| 苯丙酮尿症突变基因分析和产前诊断 |
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| 引用本文： | 吴冠芸,徐光芝.苯丙酮尿症突变基因分析和产前诊断[J].中华医学遗传学杂志,1995,12(6):321-324,I021. |
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| 作者姓名： | 吴冠芸 徐光芝 |
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| 作者单位： | 首都儿科研究所，中国医学科学院基础医学研究所 |
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| 基金项目： | 北京市卫生局青年科学基金,中华医学基金 |
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| 摘 要： | 应用多重等位基因特异ＰＣＲ方法检测分析了３０个苯丙酮尿症家系的５种苯丙氨酸羟化酶基因点突变：外显子７（Ａｒｇ２４３Ｇｌｎ），外显子１２（Ａｒｇ４１３Ｐｒｏ），外显子３（Ａｒｇ１１１Ｔｅｒｍ），外显子１１（Ｔｙｒ３５６Ｔｅｒｍ）和外显子６（Ｔｙｒ２０４Ｃｙｓ）。结果表明，这五种突变占ＰＫＵ基因的４６．６％，其中最常见的突变为前两种，分别占２３．３％和１０．０％。完成了１例ＰＫＵ风险胎儿的产前诊断。
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| 关 键 词： | 苯丙酮尿症 突变基因 胎前诊断 |
FREQUENCY OF FIVE POINT MUTATIONS OF PHENYLALANINE HYDROXYLASE AND PRENATAL GENE DIAGNOSIS OF PHENYLKETONURIA |
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| Song Fang,Wu Guanyun,Xu Guangzhi,et al..FREQUENCY OF FIVE POINT MUTATIONS OF PHENYLALANINE HYDROXYLASE AND PRENATAL GENE DIAGNOSIS OF PHENYLKETONURIA[J].Chinese Journal of Medical Genetics,1995,12(6):321-324,I021. |
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| Authors: | Song Fang Wu Guanyun Xu Guangzhi |
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| Abstract: | The five known mutant alleles of the phenylalanine hydroxylase(PAH)gene were analyzed in 30 phenylketonuria(PKU)families from north China by multiplex allele-specific PCR(MASPCR).The results showed that these five point mutations accounted for 46.6% of all PKU genes.The two most frequent mutations were Arg243Gln and Arg413Pro.Their frequencies were 23.3% and 10.0% respectively.One prenatal gene diagnosis was performed.The mutations were identified in both parents,the fetus was a heterozygote carrying Arg243Gln. |
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| Keywords: | Phenylketonuria Mutant gene Prenatal diagnosis Polymerase chain reaction |
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