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人类DNA的个体特异性“指纹”。

Individual-specific 'fingerprints' of human DNA.

作者信息

Jeffreys A J, Wilson V, Thein S L

出版信息

Nature. 1985;316(6023):76-9. doi: 10.1038/316076a0.

Abstract

Simple tandem-repetitive regions of DNA (or 'minisatellites') which are dispersed in the human genome frequently show substantial length polymorphism arising from unequal exchanges which alter the number of short tandem repeats in a minisatellite. We have shown previously that the repeat elements in a subset of human minisatellites share a common 10-15-base-pair (bp) 'core' sequence which might act as a recombination signal in the generation of these hypervariable regions. A hybridization probe consisting of the core repeated in tandem can detect many highly polymorphic minisatellites simultaneously to provide a set of genetic markers of general use in human linkage analysis. We now show that other variant (core)n probes can detect additional sets of hypervariable minisatellites to produce somatically stable DNA 'fingerprints' which are completely specific to an individual (or to his or her identical twin) and can be applied directly to problems of human identification, including parenthood testing.

摘要

分散于人类基因组中的简单串联重复DNA区域(即“微卫星”),常常因不等交换而呈现出显著的长度多态性,这种不等交换会改变微卫星中短串联重复序列的数量。我们之前已经表明,人类微卫星亚组中的重复元件共享一个常见的10 - 15碱基对(bp)“核心”序列,该序列可能在这些高变区的产生过程中充当重组信号。由串联重复的核心组成的杂交探针能够同时检测许多高度多态的微卫星,从而提供一组在人类连锁分析中普遍适用的遗传标记。我们现在表明,其他变异的(核心)n探针可以检测到更多组高变微卫星,以产生体细胞稳定的DNA“指纹”,这些指纹对个体(或其同卵双胞胎)而言是完全特异的,并且可以直接应用于人类身份鉴定问题,包括亲子鉴定。

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