浙江地区汉族人TAFI基因编码序列C1040T基因多态性的研究

Study of C1040T Polymorphism of Thrombin Activatable Fibrinolysis Inhibitor Gene Coding Sequence in Zhejiang Han Population

目的研究浙江地区汉族人凝血酶活化的纤溶抑制物基因编码区中与其血浆水平相关的C1040T基因多态性的特点。方法应用PCR技术结合SpeI酶切分析,研究了126名浙江地区汉族人凝血酶活化的纤溶抑制物基因编码区C1040T基因的多态性。结果浙江地区汉族人等位基因C1040与等位基因T1040的频率分别为0.798和0.202;基因型1040C/C纯合子、1040C/T杂合子及1040T/T纯合子的频率分别为0.667、0.262和0.071。结论浙江地区汉族人凝血酶活化的纤溶抑制物C1040T基因多态性的分布与其他人种有显著性差异。

Objective To investigate the C1040T polymorphism in thrombin activatable fibrinolysis inhibitor gene coding sequence in Zhejiang Han population, and this polymorphism was assiocated with the levels of thrombin activatable fibrinolysis inhibitor in plasma. Methods The C1040T polymorphism in TAFI from 126 no sib individuals was analyzed by polymerase chain reaction and Spe Ⅰ restriction assay, and the resulting products were electrophoresed in 1.5% agarose gels and stained with Gold View. Results In Zhejiang Han population, the allic frequencies were 0. 798 for C1040 allele and 0. 202 for T1040 allele. The genotype frequencies were 0. 667,0. 262 and 0. 071 for homozygous 1040C/C, heterozygous 1040C/T and homozygous 1040T/T, respectively. Conclusions The C1040T polymorphism of TAFI in Zhejiang Han population was significantly different from that in other population observed.