Repeat structures of STR loci on autosome and sex chromosome

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Repeat structure polymorphism with respect to the base sequence of the vWA (12p12-12pter) and DXS986 loci was examined with dental pulp DNA in Japanese population as specimen.In the vWA locus 142 samples of dental pulp DNA were used as specimen. Repeat structure was examined with respect to the genetic region (vWA-K locus) at the 5' side position as reported by Kimpton et. al. and the genetic region (vWA-P locus) at the 3' side position as reported by Ploos van Amstel et al. among the approximately 670 bp on intron 40. With respect to the vWA-K locus, the base sequence of allele 14 was 5'-(tcta)_1(tctg)_1(tcta)_1(tctg)_4(tcta)_3(tcca)_1(tcta)_3(tcca)(tcc__-a)-3' and the allele was expressed as total of repeat number (1+1+1+4+3+1+3=14). However, the t in the 7th base towards the 3' side from the (tcta)_3 is replaced by c__-. On the other hand, repeat structure of alleles 15 to 20 was 5'-(tcta)_1(tctg)_4(tcta)_m(tcca)(tcta)-3' and the allele was expressed by l+4+m(m=10-15). Next, repeat structure of allele of vWA-P locus was indicated by (tgta)_p(tcta)_q(tcta)_r and the allele number was expressed as p+q+r(p=5-8, q=2-4, r=8-15). With respect to allele 21-23, when p value was 7 (also p=8 for allele 23), q was 4. And the c in the 8th base towards the 3' side from the (tcta)_r was replaced by t.Moreover, repeat structure of the DXS986 locus using 68 dental pulp DNA was examined, and alleles 26-37 and 42 were identified. The alleles were related to the repeat numbers of ca and ta, (ta)_p(ca)_q (p+q : p=11-20 and 26, q=13-21). The same allele type having different structures was identified in alleles 27, 29-31, 33-35 and 37.From the above, it was confirmed that the same allele type having different structures and single nucleotide polymorphism existed in the vWA and DXS986 loci and these loci were useful in personal identification with higher precision.