中国南方人苯丙氨酸羟化酶基因外显子7点突变及其频率分析  

MUTATIONS AND THEIR FREQUENCIES IN EXON 7 OF PHENYLALANINE HYDROXYLASE GENG OF PHENYLKETONURIA IN SOUTHERN CHINESE

作　　者：张眉[1] 顾学范[1] 张美华[1] 张雅芬[1] 潘星时[1] 黄晓东[1] 沈永年[1] 叶军[1] 陈瑞冠[1] 

机构地区：[1]上海第二医科大学附属新华医院,上海市儿科医学研究所

出　　处：《中华医学遗传学杂志》1995年第6期324-326,共3页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金;中国博士后科学基金;上海市卫生局优秀青年人材专项基金

摘　　要：采用ＰＣＲ、变性梯度凝胶电泳及ＤＮＡ直接序列分析等突变分析方法，对５８例中国南方人苯丙酮尿症的苯丙氨酸羟化酶外显子７进行了分析，共发现５种突变位点：ＩＶＳ６ｎｔ－１、Ａｒｇ２４１Ｃｙｓ、Ａｒｇ２４３Ｇｌｕ、Ｖａｌ２４５Ｖａｌ及Ａｒｇ２５２Ｇｌｎ，其频率分别为３／１１６、１／１１６、１１／１１６、７／１１６及４／１１６．结果提示南方人群ＰＫＵ基因突变位点有别于北方人群。The molecular genetics of phenylalanine hydroxylase gene of phenylketonuria in southern Chinese was studied by using polymerase chain reaction,denaturing gradient gel electrophoresis and DNA directsequencing technics.We analysed exon 7 of the phenylalanine hydroxylase genes in 58 cases of phenylketonuria and identified the frequencies of 5 kinds of mutation(IVS6nt-1,Arg 241Cys,Ars243Glu,Val245Val and Arg252Gln)of exon 7 and the partial introns clamping it in the PAH gene.The frequencies of IVS6nt-1,Arg241Cys,Arg243Glu,Val245Val and Arg252Gln are 3/116, 1/116,11/116,7/116 and 4/116,respectively.The results indicate that there are obvious differences in mutation between southern and northern Chinese PKUs.

关 键 词：苯丙氨酸羟化酶 基因突变 基因频率 中国 南方人 

分 类 号：R589.302[医药卫生—内分泌]