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目的 探讨人类线粒体基因控制区的多态频率和变异类型。方法 搜集基因文库记录的 86个人类线粒体基因D环控制区序列 ,并与标准剑桥序列进行比对分析。结果 86个序列中共在 181个位点发现 12 5 3个碱基变异 ,主要变异形式为碱基转换 (占 71.75 % ) ,其次为碱基插入 (16 .0 4 % )和缺失 (8.6 2 % ) ,碱基颠换较少 ,仅占3.5 9%。核酸位点 16 189、30 3～ 315、5 14～ 5 2 3是变异频率较高 ,且具有基因长度不稳定的区域。结论 线粒体基因D环区为高度多态变异区 ,其变异频率的确定可为针对线粒体基因多态性与疾病发生风险评估的其他研究提供参考。
Objective To explore the polymorphism frequency and variation type of human mitochondrial DNA gene control region. Methods Eighty-six human mitochondrial DNA D loop control region sequences were collected from the gene library and compared with the standard Cambridge sequences. Results A total of 125 base pairs mutations were found at 181 loci in 86 sequences. The major variations were base conversion (71.75%), followed by base insertion (16.0%) and deletion (8.6% ), Less transversion, accounting for only 3.59%. Nucleic acid loci 16 189,30 3 ~ 315,5 14 ~ 5 2 3 is a region with high mutation frequency and unstable gene length. Conclusion The D loop region of mitochondrial DNA is highly polymorphic. The frequency of mutation can be used as reference for other studies on mitochondrial DNA polymorphism and risk assessment.