Point kev hloov pauv hauv PAH noob paub tias ua rau PKU hauv ntau pawg haiv neeg, thiab kev tshem tawm loj lossis kev sib tshooj ntau txog li 3% ntawm PAH hloov pauv hauv qee pawg haiv neeg..
hom kev hloov pauv twg ua rau PKU?
Gene alterations (mutations) in the PAH gene ua rau PKU. Kev hloov pauv hauv PAH noob ua rau qis qis ntawm cov enzyme hu ua phenylalanine hydroxylase. Cov qib qis no txhais tau hais tias phenylalanine los ntawm tus neeg noj zaub mov tsis tuaj yeem metabolized (hloov), yog li nws tsim kom muaj tshuaj lom hauv cov hlab ntsha thiab lub cev.
PKU puas yog qhov hloov pauv hloov pauv?
Haplotype tsom xam pom tias txhua PKU alleles qhia cov codon 55 frameshift mutation nthuav tawm haplotype 1. Hauv peb lub vaj huam sib luag ntawm DNA soj ntsuam 13% ntawm tag nrho cov mutant haplotype 1 alleles nqa qhov kev hloov pauv tshwj xeeb..
Kev hloov caj ces ntawm phenylketonuria yog dab tsi?
Ib yam tsis zoo (genetic mutation) ua rau PKU, uas tuaj yeem mob me, nruab nrab lossis hnyav. Hauv ib tus neeg uas muaj PKU, cov noob tsis zoo no ua rau tsis muaj lossis tsis txaus ntawm cov enzyme uas xav tau los ua cov phenylalanine, ib qho amino acid.
Ib qho piv txwv ntawm kev hloov pauv yog dab tsi?
Piv txwv li, kab mob qog nqaij hlav yog tshwm sim los ntawm ib qho kev hloov pauv (kev hloov pauv tsis zoo) hauv cov noob beta-hemoglobin uas hloov GAG codon rau hauv GUG, uas encodes cov amino acid valine ntau dua glutamic acid.
