Kurosaki K, Saitoh H, Oota H, Watanabe Y, Kiuchi M, Ueda S
Department of Legal Medicine, School of Medicine, Chiba University, Japan.
Nihon Hoigaku Zasshi. 1997 Jun;51(3):191-5.
Allele frequencies for a tetrameric short tandem repeat locus, CYP19, were determined in 220 unrelated Japanese individuals. The frequency distribution was similar to that of a previous report. However, PCR amplification using two sets of primers suggested that one allele consisting of 7 TTTA repeats (the allele 7) was divided into two separate ones, 7P (standard) and 7(-3), which differed in length for 3 bp. Sequence analysis of the two alleles revealed that the smaller 7(-3) had a 3-bp deletion in the 5'-flanking region of the tetrameric repeat. The deletion was also observed as the allele 7(-3) in non-Japanese such as Caucasians and Africans; it was only found in a part of the allele 7 [7(-3)], but not in the other alleles, in all examined populations. In the Japanese population, the deletion was observed in 39.6% of the allele 7, or 24.8% of all of the alleles. When the STR polymorphism at the CYP19 locus was combined with the polymorphic deletion adjacent to the repeat region, the numerical indices of genetic polymorphisms (heterozygosity, polymorphism information content and the power of discrimination) in Japanese rose from 0.541, 0.46 and 0.723 to 0.723, 0.66 and 0.864, respectively. Accordingly, the combined polymorphism at the CYP19 locus can be considered appropriate for hereditary analysis in the field of forensic science.
在220名无亲缘关系的日本个体中测定了四聚体短串联重复序列基因座CYP19的等位基因频率。频率分布与先前的报告相似。然而，使用两组引物进行的PCR扩增表明，一个由7个TTTA重复序列组成的等位基因（等位基因7）被分为两个单独的等位基因，7P（标准型）和7(-3)，它们的长度相差3 bp。对这两个等位基因的序列分析表明，较小的7(-3)在四聚体重复序列的5'侧翼区域有一个3 bp的缺失。在高加索人和非洲人等非日本人中也观察到该缺失作为等位基因7(-3)；在所有检测人群中，该缺失仅在等位基因7的一部分[7(-3)]中发现，而在其他等位基因中未发现。在日本人群中，在39.6%的等位基因7中观察到该缺失，占所有等位基因的24.8%。当CYP19基因座的STR多态性与重复区域相邻的多态性缺失相结合时，日本人遗传多态性的数值指标（杂合度、多态信息含量和鉴别力）分别从0.541、0.46和0.723上升到0.723、0.66和0.864。因此，CYP19基因座的联合多态性可被认为适用于法医学领域的遗传分析。
