新疆维吾尔族苯丙氨酸羟化酶基因突变分析

Mutation analysis of the Phenylalanine hydroxylase gene in a Uygur population in Xinjiang

目的了解新疆维吾尔族苯丙氨酸羟化酶(PAH)基因的突变构成及特点。方法采用PCR产物直接测序的方法,测定9例维吾尔族苯丙酮尿症(PKU)患者PAH基因全部外显子及其启动子区域序列。结果在18个PAH等位基因中共检出15个不同的突变基因,检出率为83.3%(15/18),常见突变类型包括R243Q、EX6-96A>G和R111X,其余突变类型均为散在发生。从维吾尔族中检出的PAH突变基因均系在本民族中首次报道,其中5'-Flanking-480DelACT和5'-Flanking-626 G>C突变是世界新的PAH基因突变类型。L348V突变是国内未见报道的新突变。结论研究结果显示维吾尔族PAH基因突变表现出多样性、复杂性和特殊性,具有显著的民族特色。

【Objective】To characterize the mutation composition of Phenylalanine hydroxylase（PAH） gene in Uygur ethnicity in Xinjiang.【Methods】All of the exons and their promoters of PAH gene of nine Uygur patients with Phenylketonuria（PKU） were amplified by using polymerase chain reaction（PCR） and subjected to direct sequencing using a DNA sequencer.【Results】Fifteen mutations were identified in eighteen PAH al-leles of PKU patients in a Uygur population in Xinjiang for the first time,yielding a total detection rate of 83.3%（15/18）.Among them,R243Q,EX-96A/G and R111X were found to be the prevalent mutations,and other mutations were sporadically detected.Additionally,5＇-Flanking-480DelACT and 5＇-Flanking-625 GC were ascertained to be novel PAH gene mutations worldwide and L348V was identified in China for the first time.【Conclusions】Several novel PAH gene mutations are identified in Uygur ethnicity,which may reflect great genetic diversity and specialization of PAH gene mutations in Uygur ethnicity.