青海地区育龄女性MTHFR基因C677位点的多态性研究

Study on the Polymorphism Distribution of MTHFR Gene C677 in Women of Childbearing Age in Qinghai

目的分析青海地区育龄女性叶酸代谢关键酶5,10亚甲基四氢叶酸还原酶(methylene tetra hydro folate reductase,MTHFR)基因C677多态性的分布特点,指导育龄女性合理补充叶酸。方法实时荧光定量PCR检测技术分析叶酸代谢相关酶基因MTHFR位点C677的多态性。结果青海地区孕前及孕早期女性TT纯合突变基因型频率(20.72%)与不孕症女性(18.68%)差异无统计学意义(χ^(2)=2.52,P>0.05)。青海地区汉族女性MTHFR位点纯合突变基因型TT频率(20.70%)同青海地区藏族女性TT纯合基因型频率(11.65%)差异有统计学意义(χ^(2)=25.06,P<0.05),而与回族(19.91%)和土族(20.72%)差异无统计学意义(χ^(2)=1.56,1.14,均P>0.05)。青海地区汉族女性TT纯合基因型频率(20.70%)与西藏汉族女性(20.43%)差异无统计学意义(χ^(2)=0.86,P>0.05),与低海拔地区[辽源(28.76%)、淄博(43.61%)、郑州(36.78%)、南宁(7.71%)、佛山(27.70%)和琼海(6.14%)]差异均有统计学意义(χ^(2)=20.58~493,均P<0.05)。结论青海地区育龄女性的叶酸代谢相关基因MTHFR的分布具有海拔特异性及民族特异性,且孕前及孕早期女性与不孕症女性无相关性(P>0.05)。

Objective To analyze the distribution characteristics of C677 polymorphism of MTHFR gene in women of childbearing age in Qinghai Province,and guide women of childbearing age to supplement folic acid reasonably.Methods The MTHFR C677 gene polymorphism was detected by real-time fluorescent quantitative PCR.Results The frequency of TT homozygous mutation genotype in pre pregnancy and early pregnancy women(20.72%),which was not significantly different from that in infertile women(18.68%)(χ^(2)=2.52,P>0.05).The TT frequency of MTHFR homozygous mutation genotype was(20.70%)in Qinghai Han women,which was significant statistical differences with Tibetan women(11.65%)in this area(χ^(2)=25.06,P<0.05),but no significant difference with Hui(19.91%)and Tu(20.72%)nationality(χ^(2)=1.56,1.14,all P>0.05).There was no significant difference with the Tibetan Han women(20.43%)of high altitude area(χ^(2)=0.86,P>0.05),but it was statistically significant with low altitude areas[Liaoyuan(28.76%),Zibo(43.61%),Zhengzhou(36.78%),Nanning(7.71%),Foshan(27.70%)and Qionghai(6.14%)](χ^(2)=20.58~493,all P<0.05).Conclusion The distribution of MTHFR gene related to folic acid metabolism in women of childbearing age in Qinghai province had national specificity in plateau area,and there was no correlation between women infertile women with before pregnancy women and in early pregnancy women in local area(P>0.05).