Sun G, Jiang L, Zhang X, Tong B, Dong G, Sun K
Laboratory of Molecular Genetics, China Medical University, Shenyang.
Yi Chuan Xue Bao. 1997;24(6):492-5.
Exon 7 of the phenylalanine hydroxylase (PAH) gene was analyzed in 45 children affected with classic phenylketonuria (PKU) from northern China by using PCR-single strand conformation polymorphism (PCR-SSCP) technique and DNA direct sequencing. Six missense mutations (i.e. R243Q, R241H, G247V, L249H, P254I and G257V) and one silent mutation (V245V) were identified. The latter three missense mutations were demonstrated as novel mutations in comparison with the PAH mutation Database. One missense mutation (R241H) was first documented in Chinese. Our results showed population and regional differences in the PAH mutation distribution and suggest that there is more than one founding population for PKU in China. The finding of novel mutations will enhance our capability in molecular diagnosis of PKU.
采用聚合酶链反应-单链构象多态性（PCR-SSCP）技术和DNA直接测序法，对来自中国北方的45例典型苯丙酮尿症（PKU）患儿的苯丙氨酸羟化酶（PAH）基因第7外显子进行了分析。共鉴定出6个错义突变（即R243Q、R241H、G247V、L249H、P254I和G257V）和1个沉默突变（V245V）。与PAH突变数据库相比，后3个错义突变被证明是新的突变。其中1个错义突变（R241H）是首次在中国人群中报道。我们的结果显示了PAH突变分布存在人群和区域差异，提示中国PKU存在不止一个奠基人群。新突变的发现将提高我们对PKU的分子诊断能力。
