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。
Abstract
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 phenylketonuria (PKU) cases in children of Han were determined by using the method of PCR direct sequencing. Results 18 mutations were detected in 24 PAH alleles.The detection rate of mutations was 75% (18/24).There were 11 kinds of mutations,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 characteristics.
关键词
苯丙氨酸羟化酶 /
基因突变 /
苯丙酮尿症 /
汉族
Key words
phenylalanine hydroxylase /
gene mutation /
phenylketonuria /
Han ethic group
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