Structural polymorphisms at the X-chromosomal short tandem repeat loci DXS10134, DXS10135, DXS10146 and DXS10148

Abstract Sequence analyses for the X-chromosomal short tandem repeat loci DXS10134, DXS10135, DXS10146 and DXS10148 were performed in 140 unrelated Japanese males. For the DXS10134 locus, 12 different-sized alleles were identified; a structural polymorphism was found in 1 allele only. For the DXS10135 locus, 16 different-sized alleles were identified; structural polymorphisms were found in 8 different-sized alleles. For the DXS10146 locus, 14 different-sized alleles were identified; structural polymorphisms were found in 2 different-sized alleles. For the DXS10148 locus, 16 different-sized alleles were identified; structural polymorphisms were found in 7 different-sized alleles. Discrepancies between allele designations based on size and repeat number were observed in 2 samples each for DXS10146 and DXS10148. Therefore, sequencing is effective in identifying alleles of DXS10134, DXS10135, DXS10146 and DXS10148 where sequence polymorphisms are observed.