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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
The mutations of phenylalanine hydroxylase (PAH) gene exon 7 in 45 patients with PKU in north China were identified by PCR-single strand conformation polymorphism analysis and DNA direct sequencing. Six missense mutations and one kind of quiescent mutation were detected: R243Q. R41H, G247V. L249H. P254I. G257V and V245V. After comparing with international PAH gene mutation database, confirm G257V. P254I and L249H are the first mutations found in the world. The results revealed that the Chinese and other races and north China and southern China PAH mutation characteristics are different. To clarify the distribution of PAH gene exon 7 mutations in North China population is helpful to improve the gene diagnosis rate of PKU and to provide a reference value for the gene’s origin and evolution