阳江地区育龄期女性叶酸代谢的基因检测研究  

Gene Testing of Folate Metabolism in Women of Childbearing Age in Yangjiang Region

作　　者：李桦 LI Hua(yangjiang maternal and child health hospital clinical laboratory,Yangjiang,Guangdong 529500)

机构地区：[1]阳江市妇幼保健院检验科,广东阳江529500

出　　处：《智慧健康》2024年第36期11-13,共3页Smart Healthcare

摘　　要：目的探讨阳江地区育龄期女性叶酸代谢的基因检测结果。方法以本院2019年12月—2024年6月采集到的育龄期女性12141例资料作为研究对象,对所有研究对象进行血夜采集,提取细胞基因组DNA,对5,10-亚甲基四氢叶酸还原酶(MTHFR)、甲硫氨酸合成还原酶(MTRR)的基因点位进行科学检测,分析MTHFR基因A1298C位点、MTHFR基因C677T位点、MTRR基因A66G位点的分布特征,对其叶酸代谢情况进行全面分析。结果12141例女性中,未发现叶酸代谢能力风险的女性有4051例(33.37%),有叶酸代谢风险女性8090例(66.63%);12141例女性受检者MTHER基因A1298C位点AA未发现突变6991例,AC杂合突变型4438例,CC纯合突变型712例;MTHFR基因C677T位点CC未发现突变7542例,CT杂合突变型3994例,TT纯合突变型605例;MTRR基因A66G位点AA未发现突变6276例,AG杂合突变型4882例,GG纯合突变型983例。结论阳江地区有叶酸代谢风险基因的育龄期女性比较多,可通过基因多态性检测手段,及时发现其叶酸代谢异常问题,为其合理补充叶酸提供依据。Objective To explore the genetic test results of folate metabolism in women of childbearing age in Yangjiang region.Methods The data of 12141 women of reproductive age collected from December 2019 to June 2024 were collected from blood and genomic DNA of methylreductase(MTHFR)and methionine synthetic reductase(MTRR),including MTHFR gene,C677T site of MTHFR gene and A66G site of MTRR gene.Results Among the 12,141 women in this group,40513(33.37%),8090(66.63%)women at risk of folic acid metabolism;1214 No female mutation of the MTHER gene A1298C AA 6991 mutations,4438 cases with AC heterozygous mutant type,712 cases of CC homozygous mutant type;No mutations at C677T CC in MTHFR gene 7542,3994 CT heterozygous mutant type,605 cases of TT homozygous mutant type;A66G AA in MTRR gene 6276,4882 AG heterozygous mutant type,983 patients had homozygous GG.Conclusion There are more women in childbearing age with folic acid metabolism risk genes in Yangjiang region,and their abnormal folic acid metabolism can be found in time through gene polymorphism detection to provide a basis for their reasonable supplement of folic acid.

关 键 词：阳江 育龄期 女性 叶酸 代谢 基因检测 

分 类 号：R73[医药卫生—肿瘤]