742例育龄妇女PAH基因突变筛查结果分析

Analysis of screening results of mutation of PAH gene in 742 fertile woman

目的了解金华地区育龄妇女PAH基因突变携带率,对出生缺陷防控提供参考依据。方法收集2016年10月-2020年9月符合标准的育龄妇女标本742例,用高通量测序技术进行PAH基因突变筛查,对携带相同基因夫妇进行验证。结果742例育龄妇女检测中PAH基因突变携带者阳性16例,分别为c.1315+6T>A 1例、c.1174T>A 1例、c.992T>C 1例、c.827T>A 1例、c.516G>T 1例、c.498C>G 1例、c.464G>A 1例、c.721C>T 3例、c.158G>A 6例,携带率2.16%。并发现一对夫妇携带PAH基因突变分别为c.721C>T(妻子)和c.158G>A(丈夫)。结论早期掌握金华地区育龄妇女PAH基因突变携带谱,为提高诊断策略和解释基因诊断提供了依据,为预测子女患病危险性,构建一级预防筛查体系提供研究数据。

Objective:The aim of this study is to explore the situation of PAH gene mutation in the fertile woman in jinhua city,to establish the PAH gene mutation database in the region,to provide important reference data for genetic counseling and prenatal diagnosis.Methods:From October 2016 to September 2020,742 samples of fertile woman were Carrier Screening using high-throughput sequencing technology,and the positive spouses of carriers were verified.Results:Among the 742 cases of the fertile woman 16 were positive carriers,and the carrier rate was 2.16%.Among them,phenylalanine hydroxylase deficiency gene mutation carry respectively c.1315+6T>A 1 case,c.1174T>A 1 case,c.992T>C 1 case,c.827T>A 1 case,c.516G>T 1 case,c.498C>G 1 case,c.464G>A 1 case,c.721C>T 3 cases,c.158G>A 6 cases;and one pair of couples with different mutation sites of PAH gene were found.Conclusion:Through the carrier screening of metabolic genetic diseases before pregnancy,we can predict the risk of children′s disease,conduct genetic counseling,guide eugenics to play a role,and provide research data for the construction of primary prevention screening system.