Abstract

Analyses of insertion/deletion (INDEL) polymorphisms at the flanking regions of the X-chromosomal short tandem repeats, DXS10146 and DXS10147, were performed in 146 unrelated Japanese males. Allele frequency of the DXS10146 locus for the long type allele containing the 17-bp INDEL element was 0.932, whereas that for the short type allele in which the INDEL element was deleted was 0.068. For the DXS10147 locus, the long type allele frequency was 0.822 and the short type allele frequency was 0.178. INDEL polymorphisms at the DXS10146 and DXS10147 loci are strongly suggested to be associated with the repeat number of the first repeat block (TTCC) x in the core repeat unit and the (AAAC) 6 allele, respectively.

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