苏州地区汉族人胶原受体α2基因编码序列C807T基因多态性研究

摘要

目的研究苏州地区汉族人胶原受体α2基因编码序列中与血小板表面α2β1的表达相关的C807T基因多态性特点。方法应用PCR技术结合BglⅡ和AseⅠ酶切分析、聚丙烯酰胺凝胶电泳、溴乙锭染色及DNA测序分析，研究了苏州地区110名汉族人α2基因编码序列C807T基因多态性特点。结果苏州地区汉族人等位基因T807与等位基因C807的频率分别为0.291和0.709，总理论杂合率为41％。等位基因807T/T纯合子、等位基因807C/T杂合子和等位基因807C/C纯合子的频率分别为0.018，0.546和0.436。结论苏州地区汉族人α2基因的C807T基因多态性与其他人种差异显著。%Objective To study the C807T polymorphism of the platelet collagen receptor α2 gene codingsequence in Suzhou Han population. This polymorphism was associated with the expression density of integrin α2 β1on the platelet surface. Methods An amplified 1332 bp fragment of human α2 gene from 110 unrelated individualswas analyzed by Bgl Ⅱ and Ase Ⅰ restriction assay. The resulting products were electrophoresed in 8 % polyaerylamide gels and stained with ethidium bromide. Results The ailelic frequencies were 0.291:0.709 for T807 allele:C807 allele in Suzhou Han population. The total theoretical heterozygous rate was 41%. The genotypic frequencieswere 0.018: 0. 546: 0.436 for homozygous 807T allele: heterozygous 807C/T allele: homozygous 807 C allele. Conclusion The C807T polymorphism of the platelet collagen receptor α2 gene in Suzhou Han population was differentfrom that observed in other populations.