Jeffreys A J, Brookfield J F, Semeonoff R
Nature. 1985;317(6040):818-9. doi: 10.1038/317818a0.
The human genome contains a set of minisatellites, each of which consists of tandem repeats of a DNA segment containing the 'core' sequence, a putative recombination signal in human DNA. Multiallelic variation in the number of tandem repeats occurs at many of these minisatellite loci. Hybridization probes consisting of tandem repeats of the core sequence detect many hypervariable minisatellites simultaneously in human DNA, to produce a DNA fingerprint that is completely individual-specific and shows somatic and germline stability. These DNA fingerprints are derived from a large number of highly informative dispersed autosomal loci and are suitable for linkage analysis in man, and for individual identification in, for example, forensic science and paternity testing. They can also be used to resolve immigration disputes arising from lack of proof of family relationships. To illustrate the potential for positive or inclusive identification, we now describe the DNA fingerprint analysis of an immigration case, the resolution of which would have been very difficult and laborious using currently available single-locus genetic markers.
人类基因组包含一组小卫星,其中每一个都由包含“核心”序列的DNA片段的串联重复组成,该“核心”序列是人类DNA中一个假定的重组信号。串联重复数目的多等位基因变异发生在许多这些小卫星位点。由核心序列的串联重复组成的杂交探针可同时检测人类DNA中的许多高变小卫星,以产生完全个体特异性且显示体细胞和种系稳定性的DNA指纹。这些DNA指纹来自大量信息丰富的分散常染色体位点,适用于人类的连锁分析,以及例如法医学和亲子鉴定中的个体识别。它们还可用于解决因缺乏亲属关系证明而产生的移民纠纷。为了说明阳性或包容性识别的潜力,我们现在描述一个移民案件的DNA指纹分析,若使用目前可用的单基因座遗传标记来解决该案件将非常困难且费力。