汉族人群FⅩⅢA Pro 564 Leu和Glu 651 Gln多态性的研究  

Pro 564 Leu and Glu 651 Gln Polymorphisms in FⅩⅢA gene in Hainan Han Population

作　　者：马秋玲[1] 廖小平[2] 文国强[2] 黄仕雄[2] 刘国勋[3] 程爽[3] 包承鑫[4] 蔡望伟[1] 

机构地区：[1]海南医学院生物化学教研室 [2]海南省人民医院神经内科 [3]广东医学院附属医院血液内科 [4]中国医学科学院血液学研究所

出　　处：《血栓与止血学》2007年第1期4-7,共4页Chinese Journal of Thrombosis and Hemostasis

基　　金：国家自然科学基金项目(No.30060037);教育部科学技术研究重点项目(No.03147);海南医学院重点学科项目(海医科研部[2005-46])

摘　　要：目的分析海南汉族人群和缺血性脑卒中患者凝血因子(?)A(F(?)A)Pro 564 Leu(CCG→CTG)、Glu 651 Gln(GAG→CAG)多态性的分布特点。方法应用AS-PCR和核苷酸序列测定技术分析157名海南汉族对照个体和166例缺血性脑卒中患者F(?)A Pro 564 Leu、Glu 651 Gln多态性。结果157例海南汉族对照个体中F(?)A Pro 564 Leu多态性CC、CT、TT基因型频率分别为0.408、0.433、0.159,F(?)A Glu 651 Gln多态性GG、GC、CC基因型的频率分别为0.763、0.181、0.055,F(?)A Pro 564、564 Leu、Glu 651和651 Gln的等位基因频率分别为0.624、0.379、0.854和0.145。166例缺血性脑卒中患者中F(?)A Pro 564 Leu多态性CC、CT、TT基因型频率分别为0.404、0.361、0.235,F(?)A Glu 651 Gln多态性GG、GC、CC基因型的频率分别为0.736、0.233、0.031,F(?)A Pro 564、564 Leu、Glu 651和651 Gln的等位基因频率分别为0.584、0.416、0.852和0.148;对照组和病例组F(?)A Pro 564 Leu和Glu 651 Gln两个多态性位点的基因型分布和等位基因频率无显著性差异(P>0.05)。结论海南汉族人群中存在F(?)A基因Pro 564 Leu和Glu 651 Gln多态性,但这两个多态性与缺血性脑卒中没有关联性。Objective To investigate the Pro 564 Leu （CCG→CTG） and Glu 651 Gln（GAG→CAG） polymorphisms of the FⅩⅢA gene in Han nationality in Hainan, China. Methods The Pro 564 Leu and Glu 651 Gin polymorphisms were detected by allele-specific polymerase chain reaction and nucleotide sequencing in the 157 unrelated individuals and 166 ischemic stroke patients of Han nationality in Hainan, China. Results In 157 control individuals, the frequencies of genotype CC, CT and TT of Pro 564 Leu polymorphism were 0.408,0. 433,0. 159 respectively and the frequencies of genotypes GG, GC and CC of Glu 651 Gin polymorphism were 0.763, 0. 181, 0.055 respectively. The allelic frequencies of the FⅩⅢA 564Pro, 564 Leu, 651Glu and 651 Gin were 0. 624. 0. 379, 0. 854 and 0. 145 respectively in the control individuals. In 166 patients of ischemic stroke, the frequencies of genotype CC, CT and TT of Pro 564 Leu polymorphism were 0. 404,0.361, 0. 235 respectively and the frequencies of genotypes GG, GC and CC of Glu 651 Gin polymorphism were 0. 736, 0. 233, 0. 031 respectively. The allelic frequencies of the FⅩⅢA 564Pro, 564 Leu, 651Glu and 651 Gin were 0.584, 0. 416, 0. 852 and 0. 148 respectively in the ischemic stroke group. The frequencies of alleles and genotype distribution of the FⅩⅢA Pro 564 Leu , Glu 651 Gin were not significant differences between control group and isehemie stroke group （ P 〉 0.05）. Conclusion There are Pro 564 Leu and Glu 651 Gin polymorphisms of FⅩⅢA gene in Hainan Han population. The two polymorphisms were not associated with isehemie stroke.

关 键 词：凝血因子(ⅩⅢ) 多态性 缺血性脑卒中 

分 类 号：R754[医药卫生—皮肤病学与性病学]