贵州省荔波县汉族和布依族女性MTHFR与MTRR多态性的分布

Distribution of MTHFR and MTRR polymorphisms in Han and Buyi women at Libo county of Guizhou province

目的针对贵州省荔波县汉族和布依族女性开展分子流行病学调查,研究叶酸代谢关键酶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。方法以在荔波县人民医院进行围孕期保健的1342名健康女性为研究对象,其中汉族236人、布依族1106人。采集口腔黏膜上皮脱落细胞,抽提基因组DNA,使用荧光定量PCR检测MTHFR C677T、A1298C和MTRR A66G基因多态性,进行统计分析。结果1)入组对象的基因多态性分布符合遗传平衡。2)汉族女性MTHFR 677CC、CT和TT的基因型频率分别为49.6%、39.8%和10.6%,布依族女性为61.8%、33.7%和4.4%;汉族女性MTHFR 1298AA、AC和CC的基因型频率分别为62.3%、33.1%和4.7%,布依族女性为47.4%、42.9%和9.7%,两位点均有差异(P<0.05)。汉族女性MTRR 66AA、AG和GG的基因型频率分别为56.4%、37.4%和5.9%,布依族女性为57.0%、36.0%和7.1%,差异无统计学意义。3)汉族和布依族女性MTHFR C677T与A1298C两位点连锁均有6种组合,没有CT/CC、TT/AC和TT/CC。汉族女性频率最高的是CT/AA,布依族女性频率最高的是CC/AC。两个位点构建的单倍型存在CA、TA和CC 3种组合,两位点间存在完全连锁不平衡。结论获取荔波县汉族和布依族女性MTHFR与MTRR多态性的群体遗传学特征,为指导科学增补叶酸营养、实施个性化孕期保健提供依据。

Objective To conduct molecular epidemiological investigations on Han and Buyi women at Libo county of Guizhou province aiming for the identification of genetic polymorphisms coding the key enzymes for folate metabolism MTHFR and MTRR.Methods A total of 1342 healthy women who received perinatal health care at the People's Hospital of Libo county were recruited,including 236 Han people and 1106 Buyi people.Oral mucosal epithelial exfoliated cells were collected for genomic DNA extraction,MTHFR C677T,A1298C,and MTRR A66G gene polymorphisms were examined with quantitative PCR for statistical analysis.Results1)The genetic polymorphism distribution of the subjects was in line with genetic balance.2)The genotype frequency of MTHFR 677CC,CT,and TT of Han women was 49.6%,39.8%,and 10.6%respectively,and thatof Buyi women were 61.8%,33.7%and 4.4%.The frequencies were 62.3%,33.1%,4.7%,and Buyi females were 47.4%,42.9%,and 9.7%,both points are significantly different(P<0.05).The genotype frequencies of MTRR 66AA,AG,and GG of Han women were 56.4%,37.4%,and 5.9%,respectively,and that of Buyi women were 57.0%,36.0%,and 7.1%,with no difference.3)Han and Buyi women MTHFR C677T and A1298C had 6 combinations of two-point linkage without CT/CC,TT/AC and TT/CC.The highest frequency of Han women was CT/AA,and the highest frequency of Buyi women was CC/AC.The haplotype constructed by the two loci had three combinations of CA,TA,and CC,and there was a complete linkage disequilibrium between the two loci.Conclusions The genetic characterization of MTHFR and MTRR polymorphisms in Han and Buyi women at Libo county provides a basis for guiding folic acid supplementation and implementation of personalized pregnancy health care.