| 云南经典PKU基因外显子4,10和12突变的检测 |
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| 引用本文： | 朱月春,汪宁.云南经典PKU基因外显子4,10和12突变的检测[J].中国优生与遗传杂志,1999,7(2):13-15. |
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| 作者姓名： | 朱月春 汪宁 |
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| 作者单位： | 昆明医学院生化教研室 |
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| 基金项目： | 云南省应用基础研究基金 |
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| 摘 要： | 目的：探讨云南经典ＰＫＵ的基因突变特征。方法：应用ＰＣＲˉＳＣＰ和ＰＣＲ－循环测序技术对云南１３个ＰＫＵ家系１４名患儿的ＰＡＨ基因外显子４、１０和１２进行了检测。结果：Ｒ４１３Ｐ、Ｗ３２６Ｘ的突变频率分别是７１４％、３５７％；Ａ／Ｃ杂合频率是１０７１％，同时检测到外显子４的３种异常带型。结论：云南ＰＫＵ患者的基因突变不同于北方人群，Ｐ４１３Ｐ、Ａ／Ｃ杂合率约为北方人群突变的１／２；Ｗ３２６Ｘ则高于北方人群；外显子４的突变也可能高于北方人群。
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| 关 键 词： | 苯丙酮尿症 单链构象多态性 PCR-循环测序 基因突变 |
Detection of PAH gene exon4,10 and 12 mutation of phenylketonuria in Yunnan. |
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| Zhu Yuechun,Wang Ning..Detection of PAH gene exon4,10 and 12 mutation of phenylketonuria in Yunnan.[J].Chinese Journal of Birth Health & Heredity,1999,7(2):13-15. |
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| Authors: | Zhu Yuechun Wang Ning |
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| Abstract: | Objection:To characterize gere mutation in order to perform prental diagnosis in Classical Phenylketonuria in Yunnan, Method:Exon 4. 10 and 12 of PAH gene in 14 patients of 13 families were analysed by PCR-SSCP. PCR-cycle sequencing. Results: Frequence of both R413P. W326X were 7. 14% and 3.57% respectively. The heterozygosity rate of A/C was 10.7% and there were three abnormal bands in exon 4.Conclusion : Yunnan PKU gene mutation frequencies are different from northern Chinese; R413P and the heterozygosity rate of A/C are about half of northern Chinese : W326X is higher then in Northern Chinese, and so is mutation in exon 4,possible. |
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| Keywords: | Phenylketonuria Single strand conformation Bolymorphism PCR-Cycle Sequencing Gene mutation |
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