重庆市潼南区汉族育龄女性叶酸代谢通路关键酶基因多态性调查  

The distribution features of gene polymorphisms of key enzymes in folate metabolism pathway in Han females in Tongnan District of Chongqing

作　　者：张明镜 鲁衍强 姜力源 蹇文静 汤萍 杨琦[3] ZHANG Ming-jing;LU Yan-qiang;JIANG Li-yuan;JIAN Wen-jing;TANG Ping;YANG Qi(Prefecture Maternal and Child Health Care Hospital of Tongnan Districts Chongqing,402660;Shanghai Zhangjiang Puhui Translational Medicine Research Institute,Shanghai,201210;National Center for Women and Children's Health Care China CDC,Beijing,100101)

机构地区：[1]潼南区妇幼保健计划生育服务中心,重庆402660 [2]上海张江普汇转化医学研究院,上海201210 [3]中国疾病预防控制中心妇幼保健中心,北京100101

出　　处：《中国优生与遗传杂志》2019年第11期1307-1310,共4页Chinese Journal of Birth Health & Heredity

基　　金：中国疾病预防控制中心妇幼保健中心妇幼保健分子遗传医学研究专项计划(项目编号:FY-ZX-ZD-376)

摘　　要：目的调查重庆市潼南区育龄女性叶酸代谢通路关键酶基因多态性。方法采用横断面调查研究方法,以到潼南区妇幼保健计划生育服务中心做孕检的951名汉族女性为研究对象。采集口腔黏膜上皮细胞,提取基因组DNA,采用Taqman-MGB技术,进行MTHFR和MTRR基因多态性检测。统计分析本地区基因多态性的分布特征,并与已报道地区进行比较,为进一步降低出生缺陷及孕产妇疾病提供分子医学理论依据。结果潼南区汉族女性的MTHFRC677T、A1298C,MTRRA66G基因型、等位基因型频率分布与新疆维吾尔自治区塔城市、云南省保山市、广西壮族自治区德保县、广东省阳江市、海南省琼海市比较,差异有统计学意义(P<0.05),MTHFRC677T、A1298C基因型频率和等位基因频率分布与河北省廊坊市、内蒙古阿荣旗、河南省济源市、江苏省镇江市等比较,差异有统计学意义(P<0.05)。MTHFRC677T、A1298C基因型频率与贵州省福泉市、湖北省宜都市、湖南省湘潭市比较,差异无统计学意义(P>0.05)。结论潼南区汉族女性的MTHFR、MTRR基因频率分布有自身特点。Objective:To investigate the gene polymorphism of key enzymes in folate metabolism pathway of childbearing women in Tongnan District of Chongqing City.Method:A total of 951 Han women were recruited.And their oral epithelial cells were collected to extract genome DNA in order to detect gene polymorphisms of MTHFR and MTRR using fluorescence quantitative PCR.Results:The frequency of MTHFR C677 T,A1298 C and MTRR A66 G genotypes and alleles among Han women in Tongnan district is significantly different to that of Tacheng City of Xinjiang Province,Baoshan City of Yunnan Province,Debaao County of Guangxi District,Yangjiang City of Guangdong Province,Qionghai City of Hainan Province(P<0.05).The frequency of MTHFR C677 T,A1298 C and MTRR A66 G genotypes and alleles among Han women in Tongnan district is significantly different to that of Langfang city of Hebei Province,Arong County of Inner Mongolia,Jiyuan City of Henan Province,Zhenjiang City of Jiangsu Province(P<0.05).The frequency of MTHFR C677 T,A1298 C genotypes and alleles among Han women in Tongnan district is not significantly different from that of Fuquan City of Guizhou Province,Yidu County of Hubei Province,or Xiangtan City of Hunan province(P>0.05).Counclusion:The MTHFR,MTRR polymorphism distribution of Han women in Tongnan district is regional specific,respectively.

关 键 词：叶酸代谢通路 基因多态性 潼南 

分 类 号：R394[医药卫生—医学遗传学]