论文部分内容阅读
目的探讨新疆维吾尔族苯丙酮尿症(phenylketonuria,PKU)患儿苯丙氨酸羟化酶(phenylalanine hydroxylase,PAH)基因的突变情况及突变特征,为临床诊疗提供理论参考。方法应用聚合酶链式反应产物直接测序的方法对新疆确诊的22例维吾尔族PKU患儿PAH基因13个外显子区域及内含子衔接区进行基因突变分析。结果在22例患儿的22对PAH等位基因中共检测到了16种突变,64个PAH基因突变位点,分别为位于外显子3、5、6、7、11、12及内含子2、3、10、12区域;其中第7外显子p.Val245Val(c.735G>A)静默突变位点占此次检出突变位点比例最高,为77.27%(17/22)。结论明确了新疆维吾尔族苯丙酮尿症患儿PAH基因的突变种类和特征,为深入研究维吾尔族家系苯丙酮尿症奠定基础。
Objective To investigate the mutations and mutations of phenylalanine hydroxylase (PAH) gene in children with phenylketonuria (PKU) in Xinjiang Uygur and to provide theoretical references for clinical diagnosis and treatment. Methods Twenty-two Uygur PKU children diagnosed in Xinjiang were enrolled in this study. Thirteen exon and intron junction regions of PAH gene were genotyped by polymerase chain reaction (PCR) sequencing. Results A total of 16 mutations and 64 PAH gene mutations were detected in 22 pairs of PAH alleles in 22 children, which were located in exon 3, 5, 6, 7, 11, 12 and intron 2 , 3,10,12 region. Among them, the silent mutation in p.Val245Val (c.735G> A) in exon 7 accounted for the highest proportion of the detected mutation sites (77.27%, 17/22). Conclusions The types and characteristics of PAH gene mutations in children with phenylketonuria in Xinjiang Uigur were clarified to lay the foundation for the further study of phenylketonuria in Uyghur families.