亚甲基四氢叶酸还原酶基因C677T突变与冠心病的连锁分析

Study on the relationship between methylenetetrahydrofolate reductase gene C677T mutation and coronary heart disease

目的 探讨亚甲基四氢叶酸还原酶 (methylenetetrahydrofolate reductase,MTHFR)基因C6 77T突变是否与冠心病连锁。方法 应用传递不平衡检验 (transmission/ disequilibrium test,TDT)分析了先证者一级亲属中至少有 1例冠心病患者的冠心病家系 45个 ,调查了 2 12人。其中完整核心家系、父母一方、双方基因型缺失家系分别为 2 1、2和 2 2个。PCR- RFL P鉴定 MTHFR基因 C6 77T位点基因型。结果 2 3个核心家系经经典 TDT分析 ,杂合子父母传递给患病子女的 T等位基因频率未显著偏离 5 0 % (P>0 .0 5 ) ;对 40个符号要求的同胞组资料的同胞传递不平衡检验 (sib transmission/ desequilibrium test,STDT)和同胞组不平衡检验 (sibship disequilibruium test,SDT)检验均未发现受累子代与非受累子代 T等位基因分布差异有显著性 (P>0 .0 5 )。结论 MTHFR基因 C6 77T突变与冠心病不连锁 ,提示该位点可能不是中国人冠心病的遗传易患因子之一。

Objective To investigate whether methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism is linked with coronary heart disease (CHD). Methods Transmission/disequilibrium test (TDT), sib transmission/disequilibrium test (STDT), and sibship disequilibrium test (SDT) were used. Forty-five CHD pedigrees with at least one CHD patient in the first degree relatives of probands were recruited from Oct. 1998 to Feb. 1999. Among those recruited were 21, 2 and 22 pedigrees with the genotypes of both parents known, one parental genotype unknown and both unknown, respectively. MTHFR genotype was measured by PCR-RFLP technique. Results Neither the TDT for 23 nuclear families with at least one parental genotype known or the STDT and SDT for 40 sibships found significant difference between the transmitted and untransmitted MTHFR gene 677T allele distributions. Conclusion The above results suggest that MTHFR gene 677T allele is probably not linked with CHD in Chinese population.