湖北地区育龄人群中叶酸代谢通路关键酶基因非编码区功能位点的多态性分析  

Functional polymorphism sites in non-coding regions of folate metabolism-related genes in the reproductive-aged population of Hubei Province

作　　者：辜秀丽[1] 贾明珠 李红钢[2] 熊承良[1] GU Xiu-li;JIA Ming-zhu;LI Hong-gang;XIONG Cheng-liang(Center of Reproductive Medicine,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,Hubei 430014,China;Research Institute of Reproductive Health,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,Hubei 430013,China)

机构地区：[1]华中科技大学同济医学院生殖医学中心,湖北武汉430014 [2]华中科技大学同济医学院生殖健康研究所,湖北武汉430013

出　　处：《中华男科学杂志》2021年第11期980-985,共6页National Journal of Andrology

基　　金：湖北省卫生健康科研基金资助(WJ2019H269)。

摘　　要：目的:调查湖北地区育龄汉族人群中叶酸代谢通路关键酶基因非编码区功能位点的多态性分布情况。方法:选取2020年4月至2021年3月于本院进行孕前与孕期检查的790例受检者为研究对象,利用Sanger测序法对MTR基因(rs28372871和rs1131450)、MTRR基因(rs326119)以及CBS基因(rs2850144)的多态性进行检测,并在不同地区人群中比较这四个位点的分布情况。结果:本研究中,rs28372871、rs1131450、rs326119和rs2850144的基因型分布均符合Hardy-Weinberg遗传平衡。rs28372871的多态性分布在湖北地区和江苏地区之间存在着显著差异(P<0.05),rs1131450的多态性分布在湖北地区和上海地区之间存在着显著差异(P<0.05),rs2850144位点的多态性分布在湖北地区和伊朗亚兹德地区之间存在着极显著差异(P<0.001)。结论:首次在湖北地区育龄人群中调研了MTR、MTRR和CBS基因非编码区功能位点的多态性分布情况。实施叶酸增补时应综合考虑叶酸代谢能力相关基因中功能性位点(编码区和非编码区)的影响,从而制订更适宜的增补方案。Objective:To investigate the distribution of the functional polymorphisms in the non-coding regions of folate metabolism-related genes in the reproductive-aged population of Hubei Province.Methods:Using Sanger sequencing,we examined the polymorphisms of the genes MTR(rs28372871 and rs1131450),MTRR(rs326119)and CBS(rs2850144)in 790 subjects before and during pregnancy from April 2020 to March 2021.We compared the distributions of the four loci between different populations.Results:The distributions of the four genotypes of rs28372871,rs1131450,rs326119 and rs2850144 all conformed to the Hardy-Weinberg equilibrium(HWE).Statistically significant differences were observed in the polymorphism distribution of rs28372871 between Hubei and Jiangsu(P<0.05),in that of rs1131450 between Hubei and Shanghai(P<0.05),and in that of rs2850144 between Hubei and Yazd,Iran(P<0.01).Conclusion:This was the first investigation on the distribution of MTR,MTRR and CBS gene polymorphisms in the reproductive-aged population of Hubei Province.The effects of the functional loci in both encoding and non-coding regions of folate metabolism-related genes have to be comprehensively considered so as to formulate an appropriate folate-supplementary protocol.

关 键 词：叶酸代谢 MTR基因 MTRR基因 CBS基因 基因多态性 

分 类 号：R394.5[医药卫生—医学遗传学]