为研究中国汉族群体PPARAδ基因C294T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329例无血缘关系的健康中国北方汉族人的染色体进行检测.用卡方检验对所得等位基因频率、基因型频率进行分析,实验结果与其他种族进行比较.结果显示C294T位点存在多态性,等位基因频率rC=25.9％,rT=74.1％；基因型频率rC/C=6.1％,rC/T=39.8％,rT/T=54.1％；经卡方检验符合Hardy-Weinberg遗传平衡定律；认为中国汉族群体PPARδ基因C294T酶切位点也具有遗传多态性.其基因型频率和等位基因频率在男女间没有显著性差异,与德国人群有显著性差异；与瑞典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 C294T polymorphism in the PPAR8 gene in Han nationality from northern China, and investigate what the genotypes were, PCR-RFLP was used to examine the genotype and allele frequencies of 329 unrelated healthy persons.χ2 test was used to compare the frequencies between Chinese Han nationality and foreign nationalities. The C294T polymorphism was C/T. The allele frequencies were as follows ;rC =25. 9% ,rT = 74. 1% and the genotype frequencies were;rC/C =6.1% , rC/T =39. 8% , rT/T =54. 1% and they were in Hardy-Weinberg equilibrium. The site of C294T in the PPAR8 from Chinese Han nationality had polymorphism. No significant difference was detected in genotype and allele frequencies between male and female. There were significant differences between Chinese Han nationality and those in Germany and Sweden, but no significant difference was detected between Chinese nationality and Korean nationality.
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