论文部分内容阅读
目的探讨邯郸地区苯丙酮尿症(PKU)患儿苯丙氨酸羟化酶(PAH)基因的突变情况及突变特征,为该地区苯丙酮尿症的产前诊断、治疗及干预措施的制定提供科学依据。方法选择15例PKU患儿及其父母为研究对象,利用Sanger测序技术,检测15例PKU患儿及其父母的PAH基因的突变,分析邯郸地区PKU患儿PAH基因突变特点。结果通过对15例PKU患儿全部外显子进行基因序列分析,15例患儿明确了30个突变基因,检出率高达100.0%。30个基因突变分为12种类型,其中包含有错义突变8种、剪接突变2种、无义突变1种、缺失突变1种。其中R243Q突变频率最高(23.3%),其次是V399V突变(13.3%)。结论邯郸地区PKU患者PAH基因突变具有明显的突变热点区域(外显子3、4、5、7、10、11、12)和热点突变(R243Q、V399V、IVS4),为深入研究邯郸地区苯丙酮尿症家系奠定了基础。
Objective To investigate the mutations and mutations of phenylalanine hydroxylase (PAH) gene in children with phenylketonuria (PKU) in Handan area, and to provide prenatal diagnosis, treatment and intervention of phenylketonuria Scientific basis. Methods Fifteen patients with PKU and their parents were selected as research objects. Sanger sequencing was used to detect the mutation of PAH gene in 15 children with PKU and their parents, and to analyze the characteristics of PAH gene mutation in children with PKU in Handan area. Results The sequence analysis of all the exons in 15 cases of PKU children, 15 cases of children identified 30 mutant genes, the detection rate as high as 100.0%. 30 gene mutations are divided into 12 types, including 8 kinds of missense mutations, 2 splicing mutations, 1 nonsense mutation and 1 deletion mutation. Among them, the frequency of R243Q mutation was the highest (23.3%), followed by the V399V mutation (13.3%). Conclusions Mutations of PAH gene in PKU patients in Handan area have obvious hot spots (exons 3, 4, 5, 7, 10, 11, 12) and hot spots (R243Q, V399V, IVS4) Urinary family has laid a foundation.