新疆南疆地区维吾尔族苯丙酮尿症患儿苯丙氨酸羟化酶基因第2、3、4外显子突变研究  

Studies on the mutations of exon2,exon3,exon4 in phenylalanine hydroxylase gene in south region of Xinjiang Uighurs

作　　者：依布拉音[1] 王慧琴[1] 张晓玲[1] 赵宗峰[1] 张艳君[1] 吴卫东[1] 

机构地区：[1]新疆维吾尔自治区人民医院临床医学研究中心,乌鲁木齐830001

出　　处：《中国优生与遗传杂志》2015年第7期12-13,共2页Chinese Journal of Birth Health & Heredity

基　　金：新疆维吾尔自治区人民医院基金项目(20060202)

摘　　要：目的了解新疆南疆地区维吾尔族苯丙酮尿症(phenylketonuria,PKU)患儿苯丙氨酸羟化酶(phenylalanine hydroxylase,PAH)基因第2、3、4外显子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PCR产物直接测序的方法对新疆南疆地区12例维吾尔族PKU患儿PAH基因第2、3、4外显子进行序列分析,以确定其突变位点。结果在24条染色体中共检测到了3种突变,3个PAH基因突变位点,分别为位于外显子3及内含子2、3区域;其中IVS3-22C>T(c.353-22C>T)为此次检测相对高检出的突变位点。结论明确了新疆南疆维吾尔族苯丙酮尿症患儿PAH基因第2、3、4外显子的突变种类和特征,为深入研究和临床诊断维吾尔族苯丙酮尿症奠定基础。Objective：To study the characteristics of the mutations of exon2,exon3,exon4 in phenylalanine hydroxylase gene in south region of Xinjiang Uighurs. Methods：The mutations in exon2,exon3,exon4 of the PAH gene were detected by PCR and DNA sequencing in 12 Uighur patients with PKU. Results：By sequencing analysis,there are 3 different,a total of 3mutations in 24 PAH alleles. The mutations were in iotron2,exon3,intron3 of the PAH gene. The IVS3-22C〉T（c.353-22C〉T）mutations was the highest in this examination. Conclusion：The mutation characteristics in exon2,exon3,exon4 of the PAH gene in the south region of Xinjiang Uighurs have been identified,and it may lay the foundation for further research.

关 键 词：苯丙氨酸羟化酶 苯丙酮尿症 基因突变 

分 类 号：R725.8[医药卫生—儿科]