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.
出处
《实用预防医学》
CAS
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)
