| 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 |
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| 引用本文： | 张眉 顾学范. 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[J]. 中华医学遗传学杂志, 1995, 12(6): 324-326 |
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| 作者姓名： | 张眉 顾学范 |
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| 作者单位： | 上海第二医科大学附属新华医院，上海市儿科医学研究所 |
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| 基金项目： | 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 |
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| 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Ａａｌ２４５Ｖａｌ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。
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| 关 键 词： | 苯丙氨酸羟化酶 基因突变 基因频率 中国 南方人 |
MUTATIONS AND THEIR FREQUENCIES IN EXON 7 OF PHENYLALANINE HYDROXYLASE GENG OF PHENYLKETONURIA IN SOUTHERN CHINESE |
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| Zhang Mei,Gu Xuefan,Zhang Meihua,el al.. MUTATIONS AND THEIR FREQUENCIES IN EXON 7 OF PHENYLALANINE HYDROXYLASE GENG OF PHENYLKETONURIA IN SOUTHERN CHINESE[J]. Chinese journal of medical genetics, 1995, 12(6): 324-326 |
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| Authors: | Zhang Mei Gu Xuefan Zhang Meihua el al. |
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| Abstract: | 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. |
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| Keywords: | Phenylalanine hydroxylase gene Mutation Polymerase chain reaction Denaturing gradient gel electrophoresis |
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