中文摘要：

目的利用单体型相对风险分析（HHRR）和连锁不平衡检验（TDT）方法在冠心病血瘀证家系中探讨凝血因子Ⅶ（FⅦ）基因多态性是否为冠心病血瘀证的遗传易患因素。方法2003年10月～2006年11月收集先证者一级亲属中至少有1例冠心病患者的家系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FⅦ基因M1／M2多态性基因座基因型。在对FⅦ基因多态与冠心病血瘀证基因存在关联的基础上进行HHRR和分析。结果CHD家系FⅦ基因的基因型、等位基因均未见偏离Hardy-Weinberg平衡。在HHRR中，FⅦ的M1基因可能与冠心病血瘀证相关联；对13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M1等位基因频率未显著偏离50％。结论在冠心病血瘀证家系中发现FⅦ基因M1／M2多态性与冠心病血瘀证存在关联，但与疾病基因座不存在连锁，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 whether the coagulation factors Ⅶ （FⅦ） gene polymorphism increased the risk of heart blood stasis syndrome（HBSS） in coronary heart disease （CHD） pedigrees by haplotype -based haplotype relative risk （HHRR） and transmission/disequilibrium test（TDT） . Methods： Forty CHD pedigrees with at least one CHD patient in the first degree relatives of probands and ten pedigrees without CHD were collected during Oct. 2003 to Nov. 2006, of which CHD pedigrees with HBSS, parental genotype known of which were 25 and 18 respectively. FⅦ genotype was measured by PCR - RFLP technique. HHRR and TDT were used in base of the result that the polymorphism of FⅦ was associated linked with CHD. Results： There were no significant difference in genotype distribution and allele frequencies of FⅦ gene in Hunan people compared with Chinese people. In HHRR, FⅦ gene M1 allele is associated with HBSS in CHD. In the TDT for 13 nuclear familyies, FⅦ gene M1 allele are not linked with susceptibility location of HBSS in CHD. Conclusions： The Polymorphism of FⅦ Gene is associated with HBSS in CHD pedigrees. FⅦ gene is not linked with susceptibility location of HBSS in CHD of Hunan han nation population.