【摘要】 目的　探讨 MTHFD基因多态性在先天性心脏病 (CHD)遗传易感性中的作用。方法　选择辽宁省 179例 CHD患者及其父母作为病例组 ,同一地区年龄、性别匹配的 12 2名正常人及其父母作为对照组 ,采用 PCR- RFL P方法检测其 MTHFD基因型 ,放射免疫法和荧光偏振免疫法测定血清叶酸和同型半胱氨酸 (Hcy)水平 ,比较两组差异 ,并进行 CHD核心家庭分析。结果　中国北方正常人群中 ,存在着该位点的基因多态性 ,GG、GA和 AA基因型频率分别为 5 7.98%、35 .5 7%和6 .4 5 % ,A等位基因频率为 2 4 .2 3% ,与西方人群有差异 ;CHD患者总体和分类型的基因型频率和等位基因频率与对照组相比差异无显著性 ;遗传失衡检验分析结果表明 ,MTHFD G195 8A位点在CHD核心家庭中不存在传递失衡现象 ;CHD患者血清叶酸水平高于对照组 ,Hcy水平与对照组相比差异无显著性。结论　 MTHFD G195 8A位点基因多态性可能不是 CHD的遗传易感因素更多还原

【Abstract】 Objective To study the effect of MTHFD G1958A gene polymorphism on genetic susceptibility of CHD. Methods 179 patients with CHD and their biological parents in Liaoning province were included in this study as case group, while 122 healthy subjects (age and gender matched) and their biological parents were simultaneously selected from the same geographic area as control group. To all subjects, the gene polymorphism of MTHFD G1958A locus was examined with PCR-RFLP, and serum folic acid and homocysteine (Hcy) level with radio-immunoassay and fluorescence polarization immunoassay (FPIA). The difference between two groups was studied and analysis of genetic transmission was carried out in CHD nuclear families. Results There existed gene polymorphism at MTHFD G1958A locus in the healthy population in North China, and percentage of GG, GA and AA genotype were 57.98%, 35.57% and 6.45% respectively, with A allele frequency being 24.23%, which was significantly different from the western population. No difference was observed in total and CHD type-dependent genotype distribution and allele frequency between patients and control. The analysis of genetic transmission indicated that there existed no transmission disequillibrium in CHD nuclear families. Serum folic acid of patients was higher than that of control, but no statistical significance at Hcy level. Conclusions MTHFD G1958A locus gene polymorphim may not be the genetic factor of CHD.更多还原