宁夏汉族苯丙氨酸羟化酶基因突变分析

Analysis of the mutations of phenylalanine hydroxylase gene in Han ethnic group of Ningxia

【目的】了解宁夏汉族苯丙氨酸羟化酶(phenylalanine hydroxylase,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12例汉族苯丙酮尿症(phenylketonuria,PKU)患儿PAH基因全部外显子及其启动子区域序列。【结果】在24个PAH等位基因中共检出18个突变基因,突变检出率为75%(18/24),这些突变包含11种类型,其中错义突变9种、无义突变1种、剪切位点突变1种。【结论】研究结果显示宁夏地区汉族PAH基因突变表现出多样性、复杂性,呈现明显的地域特色。

[Objective] To understand the structure and characteristics of the mutations of phenylalanine hydroxylase （PAH） gene in Han ethnic group of Ningxia. [Method] All of the exons and promoters of PAH gene of 12 phenylketo- nuria （PKU） cases in children of Han were determined by using the method of PCR direct sequencing. [Results] 18 mu- tations were detected in 24 PAH alleles. The detection rate of mutations was 75% （18/24）. There were 11 kinds of muta- tions,including 9 of missense mutations,1 of nonsense mutations and 1 of splice site mutations. [Conclusion] According to the research, the mutations of PAH gene in Han group of Ningxia show diversity, complexity, and significant ethnic char- acteristics.