【摘要】 应用ＰＣＲ－单链构象多态性分析及ＤＮＡ直接测序，对４５例中国北方苯丙酮尿症（ＰＫＵ）患者苯丙氨酸羟化酶（ＰＡＨ）基因外显子７内突变进行了鉴定。共检出６种错义突变及一种静止突变：Ｒ２４３Ｑ．Ｒ４１Ｈ，Ｇ２４７Ｖ．Ｌ２４９Ｈ．Ｐ２５４Ｉ．Ｇ２５７Ｖ和Ｖ２４５Ｖ。经与国际ＰＡＨ基因突变数据库比较，确认Ｇ２５７Ｖ．Ｐ２５４Ｉ和Ｌ２４９Ｈ为国际上首次发现的突变。结果揭示，中国人与其他种族及中国北方与南方人群ＰＡＨ突变特点不同。明确了中国北方人群中ＰＡＨ基因外显子７基因突变分布，有助于提高ＰＫＵ的基因诊断率，对基因的起源、进化研究有参考价值更多还原

【Abstract】 Exon 7 of the phenylalanine hydroxylase (PAH) gene was analyzed in 45 children affected with classic genylketonuria (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 thatthere is more than one foundiog population for PKU in China, The finding of novel mutations will enhance our capability in molecular diagnosis of PKU.更多还原