Study on the sequence and determination of the allelic variants at the D1S80 locus

通过对日本和中国人群中等位基因的分析，我们建立了一种新的命名方法，将其与相应的序列紧密地联系在一起，以便更容易和准确地指定新的类型。16、32、48、和80bp的短片段分别含有1、2、3、4和5个重复单位，因此命名为条带“1”、“2”、“3”、“4”和“5”。除侧翼区外，8种长度分别为221、237、253、269、285BP、317、349BP和365BP的片段分别含有6、7、8、9、10、12、14和15个重复单位，为了验证相同长度和相同带型的等位基因是否具有相同的序列，除上述测序样品外，还对多个等位基因进行了测序。在具有相同长度和相同带型的测序样本中，大多数共享相同的序列。然而，一些人揭示了不同的序列。由于突变体和梯形标记之间重复序列的不同，结构差异或电荷的片面分布导致了聚丙烯酰胺凝胶电泳法中更明显的迁移。

Through analyzing the alleles in Japanese and Chinese populations, we established a new nomenclature for the PCR-RFLP band patterns, closely relating them to their corresponding sequences so that the new types could be designated easily and accurately. The short fragments of 16 bp, 32 bp, 48 bp, 64 bp, and 80 bp contained 1,2,3,4, and 5 repeat units, respectively, and were thus named bands "1", "2", "3", "4", and "5". Excluding a flanking region, the eight kinds of long fragments of 221 bp, 237 bp, 253 bp, 269 bp, 285bp, 317 bp, 349bp, and 365 bp in length each contained 6,7,8,9,10,12,14, and 15 repeat units.To testify whether alleles of the same length and of the same band pattern possessed the same sequences, a number of alleles were sequenced in addition to the above-sequenced samples. Of the sequenced samples which had the same lengths and the same band patterns, most shared the same sequences. However, some revealed different sequences. Because of the differences in the repeat arrays between the variants and the ladder markers, structural differences or one-sided destribution of the electrical charge led to more apparent migration in polyacrylamide gel electrophoresis.