D1S1656位点高变短串联重复序列的序列变异

Sequence variation of a hypervariable short tandem repeat at the D1S1656 locus.

作者信息

Lareu M V, Barral S, Salas A, Pestoni C, Carracedo A

机构信息

Institute of Legal Medicine, Faculty of Medicine, Santiago de Compostela, Spain.

出版信息

Int J Legal Med. 1998;111(5):244-7. doi: 10.1007/s004140050161.

DOI:10.1007/s004140050161

PMID:9728750

Abstract

A short tandem repeat at the D1S1656 locus was sequenced in 45 selected alleles and 13 different alleles were found which were designated according to the total number of repeats. This STR is a compound hypervariable STR consisting of blocks of (TAGR) repeats with a basic sequence structure (TAGA)4(TGA)0-1(TAGA)6-16(TAGG)0-1(TG)5. The presence of a TGA, probably due to an A deletion in the fifth TAGA repeat leads to intermediate a.3 alleles. Population data showed that this is a highly polymorphic STR with a heterozygosity of more than 0.89. This fact together with its simple structure and small size (129-168 bp) makes this STR one of the most interesting DNA polymorphisms for forensic and genetic purposes.

摘要

对D1S1656位点的一个短串联重复序列在45个选定的等位基因中进行了测序，发现了13个不同的等位基因，并根据重复总数进行了命名。该短串联重复序列是一个复合高变短串联重复序列，由(TAGR)重复序列块组成，基本序列结构为(TAGA)4(TGA)0 - 1(TAGA)6 - 16(TAGG)0 - 1(TG)5。TGA的存在可能是由于第五个TAGA重复序列中的一个A缺失，导致了中间的a.3等位基因。群体数据表明，这是一个高度多态的短串联重复序列，杂合度超过0.89。这一事实连同其简单的结构和小尺寸(129 - 168 bp)，使得该短串联重复序列成为法医和遗传学目的中最有趣的DNA多态性之一。