Video: Dab tsi hloov pauv ua rau cystic fibrosis?
2024 Tus sau: Michael Samuels | [email protected]. Kawg hloov kho: 2023-12-16 01:44
CF yog ua los ntawm a kev hloov pauv hauv noob neej cystic fibrosis cov tsos mob transmembrane conductance regulator (CFTR). Feem ntau kev hloov pauv , 50F508, yog kev tshem tawm (Δ lub ntsiab lus tshem tawm) ntawm peb lub nucleotides uas ua rau poob ntawm cov amino acid phenylalanine (F) ntawm 508 txoj haujlwm ntawm cov protein.
Ib yam li ntawd, koj yuav nug, dab tsi hloov pauv DNA ua rau cystic fibrosis?
Cov kev tshuaj ntsuam genetic txawv txav feem ntau ua rau cystic fibrosis cuam tshuam nrog kev tshem tawm tsuas yog peb qho DNA bases (ib codon?) los ntawm CFTR noob. Cystic fibrosis yog tus kab mob recessive genetic?, uas txhais tau tias ob daim qauv ntawm tus neeg CFTR cov noob yuav tsum muaj kev hloov pauv ? rau cystic fibrosis cov tsos mob tshwm sim.
Tsis tas li, muaj pes tsawg qhov kev hloov pauv ua rau cystic fibrosis? Rau ib tus neeg kom muaj CF, yuav tsum muaj kev hloov pauv hauv ob daim qauv ntawm CFTR noob. Cov kws tshawb fawb tau pom ntau dua 1, 700 kev hloov pauv sib txawv hauv CFTR cov noob uas tuaj yeem ua rau CF. (Kev hloov pauv tuaj yeem yog qhov hloov pauv me me; hloov ntawm ib tsab ntawv mus rau lwm tsab ntawv, lossis tshem tawm ib lossis ntau tsab ntawv.)
Ib yam nkaus, dab tsi yog qhov kev hloov pauv feem ntau uas ua rau cystic fibrosis?
Cov kev tshem tawm ntawm phenylalanine 508 (ΔF508-CFTR) yog qhov hloov pauv ntau ntawm cov neeg mob cystic fibrosis (CF). Cov kev hloov pauv hloov pauv tau ua rau muaj kev ua txhaum loj hauv kev ua lag luam, thiab ob peb txoj hauv kev uas mus txog cov ntshav ntshav ua haujlwm tsis zoo.
Cov protein twg cuam tshuam los ntawm cystic fibrosis?
Cov noob caj noob ces CF tau coj los ntawm lub cev epithelial cells los tsim qhov tsis xws luag ntawm a protein ntau hu ua CFTR (lossis cystic fibrosis cov tsos mob transmembrane conductance regulator) pom hauv cov hlwb uas kab kab mob hauv lub ntsws, zom zaub mov, qog tawm hws, thiab cov kab mob genitourinary.
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