冠状动脉痉挛相关基因NOS3同义突变位点鉴定研究

摘要

Objective:To study the mutation of NOS3 gene among the patients with coronary artery spasm.Methods:9 coronary artery spasm patients and 10 healthy control were included in the present study.Pe-ripheral blood was sampled and genomic DNA was extracted,polymerase chain reaction(PCR)and DNA sequencing was used to screen all the 27 exons of NOS3 gene.Results:A novel synonymous mutation was found in the NOS3 gene of 4 patients,which was located in the 1998 site of the 17thexon(C1998G).3 of them were C/G heterozygous mutation and 1 of them was G/G homozygous mutation.Conclusions:A novel synonymous mutation(C1998G)is found in the NOS3 gene of 4 patients,which may be correlated with coronary artery spasm.%目的:研究中国人冠状动脉痉挛患者一氧化氮合酶(N OS3)基因突变位点.方法:采用聚合酶链反应对9例冠状动脉痉挛的患者N OS3基因全部27个外显子进行扩增,对PCR产物进行基因测序.结果:冠状动脉痉挛组中共有4例存在N OS3基因同一位点的同义突变,位于第17外显子的第1998核苷酸位点处的C突变为G(C1998G),使第666位的密码子GCC变为GCG,所编码的氨基酸并未发生改变,仍为丙氨酸(A),其中3例为杂合子(C/G),1例为纯合子(G/G),其余患者及健康人群组均未发现上述突变及已知突变.结论:冠状动脉痉挛患者中发现的N OS3基因同义突变位点(C1998G)可能与冠状动脉痉挛的发病相关.