中国北方汉族人群肌型肌酸激酶基因(CKMM)A/G多态研究

An A/G Polymorphism in Muscle-specific Creatine Kinase Gene in Han Population in Northern China

为研究中国汉族群体CKMM基因NcoⅠ酶切位点的遗传多态性以及该位点的具体多态形式,采用PCRRFLP技术,对306例无血缘关系的健康中国北方汉人的染色体进行检测,并对3种基因型的扩增产物进行基因测序。用卡方检验对所得等位基因频率、基因型频率与其他种族进行比较。结果表明:NcoⅠ位点多态性为A/G颠换;等位基因频率是A=86%,G=14%;基因型频率为:A/A=74%,A/G=24%,G/G=2%;经卡方检验符合HardyWeinberg遗传平衡定律;认为中国汉族群体CKMM基因NcoⅠ酶切位点具有遗传多态性。其基因型频率和等位基因频率在男女间没有显著性差异,与欧美人群相比有极显著差异,而与韩国人相比没有显著性差异。

To explore the distribution about genotype and allele frequencies of Nco I polymorphism in the CKMM gene in Han population in Northern China, and investigate what the genotypes were, PCR-RFLP was used to examine the genotype and allele frequencies of 306 unrelated healthy persons. Sequencing was used to analyze all three genotypes.X^2 test was used to compare the frequencies between Chinese Han population and foreign population. The Nco I polymorphism was A/G. The allele frequencies were as follows： A = 86% , G = 14 % . The genotype frequencies were A/A = 74 %, A/G = 24 %, G/G = 2 % and they were in Hardy-Weinberg equilibrium. The site of Nco I in the CKMM from Chinese Han population had polymorphism. No significant difference was detected in genotype and allele frequencies between men and women. There were significant differences between Chinese Han population and those in Europe and America, but no significant difference was detected between Chinese population and Korean population.