中国北方人PAH基因外显子6,12的突变研究

Studies on Mutation in Exon 6 and 12 of PAH Gene in Northern Chinese

目的：检测中国北方人中苯丙酮尿症（ＰＫＵ）患者苯丙氨酸羟化酶（ＰＡＨ）基因外显子６，１２ 中的突变。方法：应用聚合酶链反应—变性梯度凝胶电泳（ｐｏｌｙｍ ｅｒａｓｅ ｃｈａｉｎ ｒｅａｃｔｉｏｎ ｇｒａｄｉｅｎｔｇｅｌｅｌｅｃｔｒｏｐｈｏｒｅｓｉｓ， ＰＣＲ－ＤＧＧＥ）及直接测序方法，检测突变。结果：中国北方人３４ 例ＰＫＵ 患者外周血ＤＮＡ 中鉴定ＰＡＨ 基因外显子６，１２ 中的３种突变：Ｙ２０４Ｃ，Ｑ２３２Ｑ 和Ｒ４１３Ｐ，其频率分别为５．９％ （４／６８），４．４％ （３／６８），５．９％ （４／６８）。结论：本实验提示Ｑ２３２Ｑ 可能为中国北方人中较常见的一种新突变，并可能为协助苯丙酮尿症的诊断提供方便手段。同时证实了ＤＧＧＥ法不仅是一种高效快速的突变检测技术，而且作为一种鉴定已知点突变及通过连锁分析进行产前诊断的简便策略。

Objective:This study was to detect the mutation in exon 6 and 12 of PHA gene in Northern Chinese. Methods:We used polymerase chain reaction denaturing gradiet gel electrophoresis and DNA direct sequencing to detect mutations. Results:We identified 3 mutations in exon 6 and 12 of PAH gene: Y204C, Q232Q and R413P, and their frequencies were 5.9%(4/68), 4.4%(3/68) and 5.9%(4/68), respectively. Conclusion:The previous researchers indicated that Y204C and R413P were the common mutations, but Q232Q may be a novel mutation in Northern Chinese, and may be a convinent way to be used as an aid to the diagnosis of phenylketonuria. We also confirm that DGGE is not only an efficient method of detecting mutations, but can also be used as a simple method for identification of known point mutations and prenatal diagnosis through linkage analysis. Conclusion:The previous researchers indicated that Y204C and R413P were the common mutations, but Q232Q may be a novel mutation in Northern Chinese, and may be a convinent way to be used as an aid to the diagnosis of phenylketonuria. We also confirm that DGGE is not only an efficient method of detecting mutations, but can also be used as a simple method for identification of known point mutations and prenatal diagnosis through linkage analysis. The previous researchers indicated that Y204C and R413P were the common mutations, but Q232Q may be a novel mutation in Northern Chinese, and may be a convinent way to be used as an aid to the diagnosis of phenylketonuria. We also confirm that DGGE is not only an efficient method of detecting mutations, but can also be used as a simple method for identification of known point mutations and prenatal diagnosis through linkage analysis.