苯丙氨酸羟化酶基因的六种新型突变

Six novel mutations in PAH gene detected by sequencing

目的 检测中国苯丙酮尿症 ( phenylketonuria ,PKU )患者苯丙氨酸羟化酶 (phenylalaninehy droxylase ,PAH)基因新的突变位点。 方法 应用聚合酶链反应 单链构象多态性及DNA直接测序检测 40例经典型PKU患者和 3 0名正常对照的PAH基因。结果 在PAH基因上共发现 11种突变和 3种多态 ,3 0名正常对照者PAH基因未发现异常。结论 经与国际PAH基因突变数据库比较 ,确认M 2 76K、M 2 76R、2 80insT、IVS10nt +3 2T→A、IVS4nt +4 7C→T是国际上首次发现的突变 ,H 2 90R是中国PKU患者基因上首次发现的新型突变。

Objective To explore new mutation in phenylalanine hydroxylase(PAH) gene. Methods The PAH genes from 40 phenylketonuria (PKU) patients and 30 normal controls were screened by PCR-single strand conformation polymorphism(SSCP) and further sequencing. Results Eleven mutations and 3 polymorphisms in PAH gene were found. No abnormalities in the PAH gene from 30 controls were detected. Conclusion M276K, M276R, 280insT, IVS10nt+32T→A, IVS4nt+47C→T were demonstrated as novel mutations in comparison with the PAH mutation database.One mission mutation (H290R) was first documented in Chinese PKU gene.