白银市汉族育龄女性5,10-亚甲基四氢叶酸还原酶和甲硫氨酸合成酶还原酶基因多态性分布情况  

Polymorphism distribution of 5,10-methylene tetrahydrofolate reductase and methylene thiocyanine synthase reductase genes in female of childbearing age of Han in Baiyin City

作　　者：张淑一[1] 张志琴[1] 王秀梅[1] 李娟[1] 蒋亚玲[1] 胡季芳 鲁衍强 杨琦[3] ZHANG Shu-Yi;ZHANG Zhi-Qin;WANG Xiu-Mei(Baiyin Maternal and child Health Care Hospital,Baiyin,Gansu 730999,China)

机构地区：[1]白银市妇幼保健院,甘肃白银730999 [2]上海张江普汇转化医学研究院,上海201318 [3]中国疾病预防控制中心妇幼保健中心,北京100100

出　　处：《中国妇幼保健》2022年第7期1301-1304,共4页Maternal and Child Health Care of China

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(FY-ZX-ZD-04111)。

摘　　要：目的调查研究白银市汉族女性叶酸代谢关键酶5,10-亚甲基四氢叶酸还原酶(MTHFR)和甲硫氨酸合成酶还原酶(MTRR)的基因多态性分布特征。方法选取2017—2020年在白银市妇幼保健院进行孕期保健的331例汉族健康女性为研究对象,采集口腔黏膜上皮细胞,提取基因组DNA,通过荧光定量PCR分型检测MTHFR C677T、A1298C及MTRR A66G基因位点情况,并进行分析。结果入组对象的基因多态性分布符合遗传平衡。汉族女性MTHFR 677CC、CT及TT的基因型频率分别为27.5%、45.0%及27.5%,C、T等位基因频率分别为50.0%、50.0%;MTHFR 1298AA、AC及CC的基因型频率分别为71.0%、26.6%及2.4%,A、C等位基因频率分别为84.3%、15.7%;MTRR 66AA、AG及GG的基因型频率分别为56.5%、38.4%及5.1%,A、G等位基因频率分别为75.7%、24.3%。汉族女性MTHFR C677T和A1298C两位点连锁有6种组合,频率最高的是CT/AA(31.4%),没有CT/CC、TT/AC及TT/CC组合。两位点间存在完全连锁不平衡(D’=1.0,r^(2)=0.186)。结论获取白银市汉族女性MTHFR和MTRR基因多态性的群体遗传学特征,其中关键基因位点MTHFR C677T的高风险TT基因型比例为27.5%,低于已报道的山东淄博、河南新乡等地,高于新疆阿克苏、浙江丽水及广东佛山等地,说明叶酸利用能力中等,对于高风险人群应加强孕期管理,同时此研究也可为白银地区育龄女性进行个体化增补叶酸提供理论依据。Objective To conduct a molecular epidemiological survey of Han women in Baiyin city to study the genetic polymorphism distribution of key enzymes of folate metabolism 5,10-methylene tetrahydrofolate reductase(MTHFR)and methylene thiocyanine synthase(MTRR).Methods Taking 331 healthy women of Han nationality during pregnancy as the research object,collecting oral mucosal epithelial exfoliated cells,extracting genomic DNA,using fluorescent quantitative PCR method to detect MTHFR C677 T,A1298 C and MTRR A66 G gene polymorphism.Besides,statistical analysis was conducted.Results The genetic polymorphism distribution of the enrolled objects was in accordance with genetic balance.The genotype frequencies of MTHFR 677 CC,CT and TT in Han women were 27.5%,45.0%,and 27.5%,and the allelic frequencies of C and T were 50.0%and 50.0%,respectively.The genotype frequencies of MTHFR 1298 AA,AC,and CC were 71.0%,26.6%and 2.4%.The allelic frequencies of A and C were 84.3%and 15.7%.For MTRR,the genotype frequencies of 66 AA,AG and GG were 56.5%,38.4%and 5.1%.The allelic frequencies of A and C were 75.7%and 24.3%.There were 6 combinations of MTHFR C677 T and A1298 C in Han women.The highest frequency was CT/AA(31.4%),and there were no CT/CC,TT/AC and TT/CC combinations.There was a complete linkage disequilibrium between the two points(D’=1.0,r^(2)=0.186).Conclusion The population genetic characteristics of MTHFR and MTRR gene polymorphisms of Han women in Baiyin City were obtained.Among them,the proportion of high-risk TT genotypes of MTHFR C677 T at key gene locus was 27.5%,which was lower than that reported in Zibo Shandong,Xinxiang Henan,Aksu Xinjiang,Lishui Zhejiang,Foshan Guangzhou and other cities in China.It shows that the folic acid utilization capacity is moderate,and high-risk groups need to strengthen pregnancy management.At the same time,this study also provides a theoretical basis for individual folic acid supplementation for women of childbearing age in Baiyin.

关 键 词：基因多态性 5 10-亚甲基四氢叶酸还原酶 甲硫氨酸合成酶还原酶 

分 类 号：R173[医药卫生—妇幼卫生保健]