血小板膜糖蛋白Ⅰbα基因VNTR多态性与血栓性疾病

VNTR Polymorphism in Platelet Glycoprotein Ⅰ bα Gene with Thrombotic Diseases

目的探讨皖北地区汉族人群血小板膜糖蛋白(glycoprotein,GP)Ⅰbα基因的可变数目串联重复序列(variable number of tandem repeats,VNTR)多态性与血栓性疾病的相关性。方法采用病例对照研究,用多聚酶链反应技术,结合琼脂糖凝胶电泳和溴乙锭染色,对139例血栓病患者(其中冠心病患者88例,脑梗死患者51例)和与病例组年龄、性别相匹配的107例健康者的血小板GPⅠbα基因VNTR多态性进行检测。结果脑梗死组(CI组)和冠心病组(CHD组)VNTR多态性基因型与对照组相比差异均具有统计学意义。结论皖北地区汉族人群中血小板膜GPⅠbα基因VNTR多态性CC基因型可能是血栓性疾病的重要遗传易感因素,而BC基因型可能是其重要遗传保护因素。

Objective To investigate the association between variable number of tandem repeats （ VN- TR） polymorphism in platelet GP I bα gene and thrombotic diseases in the Chinese. Methods Case-control study was used in this study . Polymerase chain reaction （PCR） technique plus agarose gel electrophoresis （AGE） was performed to analyze for the alleles and genotype frequencies of the VNTR polymorphism in 139 patients with thrombotic events（ of which 88 with CHD and 51 with ACI ） and 107 controls without clinical evidence of thrombotic events for their alleles and genotype frequencies of the VNTR polymorphism. Results There were statistical differences in genotype frequency and allele frequency of GP I be gene between pa- tients and controls. Conclusion The VNTR CC genotype is associated with thrombotic diseases,while VNTR BC genotype can protects people from thrombotic diseases.