云南经典PKU基因外显子4、10和12突变的检测

Detection of PAH gene exon4,10 and 12 mutation of phenylketonuria in Yunnan.

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７１４％、３５７％；Ａ／Ｃ杂合频率是１０７１％，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。

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.