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6外显子突变研究  

Study on the mutations in exon 6 of phenylalanine hydroxylase gene among Uighur neonates with phenylketonuria in southern Xinjiang

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

机构地区：[1]新疆维吾尔自治区人民医院,新疆乌鲁木齐830001

出　　处：《实用预防医学》2015年第4期495-497,共3页Practical Preventive Medicine

基　　金：新疆维吾尔自治区人民医院基金项目(20110116)

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6外显子的突变特征。方法应用PCR产物直接测序的方法对新疆南疆地区27例维吾尔族PKU患儿PAH基因进行序列分析,以确定其突变位点。结果在54条染色体中共检测到了3种,22个PAH基因突变位点,分别为:p.R176X(c526C>T)无义突变;p.EX6-96A>G(c.611A>G)剪接突变;p.Q232Q(c.696A>G)静默突变;其中p.Q232Q为此次检测的高检出突变位点。结论明确了新疆南疆地区维吾尔族苯丙酮尿症患儿PAH基因第6外显子的突变种类和特征,为深入研究奠定基础。Objective To study the mutation characteristics in exon 6 of phenylalanine hydroxylase gene （PAH） among Ui- ghur neonates with phenylketonuria （PKU） in southern Xinjiang. Methods Polymerase chain reaction （PCR） technique and DNA direct sequencing were used to detect the mutations in exon 6 of the PAH gene in 27 Uighur neonates with PKU from southern Xinjiang. Results A total of 22 mutant alleles were detected in 54 PAH alleles, and 3 different mutations were iden- tified in exon 6, which were p. RI76X （c526C 〉 T） nonsense mutation, p. EX6 - 96A〉 G （c. 611A〉 G） splice site mutation and p. 02320 （c. 696A〉 G） silent mutation, respectively. The p. Q232Q mutations were the highest incidence in this examina- tion. Conclusions The mutation types and characteristics in exon 6 of the PAH gene in Uighur neonates with PKU in south- ern Xinjiang have been identified, and these 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[医药卫生—儿科]