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应用聚合酶链反应(PCR)方法扩增苯丙氨酸羟化酶(PAH)基因的每个外显子及其侧翼的内含子,并克隆到M 13载体中进行序列分析。发现中国人苯丙酮尿症(Phenylketonuria,PKU)患者的PAH基因外显子3中有1个Arg~(111)→Ter~(111)的点突变,此突变与东方人最常见的突变单体型4呈连锁不平衡。此突变占中国人PAH等位基因的10％左右,但不存在于高加索人群中,表明在种族分化过程中PAH基因位点发生了互不相关的突变事件。
Each exon of phenylalanine hydroxylase (PAH) gene and its flanking intron were amplified by polymerase chain reaction (PCR) and cloned into the M 13 vector for sequence analysis. Found that there was a point mutation in Arg ~ (111) → Ter ~ (111) in exon 3 of PAH gene in Chinese patients with Phenylketonuria (PKU). This mutation was associated with the most common mutant monomer Type 4 was a chain imbalance. This mutation accounts for about 10% of the Chinese PAH allele, but not in the Caucasians, indicating that mutations in the PAH gene locus have been independently linked during racial differentiation.