中国南方地区汉族人群Aggrecan核心蛋白基因串联重复序列多态性的研究

目的:研究133例中国南方汉族人的Aggrecan核心蛋白基因是否存在可变数目串联重复序列多态性及其分布情况。方法:133例中国南方汉族人,其中男77例,女56例,年龄18～90岁,平均54岁。应用PCR技术检测Aggrecan核心蛋白基因多态性分布情况。结果:133例中国南方汉族人Aggrecan核心蛋白基因得出8种长短不同的串联重复序列(Allele32、Allele29、Allele28、Allele27、Allele26、Allele25、Allele22、Allele13),重复片段长度为57bp,以中等长度重复序列片段(Allele27占48.49%、Allele28占27.44%、Allele28占12.03%)出现频率为主,短和长重复序列片段(Allele13占0.4%、Allele22占4.14%、Allele25占4.89%、Allele29占1.13%、Allele32占1.88%、Allele13占0.38%)出现的频率较低。结论:133例中国南方汉族人Aggrecan核心蛋白基因片段中存在可变数目串联重复序列多态性,主要以中等长度串联重复序列片段出现频率最高,短和长串联重复序列片段出...

A study on the variable number of tandem repeats polymorphism of the aggrecan gene in Han Chinese in southern China

Objective To study whether the variable number of tandem repeats polymorphism has been present in the aggrecan gene and its distribution in 133 Han Chinese in southern China. Methods The distribution of the polymorphisms of the aggrecan gene was detected by using polymerase chain reaction (PCR) in 77 male and 56 female Han Chinese aged 18 to 90 yreas. Results Eight tandem repeats of the aggrecan gene in different length were detectable in these 133 subjects. The moderate-length tandem repeats were more common, allele 27 accounting for 48.49%, allele 28 27.44%, and allele 26 12.03%; while the short or long tandem repeats were less, allele13 being 0.4%, allele 22 4.14%, allele 25 4.89%, allele 29 1.13%, and allele 32 1.88%. Conclusion The variable number of tandem repeats polymorphism is present in the aggrecan gene in Han Chinese in southern China. The moderate-length tandem repeats are present more frequently while less short or long tandem repeats occur.