血小板膜糖蛋白ⅰbα基因多态性与血栓性疾病相关性的分析-association between platelet membrane glycoprotein ⅰ b α gene polymorphism and thrombotic diseases.docxVIP

组相比，Kozak 序列-5 T/C 基因多态性基因型的差异无统计学意义（χ2=4.44， P0.05），等位基因的差异有统计学意义（χ2=4.20，0.025P0.05），其中 C 等 位基因携带者患脑梗的危险度明显降低（OR=0.59，95%CI：0.35-0.98）；冠心病 组与正常对照组相比，Kozak 序列-5T/C 基因多态性基因型和等位基因与对照组相 比差异均无统计学意义（P0.05）。结论：（1）中国皖北地区汉族人群的血小板 GPⅠbα 基因 VNTR 多态性仅检出 B、C 两种等位基因，未检出 A、D 等位基因； VNTR CC 基因型可能是血栓性疾病的重要遗传易感因素之一，而 VNTR BC 基因 型则可能是其重要遗传保护因素之一。（2）GPⅠbα 基因 HPA-2 多态性可能与脑 梗死无相关性；其基因突变型（TM + MM）和 M 等位基因可能是冠心病的重要遗 传易感因素之一。（3）GPⅠbα 基因 Kozak 序列-5T/C 多态性基因型可能与血栓 性疾病无关，其突变杂合型 BC 中的 C 等位基因则可能是脑梗死的重要遗传保护 因素之一。关键词： GPⅠbα；基因多态性；血栓性疾病；VNTR；HPA-2；Kozak；脑 梗死；冠心病The Association of Polymorphisms in Platelet GlycoproteinⅠbα Gene with Thrombotic DiseasesAbstractObjective: To explore the potential association of polymorphisms of GPⅠbα gene, variable number tandem repeats (VNTR), human platelet antigen-2 (HPA-2) and ?5 T/C Kozak sequence in Chinese people, who live in the north of Anhwei, withthrombotic diseases. Methods: 139 patients with thrombotic diseases, of which 88 patients ( 51 men, 27 women ) with coronary heart disease ( CHD ) and 51 patients ( 27 men, 24 women ) with cerebral infarction ( CI ), and 107 controls ( 69 men, 48 women ) without clinical evidence of thrombotic events were investigated for the VNTR, HPA-2and ?5 T/C Kozak sequence polymorphisms in the GPⅠbα gene .Human genomicDNA was extracted by whole human blood genome DNA extraction kit, and the gene sequences was amplified by PCR, then the depurated PCR products were cut by restriction enzyme.Then, agarose gel electrophoresis ( AGE ) was performed to analyze for the allele and genotype frequencies of the VNTR, HPA-2 and -5T/C Kozak sequence polymorphisms in 139 patients and 107 controls. To compare the allele and genotype frequencies in every group, chi-square analysis was used. Results: (1) There was a significant association between genotype frequency as well as allelefrequency of VNTR in GPⅠbα gene and artery thrombotic diseases. Compared withVNTR BB and VNTR BC genotypes, VNTR CC genotype was a risk