摘要
目的探讨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5外显子的突变特征。方法应用PCR产物直接测序法对新疆南疆地区17例维吾尔族PKU患儿PAH基因第5外显子进行序列分析,以确定其突变位点。结果 34条染色体中检测到1种突变,即p.R158Q(c.473G>A),为错义突变;17例患儿中3例发生此突变,突变检出比例为17.65%。结论首次明确新疆南疆地区维吾尔族PKU患儿PAH基因第5外显子的突变种类和特征。
Objective To study the characteristics of the mutations of exon 5 in phenylalanine hydroxylase （PAH） gene in Uygur children with phenylketonuria in south region of Xinjiang. Methods The mutations in exon 5 in PAH gene were detected by PCR and DNA sequencing in 17 Uygur children with PKU in south region of Xinjiang. Results By sequencing analysis, there was one gene mutation in 34 PAH chromosomes, that was p. R158Q （c. 473G〉A） missense mutation, which occurred in 3 children out of 17 phenylketonuria children （17. 65%）. Conclusion The mutation type and characteristics of exon 5 mutation in PAH gene in Uygur children with phenylketonuria in south region of Xinjiang have been identified for the first time.
出处
《中华实用诊断与治疗杂志》
2015年第8期761-762,766,共3页
Journal of Chinese Practical Diagnosis and Therapy
基金
新疆维吾尔自治区人民医院基金项目(20110116)
