Zhou Bo, Gao Chengzhen, Chen Lirong, Wang Yumei, Zhang Shufang, Hou Chao, An Xiangyang
Postdoctoral Workstation, The Affiliated Tai'an City Central Hospital of Qingdao University, Tai'an, Shandong, China.
School of Medical Equipment, Shenyang Pharmaceutical University, Shenyang, Liaoning, China.
Int J Genomics. 2025 Jul 13;2025:8889232. doi: 10.1155/ijog/8889232. eCollection 2025.
The objective was to explore the distribution characteristics of methylenetetrahydrofolate reductase 677C > T and 1298A > C gene polymorphisms among women of childbearing age in the Tai'an area. A total of 243 women of childbearing age, the age ranged from 20 to 46 years, with a mean age of 31.0 ± 5.1 years, attending the Eugenics Clinic of Tai'an City Central Hospital between January 2018 and April 2019 were selected. The 677C > T and 1298A > C gene polymorphisms were determined by fluorescence in situ hybridization. Among 243 women of childbearing age, the 677C > T genotype frequencies of CC, CT, and TT were 14.4%, 44.9%, and 40.7%, respectively, and the C and T Allele frequencies were 36.8% and 63.2%, respectively. The 1298A > C genotype frequencies of AA, AC, and CC were 77.0%, 21.0%, and 2.0%, respectively. The A and C allele frequencies were 87.4% and 12.6%, respectively. The proportions of CC/AA, CC/AC, CC/CC, CT/AA, CT/AC, TT/AA, and TT/AC were 6.6%, 5.8%, 2.0%, 30.5%, 14.4%, 39.9%, and 0.8%. The proportion of women at moderate or severe risk of folic acid metabolism reached 87.6%. The 677C > T gene mutation rate has obvious regional characteristics. The 677C > T and 1298A > C gene polymorphisms in Tai'an were obvious. About 87.6% of women of childbearing age were at medium or high risk of folic acid utilization.
目的是探讨泰安地区育龄妇女亚甲基四氢叶酸还原酶677C>T和1298A>C基因多态性的分布特征。选取2018年1月至2019年4月期间在泰安市中心医院优生门诊就诊的243名育龄妇女,年龄范围为20至46岁,平均年龄为31.0±5.1岁。采用荧光原位杂交法检测677C>T和1298A>C基因多态性。在243名育龄妇女中,CC、CT和TT的677C>T基因型频率分别为14.4%、44.9%和40.7%,C和T等位基因频率分别为36.8%和63.2%。AA、AC和CC的1298A>C基因型频率分别为77.0%、21.0%和2.0%。A和C等位基因频率分别为87.4%和12.6%。CC/AA、CC/AC、CC/CC、CT/AA、CT/AC、TT/AA和TT/AC的比例分别为6.6%、5.8%、2.0%、30.5%、14.4%、39.9%和0.8%。叶酸代谢处于中度或重度风险的妇女比例达到87.6%。677C>T基因突变率具有明显的地域特征。泰安的677C>T和1298A>C基因多态性明显。约87.6%的育龄妇女叶酸利用处于中高风险。