甘肃省围孕期女性环境毒物代谢相关基因位点多态性分析

A polymorphic analysis of gene locus related to the metabolism of environmental toxicants in peripregnanct females in Gansu Province

目的研究甘肃省围孕期女性环境毒物代谢相关基因位点多态性分布特征,筛选基因突变高危人群,制定个性化干预方案。方法纳入1389例于2018年6月-2019年7月行孕前咨询或孕早期初次孕检的女性,对环境毒物代谢酶基因CYP1A1、GSTM1、GSTT1、GSTP1的基因多态性进行检测,并分析甘肃省不同地区、不同民族上述环境毒物代谢相关基因的分布情况。结果CYP1A1 Ile462Val基因位点杂合突变基因型AG频率为34.0%,纯合突变基因型GG频率为5.2%;GSTP1 A313G基因位点杂合突变基因型AG频率为34.1%,纯合突变GG基因型频率为4.6%;GSTM1和GSTT1缺失基因型的频率分别为56.5%、43.3%;同时携带GSTM1和GSTT1缺失基因型频率为23.7%。汉族和少数民族的GSTM1、GSTT1、GSTP1基因型频率分布相似(P>0.05),甘肃省不同地区围孕期女性的GSTM1、GSTT1、GSTP1基因型频率分布相似(P>0.05)。结论甘肃省围孕期女性细胞色素P450基因和谷胱甘肽硫转移酶系相关基因位点突变型或缺失型略高于其他地域研究报道,此类人群对环境毒物易感,出生缺陷发生率高,应进行针对性干预。

Objective To study the distribution characteristics of gene locus polymorphisms related to environmental toxicant metabolism in peri-pregnanct women in Gansu,and to develop individualized clinical intervention programs for screening high-risk populations.Methods Included were 1389 women who chose to receive preconception counseling or had their first antenatal examination between June 2018 and July 2019 at the Gansu Maternal and Child Health Hospital.We tested the genetic polymorphisms of environmental toxinmetabolizing enzyme genes,CYP1A1,GSTM1,GSTT1,GSTP1 and performed a statistical analysis.We also analyzed the distribution of these environmental toxin-metabolizing genes in different regions and ethnic groups of Gansu Province.Results The AG frequency of CYP1A1 Ile462Val genotype was 34.0%,and the GG frequency of homozygous genotype was 5.2%,the frequency of heterozygous mutant(AG)and homozygous mutant(GG)genotypes at GSTP1 A313G locus was 34.1%and 4.6%.The frequency of GSTM1 and GSTT1 missing genotypes were 56.5%and 43.3%,respectively;the frequency of carrying both GSTM1 and GSTT1 deletion genotypesis 23.7%.A comparison of the frequency distribution of GSTM1,GSTT1 and GSTP1 genotypes between the Han nationality and minority nationalities found no statistical difference(P>0.05).Furthermore,the frequency of GSTM1,GSTT1 and GSTP1 genotypes of peri-pregnancy women in different regions of Gansu Province were compared,so was the distribution and there was no statistical difference between the groups(P>0.05).Conclusion The mutations or deletions of cytochrome P450 gene and glutathione sulfur transferase related genes in peri-pregnanct women in Gansu Province were similar or even slightly higher than those of other regions in China.This population was susceptible to environmental toxins and had a low detoxification ability,which could lead to a high incidence of adverse outcomes such as birth defects.Therefore,targeted interventions should be implemented for them.