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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，有更广阔的应用前景
AIM: To detect mutations in exon 6 and 12 of the phenylalanine hydroxylase (PAH) gene in patients with phenylketonuria (PKU) in northern China. Methods: Mutations were detected by polymerase chain reaction-gradient gel electrophoresis (PCR-DGGE) and direct sequencing. Results: Three mutations in exon 6 and 12 of PAH gene were identified in peripheral blood DNA of 34 patients with PKU in North China. The frequencies of Y204C, Q232Q and R413P were 5.9% (4/68), respectively. 4% (3/68), 5.9% (4/68). Conclusion: This study suggests that Q232Q may be a new mutation among the northerners in China and may be a convenient method to assist the diagnosis of phenylketonuria. At the same time, it was confirmed that the DGGE method is not only an efficient and rapid mutation detection technique, but also has a broader application prospect as a simple strategy for identifying known point mutations and prenatal diagnosis by linkage analysis