Individual-specific ‘fingerprints’ of human DNA

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.

Hypervariable polymorphic VNTR loci for parentage testing and individual identification

“…From the three analyses, the probability that two randomly selected individuals will have the same genotypes was 2.16 x 10 -'5. On the other hand, the probability that randomly chosen two siblings will have the same genotypes was 4.38 x 10-L DISCUSSION DNA probes are now starting to be used widely due to its hypervariable polymorphisms, especially in forensic individualization (Gill et al, 1985(Gill et al, , 1987Jeffreys et al, 1985b), and in paternity suits Jeffreys et al, 1986). Almost all of them are multi-locus probes which recognize several VNTR loci under the conditions of reduced stringency.…”

“…Another class of polymorphisms in hypervariable regions of DNA which resulted from a variable number of tandem repeats (VNTR). VNTR loci are valuable genetic markers for human linkage maps , parentage testing (Jeffreys et al, 1985a;Baird et al, 1986) and individual identification (Jeffreys et a!., 1985b;Gill et al, 1985;Giusti et al, 1986). A common feature of these probes is the presence of a short core sequence element (i.e., VNTR or hypervariable repeat, HVR) which is repeated in tandem along the chromosome and provides for the variable polymorphic character the locus (Nakamura et al, 1987).…”

Prevalence of minisatellite and microsatellite instability in radiation-induced post-Chernobyl pediatric thyroid carcinomas

“…Minisatellites are tandemly repeated highly variable DNA sequences found in most higher eukaryotes (Je reys, 1987). The extreme variability of minisatellites led to their widespread use in forensic and legal medicine (Je reys et al, 1985). However, human minisatellite loci show a degree of germline instability, with newlength alleles identi®ed by pedigree analysis (Je reys et al, 1988).…”

DNA profiling: The first 30years

“…This year marks 30 years since the seminal publications by Alec Jeffreys et al appeared in Nature (1)(2)(3). At the time Jeffreys was studying gene structure and function; when he found regions of DNA that were highly variable he had the insight to recognize that hypervariable regions could be applied to human identification.…”