A kev hloov pauv caj ces uas ib qho kev hloov pauv hloov pauv hloov caj ces hauv txoj hauv kev uas tsim cov amino acid uas txawv ntawm cov amino acid ib txwm nyob ntawm txoj haujlwm ntawd. Qee qhov kev hloov pauv tsis zoo (lossis kev hloov pauv) yuav hloov pauv txoj haujlwm ntawm cov protein. Kuj hu ua missense variant.
Thaum twg tsis muaj kev hloov pauv tshwm sim?
Kev hloov pauv tsis zoo tshwm sim thaum muaj qhov yuam kev hauv DNA code thiab ib qho ntawm DNA puag khub hloov pauv, piv txwv li, A yog pauv rau C. Qhov kev hloov pauv no. txhais tau hais tias DNA tam sim no encodes rau ib tug sib txawv amino acid, hu ua ib tug hloov.
piv txwv ntawm kev hloov pauv tsis zoo yog dab tsi?
Piv txwv li hauv kab mob qog nqaij hlav, 20th nucleotide ntawm cov noob rau beta saw ntawm hemoglobin ntawm chromosome 11 tau hloov los ntawm codon GAG rau GTG thiaj li thaum txhais. 6th amino acid tam sim no yog valine hloov glutamic acid. Sib piv: kev hloov pauv tsis tseem ceeb.
Tus kab mob hauv qab no twg yog tshwm sim los ntawm kev hloov pauv tsis raug?
Missense mutations tuaj yeem ua rau cov protein tsis ua haujlwm, thiab cov kev hloov pauv no yog lub luag haujlwm rau tib neeg cov kab mob xws li Epidermolysis bullosa, kab mob mob hlwb, thiab SOD1 kho ALS.
Puas yog kev hloov pauv tsis raug cai?
A missense mutation tuaj yeem ua rau tuag taus lossis tuaj yeem ua rau mob hnyav Mendelian; Tsis tas li ntawd, nws tuaj yeem ua rau mob me me, ua haujlwm nruab nrab, lossis muaj txiaj ntsig.
