摘要
目的:研究中国人冠心病并高同型半胱氨酸血症患者甲硫氨酸合成酶(MS)基因突变的情况。方法:应用聚合酶链反应-单链构象多态性分析(PCR-SSCP)以及DNA测序技术,检测60例患者MS基因中与结构和功能密切相关的10个外显子的点突变情况。结果:除已知的31外显子区3个SNP位点比较常见外,还发现了1个新的点突变,3 869位为A/G杂合子(A→G的错义突变可使1 195位氨基酸由异亮氨酸变为缬氨酸),此患者的血浆同型半胱氨酸血水平明显高于正常,为30.93μmol.L-1。此外发现32内含子1个新的G/T多态性。结论:MS某种基因突变可能是影响MS酶功能及高同型半胱氨酸血症的原因之一。
Objective To investigate the mutation of methionine synthase(MS) gene in Chinese patients with coronary heart disease and hyperhomocysteinemia. Method Polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) and DNA sequencing were used to amplify and analysize 10 exons of MS gene in 60 patients. Results One novel missense mutation(A3869G,that is I1195V)in exon 31 and novel SNP( G to T)in intron 32 were identified. In addition, three nonsense mutation described previously in exon 31 were detected. Conclusion Some mutations of methionine synthase gene probably result in MS disorder and hyperhomocysteinemia.
出处
《东南大学学报(医学版)》
CAS
2008年第1期24-26,共3页
Journal of Southeast University(Medical Science Edition)
基金
国家教委博士点专项基金资助项目(99095)