateng tse ling li hlahloba liphetoho tse ling, empa tekanyetso ea motheo e tlameha ho kenyeletsa liphetoho tse 23 tse khothalletsoang ke American College of Medical Genetics (ACMG) le American College ea Litsebi tsa Boipheliso le Gynecologists (ACOG). Litholoana li atisa ho fumaneha matsatsing a seng makae empa li ka nka nako e teletsana haeba moemeli o lokela ho romeloa ho laboraka e kholo bakeng sa teko.
Lik'hamphani tse ling li 'nile tsa hlahisa liteko tse ka khethollang liphetoho tse tloaelehileng tse tloaelehileng ho phaella ho tse ling tsa tlhahiso ea ACMG / ACOG e khothalletsoang. Liteko tsena li ka thusa haholo ho lemoha liphetoho tse sa tloaelehang tsa motsoako oa cystic fibrosis ha li etsoa e le liteko tsa ho latellana haeba sehlopha sa motheo se hlahisa liphello tse tloaelehileng.
Batho ba bang ba khetha ho ba le teko ea liteko tsa pele, haholo-holo haeba ba ka ba le phetoho e fokolang ea CFTR. Liteko tse tsoetseng pele ke tse khethehileng haholo 'me li lokela ho romeloa ho li-laboratory tse ba fang tsona. Liteko tsena li ka 'na tsa senyeha haholoanyane' me tsa nka nako e teletsana hore li fumane liphetho ho feta teko ea motheo ea teko e entsoeng lekaleng la sebaka.
Haeba u nahana ka teko ea li-carrier ea cystic fibrosis, ke habohlokoa haholo ho bua le moeletsi oa liphatsa tsa lefutso. Ka kakaretso, ho fumanoa hore ho na le tšusumetso e ntle ka litsela tse ngata, ho tloha ho lumella batsoali hore ba be mabifi ka tlhahlobo ea bakhachane e le hore ngoana oa bona a ka phekoloa ho tloha ha a tsoaloa ho fana ka khothatso ho ba fumanang hore ha ba na tšobotsi.
Bakeng sa ba se nang bokhachane nakong ea teko, empa ba fumane hore ke bajari, ho na le likhetho tse ngata tsa boitšoaro le likhetho tsa botho tse tla hloka tlhokomelo e hlokolosi le tšehetso e ngata.
Lisebelisoa:
Brennan, M., le I. Schrijver. Cystic Fibrosis: Tlhahlobo ea Phenotypes e Kopantsoeng, Tšebeliso ea Mekhoa ea Boithuto ba Likokoana-hloko, Litšoaneleho tsa Liphatsa Tsa Lefutso, Tsoelo-pele, le Lihlahisoa tsa Maiketsetso. Journal of Molecular Diagnostics . 2016. 18 (1): 3-14.
Dugueperoux, I., L'Hostis, C., Audrezet, M et al. Ho totobatsa Tšusumetso ea Tlhahlobo ea Ts'ebetso ea Lik'hamphani ho Malapa a Cystic Fibrosis. Journal ea Cystic Fibrosis . 2016. 15 (4): 452-9.
Straniero, L., Solda, G., Costantino, L. et al. Tlhaloso ea CFTR ea Whole-Gene e kopantsoe le Digital RT-PCR e ntlafatsa ho hlahlojoa ha liphatsa tsa lefutso tsa Cystic Fibrosis. Journal of Human Genetics . 2016. 61 (12): 977-984.