汉族人群载脂蛋白CII基因二核苷酸串联重复序列(TG)n(AG)m及(AG)m序列的遗传多态性

目的:研究汉族人群载脂蛋白CII基因二核苷酸串联重复序列(TG)n(AG)m及(AG)m序列多态性。方法:采用套式聚合酶链反应结合变性聚丙烯酰胺凝胶电泳和银染技术,并构建了载脂蛋白CII(ApoCII)基因二核苷酸串联重复序列(TG)n(AG)m及(AG)m序列等位基因梯阶标准,检测了231例汉族人群健康体检者基因型和等位基因频率分布。同时测定了等位基因28的序列。结果:检出36种(TG)n(AG)m序列基因型、12种等位基因。等位基因为17,18,26-35,其频率分别为0.061,0.011,0.002,0.002,0.054,0.255,0.372,0.084,0.026,0.039,0.052,0.041。检出7种(AG)m序列基因型、4种等位基因。等位基因为6,7,8,9,其频率分别为0.002,0.152,0.812,0.034。与欧洲白种人比较,ApoCII基因二核苷酸串联重复序列(TG)n(AG)m及(AG)m序列等位基因频率分布均具有显著的差异性(χ2=341.47,P<0.01;χ2=56.05,P<0.01)。结论:载脂蛋白CII基因二核苷酸串联重复序列(TG)n(AG)m及(AG)m序列具有明显的种族差异性,了解汉族人群该序列的遗传特点,是研究其与疾病相关性的基础和前提。

Study on dinucleotide tandem repeats (TG)n(AG)m and (AG)m polymorphisms of apolipoprotein CII gene in Chinese Han population

AIM:Study on dinucleotide tandem repeats (TG)n(AG)m and (AG)m Polymorphisms of apolipoprotein CII gene in Chinese Han population. METHODS:Genetic polymorphism of apolipoprotein CII gene dinucleotide tandem repeats (TG)n (AG)m and (AG)m was analyzed by using nested polymerase chain reaction and polyacrylamide gel electrophoresis.The gels were stained by silver nitrate and the genotypes of samples were determined according to the alleic ladders.The DNA sequence of allele 28 was also detected. RESULTS:36 different genotypes and 12 different alleles of apolipoprotein CII gene dinucleotide tandem repeats (TG)n(AG)m were detected in 231 healthy individuals. The allele frequency distributions were 0.061(17), 0.011(18), 0.002(26), 0.002(27), 0.054(28), 0.255(29), 0.372(30), 0.084(31), 0.026(32), 0.039(33), 0.052(34), 0.041(35), respectively. There were 7 different genotypes and 4 different alleles of apolipoprotein CII gene dinucleotide tandem repeats (AG)m in healthy controls. The allele frequency distributions were 0.002 (6), 0.152(7), 0.812(8), 0.034(9). Comparing with Caucasian European,the alleles frequency distributions of apolipoprotein CII gene dinucleotide tandem repeats (TG)n(AG)m and (AG)m in Han population were highly different(χ 2=341.47, P< 0.01;χ 2=56.05, P< 0.01). CONCLUSION:There were genetic discrepancy of apolipoprotein CII gene dinucleotide tandem repeats (TG)n(AG)m and (AG)m between Han population and Caucasian European. Genetic of apoCII dinucleotide tandem repeats (TG)n(AG)m in different population is the base of studying its association to CHD.