31例中国汉族人外周血白细胞线粒体DNA高变Ⅰ区序列特殊变异分析

Special mitochondrial DNA variation at the hypervariable region Ⅰ of peripheral white blood cells in 31 cases of Chinese Han population

目的 通过分析线粒体DNA序列 ,进一步了解中国汉族人线粒体基因多态性的特点。方法 一步法制备 3 1个无亲缘关系的中国汉族个体的外周血白细胞线粒体DNA ,PCR扩增包括非编码高变Ⅰ区在内的 15 2 8bp核酸片段 ,并直接测序 ,分析高变Ⅰ区序列变异情况。结果 高变Ⅰ区 162 2 3和 163 62核苷酸位点 ,分别出现高频率C→T变异 ( 70 97% ,2 2 /3 1)及T→C变异 ( 4 8 3 9% ,15 /3 1)。结论 线粒体DNA第 162 2 3核苷酸位点T和第 163 62核苷酸位点C很可能是中国汉族人特异性的单核苷酸多态性位点。

Objective To know more polymorphic changes of mitochondrial DNA in Chinese Han population. Methods One-step method was used to acquire mtDNA samples from the peripheral white blood cells of 31 unrelated individuals of Han population in China. PCR analysis and direct sequencing were performed. The non-coding region HVR Ⅰ variations were also analyzed. Results High frequency nucleotide substitutions of C16223T (70.97%, 22/31) and T16362C (48.39%, 15/31) were demonstrated. Conclusion The results suggest that the position at the 16 223 and 16 362 nucleotides of mtDNA may be single nucleotide polymorphism (SNP) for Chinese Han population.