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[DYS389基因座的重复结构]

[Repeat structure of DYS389 locus].

作者信息

Komuro T, Tsutsumi H, Mukoyama R, Nakamura M

机构信息

Department of Legal Medicine, Nihon University School of Dentistry, Tokyo, Japan.

出版信息

Nihon Hoigaku Zasshi. 1998 Aug;52(4):227-32.

PMID:9893440
Abstract

In the DYS389 locus, tetranucleotide repeat units (CTGT and CTAT) connect complicatedly, and repeat sequences to show polymorphism are found in two sections. Because non-repetitive sequence including the same sequence as forward primer exists among these repeat sequences, a pair of primers for the DYS389 locus give two amplification products (DYS389 I and DYS389 II), both of which are polymorphic. These polymorphisms come from the differences in the number of CTGT and CTAT repeats. DNA was extracted from the dental pulp of 68 males and saliva of 48 males, and amplified for the DYS389 locus. And then the length polymorphisms and the repeat structures were examined. As results of denaturing polyacrylamide gel electrophoresis, alleles 8-12 appeared in the DYS389 I locus, while alleles 24 29 appeared in the DYS389 II locus, with alleles 11 and 27 showing the most frequent. As results of sequencing of many samples, we confirmed that the repeat structures of the DYS389 I and II alleles were (CTGT)3 (CTAT)r and (CTGT)p (CTAT)q (CTGT)3 (CTAT)r, respectively. DYS389 I alleles were related to the repeat numbers of r (r = 8-12), and DYS389 II alleles to the repeat numbers of p + q + r (p = 4.5; q = 11-14; r = 8-12). Even the same DNA size of DYS389 II alleles had different repeat structures, indicating that DYS389 is effective for the purposes of individual identification and paternity testing.

摘要

在DYS389基因座中,四核苷酸重复单元(CTGT和CTAT)连接复杂,且在两个区域发现了具有多态性的重复序列。由于这些重复序列中存在与正向引物相同序列的非重复序列,一对针对DYS389基因座的引物产生了两个扩增产物(DYS389 I和DYS389 II),二者均具有多态性。这些多态性来自CTGT和CTAT重复次数的差异。从68名男性的牙髓和48名男性的唾液中提取DNA,并对DYS389基因座进行扩增。然后检查长度多态性和重复结构。变性聚丙烯酰胺凝胶电泳结果显示,DYS389 I基因座出现等位基因8 - 12,而DYS389 II基因座出现等位基因24 - 29,其中等位基因11和27最为常见。对多个样本进行测序的结果表明,我们确认DYS389 I和II等位基因的重复结构分别为(CTGT)3 (CTAT)r和(CTGT)p (CTAT)q (CTGT)3 (CTAT)r。DYS389 I等位基因与r的重复次数相关(r = 8 - 12),DYS389 II等位基因与p + q + r的重复次数相关(p = 4.5;q = 11 - 14;r = 8 - 12)。即使DYS389 II等位基因具有相同的DNA大小,其重复结构也不同,这表明DYS389对于个体识别和亲子鉴定目的是有效的。

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