中文摘要：

目的用单体型相对风险分析（HHRR）和连锁不平衡检验（TDT）方法在冠心病（CHD）血瘀证家系中探讨血管紧张素转换酶（ACE）基因内含子16中的插入/缺失（I/D）多态是否为冠心病血瘀证的遗传易患因素。方法2003年10月—2005年11月收集先证一级亲属中至少有1例冠心病病人的家系40个和健康人家系10个,属CHD血瘀证家系组25个家系81例,其中核心家系18个共60例。PCR-RFLP方法鉴定ACE基因I/D多态性基因座基因型。在对ACE基因多态与冠心病血瘀证基因存在关联的基础上进行HHRR和TDT分析。结果CHD家系ACE基因的基因型、等位基因都没有偏离Hardy-Weinberg平衡。在HHRR中,ACE的D基因与冠心病血瘀证无关联（P〉0.05）;对15个满足要求的核心家系进行TDT检验,杂合子父母传递给患病子代的D等位基因频率未显著偏离50%（P〉0.05）。结论在冠心病血瘀证家系中未发现ACE基因I/D多态与冠心病血瘀证存在关联或与疾病基因座存在连锁,说明该基因座可能不是湖南汉族人群冠心病血瘀证的遗传易患基因,而是冠心病血瘀证的发病危险因素之一。

英文摘要：

Objective To investigate if the insertlon/deletion polymorphism of the angiotensin- converting enzyme （ACE） gene would increase the risk of heart blood stasis syndrome （HBSS） in coronary heart disease （CHD） by pedigrees. Methods Forty CHD by pedigrees with at least one patient with CHD in the first degree relatives of probands and ten pedigrees without CHD were collected, of which CHD pedigrees with HBSS, parental genotype were 25 and 18 respectively. ACE genotype was measured by PCR- RFLP technique. HHRR and TDT were used based on the result that the polymorphism of ACE was associated linked with CHD. Results There were no significant difference in genotype distribution and allele frequencies of ACE gene in Hunan people compared with Chinese people. In HHRR, ACE gene D allele was not associated with HBSS in CHD（ P 〉0.05 ）. In the TDT for 15 nuclear familyies, ACE gene D allele were not linked with sus, ceptibility location of HRSS in CHD（ P 〉 0.05 ）. Conclusion The insertion/deletion polymorphism of ACE gene was not associated with HBSS in CHD pedigrees. ACE gene was not linked with susceptibility location of HBSS in Hunan Han nation population with CHD.