Analysis of MTHFR and MTRR gene polymorphisms of Han women in 656 cases

XIANG Chang-gang; LU Yan-qiang; MA Shao-jie; XUEYan; XIN Ya-lan; YOU Run-fang; QIN QI; XIE Hong; YANG Qi

doi:10.3969/j.issn.1002-266X.2015.14.007

Abstract：Objective To explore the gene polymorphisms and area distribution of 5,10-methylenetetrahydrofolate re-ductase ( MTHFR) and methionine synthase reductase ( MTRR) involved in the folic acid biosynthetic pathway in women of Han nationality and to provide evidence for the prevention of individual birth defects .Methods A total of 656 cases of o-ral mucosa epithelial cells were recruited from women of Han nationality in Meishan of Sichuan province .The gene polymor-phisms of MTHFR 677 site, 1298 site and MTRR 66 site were analyzed by fluorogenic quantitative PCR , and then were compared with other regions of China ( Jiyuan, Yantai, Qionghai and Yanbian ).The chain and haplotype of MTHFR C677 T and A1298 C were also analyzed .Results Among the Han gestational age women of Meishan , the frequencies of MTHFR 677 genotypes CC, CT and TT were 36.3%, 46%and 17.7%, respectively;and the frequency of MTHFR 677 TT genotype was lower than that of Jiyuan , Yantai and Yanbian (all P<0.05), while higher than that in Jingzhou , Dey-ang, Huizhou and Qionghai (all P<0.05).The frequencies of MTHFR 1298 genotypes AA, AC and CC were 65.2%, 31.3%and 3.5%, repectivly;and the frequency of MTHFR 1298 CC genotype was higher than that in Jiyuan and Yan-Tai, and lower than that in Qionghai (all P<0.05).The frequencies of MTRR 66 genotypes AA, AG and GG were 56.5%, 36.4%and 7.0%; and the frequency of MTRR 66GG genotype was higher than that in Yanbian and Qionghai (all P<0.05).The combinations of MTHFR C677T and A1298C were TA (41.8%), TC (0.2%), CA (39.2%) and CC (18.9%).The complete linkage disequilibrium was found between the two sites (D′=0.977, r2 =0.162).Conclu-sion The frequencies of MTHFR 677TT and 1298CC were high, and the gene polymorphism distribution of MTHFR and MTRR in women of Meishan was statistically different from the other regions of China .