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目的:研究中国人冠状动脉痉挛患者一氧化氮合酶(NOS3)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NOS3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NOS3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NOS3基因同义突变位点(C1998G)可能与冠状动脉痉挛的发病相关。
Objective: To investigate the mutation of nitric oxide synthase (NOS3) gene in Chinese patients with coronary artery spasm. Methods: All 27 exons of NOS3 gene were amplified by polymerase chain reaction (PCR) in 9 patients with coronary artery spasm. The PCR products were sequenced. RESULTS: There were 4 synonymous mutations in the same site of NOS3 gene in coronary spasm group. The C mutation located at the 1998 nucleotide position of exon 17 was G (C1998G) The codon GCC changed to GCG, and the amino acids encoded did not change, and remained alanine (A), of which 3 were heterozygous (C / G) and 1 was homozygous (G / G), and the remaining patients And healthy people did not find these mutations and known mutations. Conclusion: The synonymous mutation of NOS3 gene (C1998G) found in patients with coronary artery spasm may be related to the pathogenesis of coronary artery spasm.