冠心病并高同型半胱氨酸血症患者甲硫氨酸合成酶基因突变的研究-东南大学学报医学版

冠心病并高同型半胱氨酸血症患者甲硫氨酸合成酶基因突变的研究

单位：中国医学科学院阜外心血管病医院,北京,100037

分类号：R541

出版年·卷·期（页码）：2008·27·第一期（24-26）

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30.93 μmol·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.

参考文献：

[1] LECLERC D, CAMPEAU E, GOYETTE P. Human methionine synthase:cDNA cloing and identification of mutations in patients of the cb1G complementation group of folate/cobalamin disorders. 1996(12). doi:10.1093/hmg/5.12.1867
[2] WATLINS D, RU M, HWANG H Y. Hyperhomocysteinemia due to methionine synthase deficiency,cb1G:structure of the MTR gene,genotype diversity,and recognition of a common mutation,P1173L, 2002(1)
[3] 戴崇文, 张广森. 缺血性心、脑血管疾病患者同型半胱氨酸代谢相关酶基因突变频度的研究. 中华血液学杂志2001(9)
[4] ZHU W L, CHENG J, DAO J J. Polymorphism of methionine synthase gene in nuclear families of congenital heart disease. Biomedical and Environmental Sciences2004(1)

服务与反馈：

【文章下载】【发表评论】【查看评论】【加入收藏】

提示：您还未登录，请登录！点此登录