海南省女性亚甲基四氢叶酸还原酶基因多态性分布特征研究

目的 了解海南省各市、县女性MTHFR基因多态性分布情况，为临床医师指导育龄妇女个体化的叶酸补服方案提供科学依据。方法 以海南省23457例女性为研究对象，利用荧光定量PCR仪对MTHFR677位点的基因多态性进行分型检测，将检测结果与已报道的省份进行比较；运用统计学方法分析MTHFR基因多态性在不同民族与年龄之间的差异。结果 海南省女性TT基因型频率为4.66％(1093/23457)；省内市、县以海口市女性TT基因型频率最高，为6.56％(187/2852)；城市与县城女性TT基因型频率分别为5.11％（733/14356）和4.00％（360/9101），两者比较差异有统计学意义（P＜0.05）；汉族与黎族女性人群TT基因型频率分别为5.52％（962/17428）和1.74％（96/5506），两者比较差异有统计学意义（P ＜0.05）；在年龄分布上， TT基因型发生频率以45岁以上年龄组女性人群最高，为7.61％(29/381)。结论 海南省女性人群MTHFR677位点的TT基因型发生频率处于较低水平，具有区域特异性。

Distribution characteristics of polymorphisms of female methylenetetrahydrofolate reductase gene,Hainan

Objective To understand the distribution of MTHFR gene polymorphisms among women in various cities and counties of Hainan Province, and to provide scientific basis for the clinicians to guide the individualized folic supplementation scheme of women of reproductive age. Methods With 23457 women in Hainan as the study subjects, the gene polymorphism of MTHFR 677 site was detected by fluorescence quantitative PCR, and the results were compared with the reported provinces. The differences of MTHFR gene polymorphism among different nationalities and ages were analyzed by statistical methods. Results The frequency of TT genotype of female in Hainan was 4.66% (1093/23457), and the highest was 6.56% (187/2852) in Haikou City. The frequencies of TT genotype in urban and county women were 5.11% (733/14356) and 4% (360/9101), respectively, and which were 5.52% (962/17428) and 1.74% (96/5506) between the Han and the Li nationality, respectively. The differences were both statistically significant (P<0.05). In the age distribution, the frequency of TT genotype was highest in female group over 45 years old, which was 7.61% (29/381). Conclusion The frequency of TT genotype in the MTHFR677 locus in female population in Hainan is at a low level and has regionally specific.