用等位基因特异性PCR检测β纤维蛋白原-1420G/A、-993C/T多态性的研究

Analysis of the Beta-fibrinogen Gene -1420G/A,-993C/T Polymorphisms by Allele-specific Polymerase Chain Reaction

目的建立分析β纤维蛋白原(Fbg)基因启动区-1420G/A、-993C/T多态性等位基因特异聚合酶链反应(AS-PCR)的方法,并分析海南汉族人群中这两个多态性位点的基因型和等位基因频率。方法应用AS-PCR和核苷酸序列测定技术分析130例海南籍汉族人群Fbg β-1420G/A、β-993C/T多态性的基因型和等位基因频率。结果Fbg β- 1420多态性位点有GG、GA、AA等3种基因型,频率分别为0.577、0.362、0.062,G和A的等位基因频率为0.758和0.242;β-993多态性位点有CC、TT等2种基因型,频率分别为0.623、0.377,C和T的等位基因频率为0.812和0.189。结论AS-PCR为一种简便、快速、准确的检测Fbg β-1420G/A和β-993C/T多态性的方法。

Objective To establish the method of allele-specific polymerase chain reaction for detecting β-1420G/A, β-993 C/T polymorphisms in the 5 ' promoter region of beta-fibrinogen gene and to investigate the two polymorphisms in the Hainan Han population. Methods Allele-specific polymerase chain reaction and nucleotide sequencing were used to analyze the allelic frequencies and the genotype frequencies of Fbg-B β gene -1420G/A,-993C/T polymorphisms in one hundred and thirty Hainanese individuals. Results Three genotypes of GG,GA and AA were identified in -1420 polymorphisms,the genotype frequencies of GG, GA and AA were 0.577,0. 362,0.062, respectively and the allelic frequencies of G and A were 0.758 and O. 242 respectively. Two genotypes of CC and CT were identified in -993 polymorphisms, the genotype frequencies of CC and CT were 0. 623,0. 377, respectively. while the allelic frequencies C and T were 0. 812 and 0. 189, respectively. Conclusion The allele-specific polymerase chain reaction is a simple, specific and reliable method to detect the β-1420G/A, β-993 C/T polymorphisms in Fbg-Bβ gene.