【作者】 朱文丽； 刀京晶； 成君； 赵如冰； 闫丽颖； 李书琴； 李勇；

【Author】 Zhu Wenli,Dao Jingjing,Cheng Jun,Zhao Rubing,et al. School of Public Health,Peking Univeisity Health Science Center,Beijing 100083,China

【机构】 北京大学医学部公共卫生学院； 中国医科大学附属第二医院；

【摘要】 目的蛋氨酸合酶（MS）是同型半胱氨酸代谢关键酶,旨在了解其与先天性心脏病（CHD）发生的关系。方法选择186名多种类型CHD患者（0～31岁,性别比约为1:1）作为病例组,以同地区且年龄、性别匹配的103名正常人作为对照,进行MS基因A2756G位点多态性分析（PCR-RFLP法）及血清叶酸、维生素B₁₂(VB₁₂)水平的测定（放射免疫法）。结果显示本研究人群中存在MS基因A2756G位点杂合突变（+/-）,但未检出纯合突变（+/+）基因型;其中对照组（+/-）基因型和（+）等位基因的频率分别为10.7%和5.3%,低于报道的白种人及日本人变异频率;病例组（+/-）基因型和（+）等位基因的频率为9.1%和4.6%,与对照组相比其基因型构成差异无显著性;（+/-）基因型罹患CHD的比值比（OR）为0.84（95%可信区间,0.35～2.01）;不同类型CHD与对照组的基因型构成亦无明显差异;此外病例组血清VB₁₂水平低于对照组（336.66pmol/L和465.72pmol/L）,但无统计学意义（P>0.05）;两组的叶酸水平无明显差异;病例组不同基因型叶酸、VB₁₂水平差异亦无显著性。结论 MS基因A2756G位点变异与CHD及血清叶酸、VB₁₂水平无明显关联还有待进步研究。更多还原

【Abstract】 Objective Methionine synthase（MS） is the key enzyme in the homocysteine metabolism.To investigate the relations of MS gene variation with occurrence of congenital heart disease （CHD）.Methods 186 CHD patients（0- 31 years old） were selected as case group and 103 normal ppulation as control.For all subjects the gene polymorphism at MS A2756G locus was analysed by PCR-RFLP method,and the serum folic acid/vitamin B₁₂ levels were detected by radio-immunity assay. Results The heterozygotes（+ / -） were detected in the subjects but without homozygotes（+ / +）. In control group the frequencies of（+ /-） genotype and（+） allele were 10.7%and 5.3%,lower than Caucasian and Japanese ppulation.In case group the frequencies of（+ /-） genotype and（+） allele were 9.1%and 4.6%,without significantly different from control.The odds ratio of（+ /-） genotype was 0.84（0.35,2.01）.The genotype distributions in different types of CHD were also not apparently different with control.The serum vitamin B₁₂ level was decreased in case group compared with control（336.66pmol/L vs 465.72pmol/L,P>0.05）,but the serum folic acid level no different.Also there were not significant difference for folic acid/vitamin B₁₂ levels between different genotypes in case gpoup.Condusion The results indicated that there was not ajparent association between MS gene A2756G locus variation with CHD and seium folic acid/ vitamin B₁₂ levels.It need further investigations.更多还原