我国河南汉族正常人群凝血因子VII基因MspI多态性观察

Msp I polymorphism of the coagulation factor VII gene in Chinese Han population

目的研究我国汉族正常人群凝血因子Vll基因MspI多态性的分布特点。方法利用聚合酶链反应—限制性内切酶片段长度多态性(PCR-RFLP)技术,分析560名河南汉族正常人群凝血因子VII(FVII)基因R353Q突变的分布情况。结果我国河南汉族正常人群FVII基因R353Q的RR,RQ,QQ,基因型频率分别是0.864,0.132,0.004;R,Q等位基因频率分别是0.930,0.070;与国外其他种族相比,基因型及等位基因频率与日本人差异无统计学意义(χ2=2.475,P>0.05:χ2=0.000,P>0.05);RQ及QQ基因型明显低于意大利人,差异具有统计学意义(χ2=38.536,P<0.01;χ2=16.311,P<0.01);Q等位基因明显低于意大利人,差异具有统计学意义(χ2=50.228,P<0.01)。结论我国河南汉族正常人群FVII基因R353Q突变的基因型分布不同于国外其它种族,具有种族或地域的差异。关键词:凝血因子VII;基因多态性;

Objective： To investigate the distribution of R353Q polymorphism of the FⅦ gene in Chinese Hart population. Methods- R353Q polymorphism of the FⅦ gene of 560 unrelated healthy individuals was studied by means of polymerase chain reaction and restriction fragmem length polymorphisms （PCR - RFLP）. Results： All subjects were genotyped for FⅦ gene, the frequencies of the RR, RQ, QQ genotypes were 0. 864, 0. 1 32, 0. 004 respectively, the frequencies of R and Q allele were 0. 930, 0. 070 respectively： There were no significant differences in the genotype and allele frequencies between the Chinese Han population and Japa- nese ; In the Han population, the frequency of the RQ and QQ genotypes was significantly lower than that in Italy （ X^2 = 38. 536, P 〈 0. 01; X^2 = 16. 311, P 〈0. 01 ）, the allele frequency of the R and Q was significantly lower than that in Italy （X^2 = 50. 228, P 〈 0. 01 ）. Conclusion： The prevalences of gene mutation of FⅦ might vary with different ethnic group or geographic regions.