TPOX基因座三带型的检出及初步分析

目的：对检出TPOX基因座三带型进行初步分析。方法：通过PCR扩增,非变性聚丙烯酰胺凝胶电泳及银染技术对TPOX基因座进行分型,并对检出的三带型进行分析。结果：在2例样本中,TPOX基因座均出现三带型等位基因,两者的3个等位基因在荧光检测引物区内除重复次数不同其他序列完全相同。2个样品的等位基因在荧光引物外侧存在几处突变。结论：通过不同方法验证,三带型等位基因在TPOX基因座上确存在。

Analysis on 3 tri-allelic variant cases of the STR TPOX locus

Objective： To investigate the three-banded alleles of the STR TPOX locus. Methods： The genetype of the TPOX locus was determined and analysed by PCR technique followed by the non-denatured PAGE and silver staining. Results：Three-banded alleles were detected in the TPOX locus of two samples. Sequencing proved that the only difference among them was the number of repeat unit for sample one. It might be due to the unequal exchange between homologue chromo-somes, which resulted in the chimera. Conclusion： Three-banded alleles of the TPOX locus were detected and confirmed by different methods.