【摘要】 目的　探讨毛球微量标本在人类基因型研究中的价值。方法　对 463名健康人采用多重放大受阻突变系统聚合酶链反应技术 (multi ARMSPCR )进行载脂蛋白E(apoE)基因分型 ,对 2 0名健康人采用三色荧光标记引物复合扩增短串联重复序列 (STR)技术 ,进行人类基因组的 9个STR位点分析 ,并对两种标本的检测结果进行分析对比。结果　同一个体毛球标本和全血标本apoE基因型检测结果完全一致 ,9个STR位点多态性结果也完全一致。运用multi ARMSPCR技术检测apoE基因型 ,频率分别为ε3 / 3 68 9% ,ε3 / 2 15 8% ,ε4/ 3 12 1% ,ε4/ 2 1 7% ,ε4/ 40 9% ,ε2 / 20 6%。ε2、ε3、ε4等位基因频率分别为 9 4%、82 8%和 7 8%。结论　人头发的毛球标本易采集、易保存 ,为临床检测基因型和基因分析的较好标本更多还原

【Abstract】 Objective Study on hair bulb for human genotype analyses. Methods Using human blood and hair bulb samples, apoE genotypes of 463 healthy persons were identified by the multiplex amplification refractory mutation system PCR(multi-ARMS PCR), and 9 short tandem repeat (STR) loci were identified by AmpFlSTR Profiler Plus multiplex PCR. The two kinds of results for every individual were compared. Results The results for every individual of human hair bulb and whole blood samples were all significantly coincident. By multi-AMRS PCR, the prevalence of apoE genotype ε3/3, ε3/2, ε4/3, ε4/2, ε4/4, ε2/2 was 68 9%, 15 8%, 12 1%, 1 7%, 0 9% and 0 6% respectively. The apoE allelic frequencies were 9 4% for ε2, 82 8% for ε3 and 7 8% for ε4 Conlusion The hair bulb is easy to collect and store, it is a good sample for clinical detection of genotypes and other genetic diagnosis更多还原