四川仁寿县孕前及孕早期妇女叶酸代谢障碍相关基因位点分布研究

The distribution features of genetic polymorphism of folic acid metabolism in women before pregnancy or in the early period of pregnancy in RenShou County,Sichuan Province

目的调查四川省仁寿县孕前及孕早期女性叶酸代谢障碍相关酶基因(MTHFR和MTRR)多态性的分布特点,为预防出生缺陷提供科学指导。方法以仁寿县2 286例孕前及孕早期女性为研究对象,采用实时荧光定量PCR检测叶酸代谢障碍相关基因位点MTHFR C677T、A1298C和MTRR A66G的基因型,分析数据得出仁寿县妇女该基因的分布特征,并与文献已经报道的其他地区进行统计学分析比较。结果仁寿县女性MTHFR 677TT纯合突变基因型频率为15.00%,低于北方区域(淄博43.60%、郑州36.80%、辽源28.80%),高于南方区域(南宁7.70%、广州7.40%、琼海6.10%),差异有统计学意义(P<0.01)。而与相近区域德阳、郫县差异无统计学意义(P>0.01)。MTHFR 1298CC纯合突变基因型频率为3.00%,与北方区域、南方区域和四川相近区域差异均有统计学意义(P<0.05),且德阳与郫县相比差异有统计学意义(P=0.002),该基因位点可能在四川区域具有更加明显的地域特性。MTHFR A66G纯合突变GG型仅与南方区域相比差异有统计学意义(P<0.01)。结论四川省仁寿县地区女性的叶酸代谢相关基因MTHFR和MTRR的分布具有地域特异性。

Objective To explore the gene polymorphism distribution of enzyme genes associated with folate metabolism disorders （（MTHFR and MTRR） among women before pregnancy or in the early period of pregnancy in Renshou County, Sichuan, and provide scientific guidance for preventing birth defects. Methods A total of 2 286 women before pregnancy or in the early period of pregnancy were selected from Renshou County, fluorescence quantitative PCR was used to analyze MTHFR and MTRR gene polymorphisms, data were statistically analyzed, and compared with those reported in some other regions of China. Results The MTHFR 677TT mutant among women before pregnancy or in the early period of pregnancy in Renshou was 15. 00% , lower than those in northern region （Zibo 43. 60% ,Zhengzhou 36. 80% ,Liaoyuan 28. 80% ） ,and higher than those in southern region （Nanning 7. 70% , Guangzhou 7. 40% ,Qionghai 6. 10% ） （ P 〈0. 01）. There was no statistical significance as compared with the neighbor regions（P 〉 0. 01）. The MTHFR 1 298CC mutant was 3. 00% ,higher than those in northern region and lower than those in southern region （P 〈 0. 01）. The difference between Renshou and neighbor regions was statistically significant. It showed that this gene loci might be of more regional specificity in Sichuan Region. The MTRR 66GG mutant type was statistically significant only in comparison with those in the southern region（P 〈 0. 01） . Conclusion The gene polymorphisms distribution of MTHFR C677T,A1298C and MTRR A66G among women before pregnancy or in the early period of pregnancy in Renshou County, Sichuan has regional specificity.