葡萄糖-6-磷酸脱氢酶活性缺乏及基因突变与自然流产的关联研究  

The study on the association between G6PD deficiency and gene mutations with spontaneous abortion

作　　者：樊祖茜 黄国盛 黄永霞 孙雷 FAN Zuqian;HUANG Guosheng;HUANG Yongxia;SUN Lei(Laboratory of Medical Genetics,Qinzhou Maternal and Child Health Hospital,Qinzhou,Guangxi 535000,China;Department of Pediatrics,Qinzhou Maternal and Child Health Hospital,Qinzhou,Guangxi 535000,China;Xi’an Jiaotong University of Health Science Center,Xi’an,Shaanxi 710061,China)

机构地区：[1]钦州市妇幼保健院检验科,广西钦州535000 [2]钦州市妇幼保健院儿科,广西钦州535000 [3]西安交通大学医学部,陕西西安710061

出　　处：《中国优生与遗传杂志》2024年第9期1847-1850,共4页Chinese Journal of Birth Health & Heredity

基　　金：钦州市科学研究与技术开发计划项目(20232538);国家自然科学基金(81660259)。

摘　　要：目的通过比较自然流产患者和正常妊娠人群葡萄糖-6-磷酸脱氢酶(G6PD)活性差异,以及流产物和正常成年人的G6PD基因突变情况,探讨G6PD活性缺乏及基因突变与自然流产的关系。方法回顾性分析2020年1月至2023年6月,本单位共3594例先兆流产、早孕、中晚孕及401例流产患者的G6PD活性数据,进行统计学差异分析;采用60例流产组织和87例正常对照个体的全外显子组测序数据,进行G6PD基因变异的差异分析。结果自然流产组与早孕组、中晚孕组和先兆流产组的G6PD活性差异均无统计学意义;流产物与正常成年人的G6PD基因变异差异也无统计学意义。结论自然流产患者自身G6PD活性缺乏以及流产胎儿的G6PD基因突变并非是导致自然流产的直接原因,相关研究有助于临床排除自然流产的遗传学病因。Objective The purpose of this study is to investigate the relationship between G6PD enzyme activity deficiency and gene mutations with spontaneous abortion by comparing the differences in G6PD enzyme activity between miscarriage patients and normal pregnant women,as well as the G6PD gene mutation status between miscarriage products and normal adults.Methods A retrospective analysis was conducted on the G6PD enzyme activity data of 3594 cases of early pregnancy,middle and late pregnancy,and 401 cases of miscarriage patients in our unit from January 2020 to June 2023,and statistical differences were analyzed.Differential analysis of gene variation in G6PD using whole exome sequencing data from 60 miscarriages and 87 normal adults.Results The differences in G6PD enzyme activity between the spontaneous abortion group and the early pregnancy group,the middle-late pregnancy group,and the threatened abortion group were not significant.Similarly,there were no significant differences in G6PD gene variation between miscarriage products and normal adults.Conclusion The deficiency in G6PD enzyme activity in spontaneous abortion patients and the G6PD gene mutations in miscarriage fetuses are not direct causes of spontaneous abortion.Relevant research can help clinically exclude the genetic etiology of spontaneous abortion.

关 键 词：G6PD 基因突变 流产 全外显子组测序 

分 类 号：R714.21[医药卫生—妇产科学]