%0 Journal Article
%T Advances in the Studies of Molecular Heredity of Phenylketonuria<br>苯丙酮尿症分子遗传学研究进展Advances in the Studies of Molecular Heredity of Phenylketonuria
%A ZHANG Zhi
%A HE Yun-Shao
%A <br>张 誌
%A 何蕴韶 ZHANG Zhi
%A HE Yun-Shao
%J 遗传
%D 2004
%I 
%X Phenylketonuria (PKU) is one kinds of autosomal recessive disease caused by phenylalanine hydroxylase (PAH) gene mutation. This article reviews the recent molecular heredity progress on the phenylalanine hydroxylase gene's orientation, structure, and gene mutation and gene regulation. At same time, mutation gene in vitro expression and the character of 3D structure of PAH in PKU are involved. In this paper, also discussed the influence of vitro expression and 3D protein structure by gene mutations and the molecular mechanism of the relationship between genotype and phenotype in PKU patient.
%K phenylketonuria(PKU)
%K phenylalanine hydroxylase(PAH)
%K gene
%K Molecular Heredity<br>苯丙酮尿症
%K 苯丙氨酸羟化酶
%K 基因
%K 分子遗传
%U http://www.alljournals.cn/get_abstract_url.aspx?pcid=90BA3D13E7F3BC869AC96FB3DA594E3FE34FBF7B8BC0E591&jid=3E23F50E071DF18E21B2F5AEE4F1FA5E&aid=0BA00EBE5C73CAB7&yid=D0E58B75BFD8E51C&vid=96C778EE049EE47D&iid=94C357A881DFC066&sid=B3AAD7DC3C912B50&eid=7F9B7E84827A650F&journal_id=0253-9772&journal_name=遗传&referenced_num=4&reference_num=33