论文部分内容阅读
目的:研究叶酸代谢障碍关键酶基因5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C位点基因多态性与血清同型半胱氨酸(HCY)的相关性。方法:随机以贵州省思南县2 188例女性为研究对象,检测其MTHFR C677T、A1298C基因位点多态性,采用统计学方法分析该地区基因的多态性分布特征,并与其他同等级区域人群既有数据比对分析;对其中276例孕期女性,测定血清HCY浓度,分析该指标与遗传因素的相关性。结果:本县的汉族、苗族、土家族女性MTHFR C677T、A1298C位点基因型及等位基因分布情况差异无统计学意义(P>0.05)。本地区汉族女性MTHFR 677TT基因型频率(14.9%)显著低于尚志、三河、寿光、张家港等地人群(P<0.05),显著高于陵水县人群(P<0.05);与郫县人群数据差异无统计学意义(P>0.05)。MTHFR 1298CC基因型频率(4.2%)与郫县人群无统计学差异(P>0.05),与其他各地区人群均有统计学差异(P<0.05)。血清HCY水平在C677T位点3种基因型间有统计学差异(P<0.05),而A1298C位点3种基因型间无统计学差异(P>0.05)。结论:本县汉族女性MTHFR基因C677T、A1298C位点多态性分布特征有其自身的特点;C677T位点的多态性变化对血清HCY水平有显著影响。
Objective: To study the relationship between polymorphism of C677T and A1298C polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR) and serum homocysteine (HCY), a key enzyme of folic acid metabolism disorder. Methods: A total of 2 188 women in Sinan County of Guizhou Province were randomly divided into two groups. MTHFR C677T and A1298C polymorphisms were detected. The distribution of polymorphisms in the region was analyzed by statistical methods. In the 276 pregnant women, serum HCY concentration was measured and the correlation between the index and genetic factors was analyzed. Results: There were no significant differences in the distribution of genotypes and alleles of MTHFR C677T and A1298C among Han, Miao and Tujia women in this county (P> 0.05). The frequency of MTHFR 677TT genotype (14.9%) was significantly lower in Han women than in Shangzhi, Sanhe, Shouguang and Zhangjiagang areas (P <0.05), and significantly higher than that in Lingshui (P <0.05) The difference was not statistically significant (P> 0.05). The genotype frequency of MTHFR 1298CC (4.2%) was not significantly different from that of Shexian population (P> 0.05), but significantly different from other regions (P <0.05). Serum HCY levels were statistically different between the three genotypes of C677T (P <0.05), but no significant difference was found among the three genotypes of A1298C (P> 0.05). CONCLUSION: The polymorphism distributions of MTHFR gene C677T and A1298C in Han women of this county have their own characteristics. The polymorphism of C677T gene has a significant effect on serum HCY levels.