Repeat structures of STR loci on autosome and sex chromosome

以142份日本人牙髓DNA为样本，检测vWA（12 p12 - 12 pter）和DXS 986基因座碱基序列的重复结构多态性。根据Kimpton et.和Ploos货车Amstel等报道的3'侧位置的遗传区域（vWA-P基因座）。对于vWA-K基因座，等位基因14的碱基序列为5 ′-（tcta）_1（tctg）_1（tcta）_1（tctg）_4（tcta）_3（tcca）_1（tcta）_3（tcca）（tcc__-a）-3 ′，并且该等位基因表示为总重复数（1+1+1+4+3+1+3=14）。然而，从（tcta）_3向3'侧的第7个碱基中的t被c__-取代。等位基因15 ~ 20的重复结构为5 ′-（tcta）_1（tctg）_4（tcta）_m（tcca）（tcta）-3 ′，等位基因表达为l+4+m（m=10-15）。vWA-P位点等位基因的重复结构用（tgta）_p（tcta）_q（tcta）_r表示，等位基因数用p+q+r表示（p=5-8，q=2-4，r=8-15）。对于等位基因21-23，当p值为7时（对于等位基因23也是p=8），q为4。用t替换（tcta）r向3'侧第8位碱基的c。此外，用68份牙髓DNA检测DXS 986位点的重复结构，鉴定出等位基因26-37和42。等位基因与ca和ta的重复数有关，（ta）_p（ca）_q（p+q：p=11-20和26，q=13-21）。在等位基因27、29-31、33-35和37中发现了结构不同的同一等位基因类型。由此证实vWA和DXS 986位点存在结构不同的同一等位基因类型和单核苷酸多态性，这两个位点在个体识别中具有较高的准确性。

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.