Zeneca Limited

Imperial Chemical Industries Limited

University of Leicester

The Lister Institute of Preventive Medicine

Alec John Jeffreys

Stephen Little

Jannine Brownie

Duncan Martin Baird

Richard Mark Ferrie

Nicola Jane Royle

John Armour

A method of characterizing a test sample of genomic DNA which method comprises contacting the test sample with type specific primer to prime selectively, within a telomere repeat array, internal repeat units of that type, and extending the type specific primers in the presence of appropriate nucleoside triphosphates and an agent for polymerization thereof to produce a set of amplification products extending from the internal repeat units of that type to at least the end of the telomere repeat array.

Method for characterising variability in telomere DNA by PCR

The present invention relates generally to a method of characterizing a sample of genomic DNA and to nucleotide sequences employed in the method as well as kits comprising these. In particular the invention involves the use of primers which selectively prime specific type(s) of internal repeat unit in a tandemly repeated region. The method of the invention is particularly useful in forensic or paternity studies and provides individual sample codes suitable for computerized storage on, and retrieval from, a database.

Method of characterisation of genomic DNA

The present invention concerns a method for the identification from DNA of a fragment comprising a simple tandem repeat locus comprising the steps of:

Simple tandem repeats

A method of characterizing a test sample of genomic DNA which method comprises amplifying a tandemly repeated region, comprising more than one type of repeat unit, as far as internal repeat units of a specific type so as to generate a set of amplification products which identify the relative positions of the internal repeat units within the tandemly repeated region, and separating the set of amplification products to provide a sample code. The sample codes are suitable for computerized storage on, and retrieval from, a database. The invention also provides a novel method for the detection of diagnostic base sequences in one or more nucleic acids contained in a sample.

Method of characterisation

It has been a problem that the identification of genomic DNA by restriction fragment length polymorphisms is limited, owing to the low level of genetic variation ordinarily detectable by cloned DNA in this method. The invention provides for improved identification by making use of the existence of DNA regions of hypervariability, otherwise called minisatellite regions in which the DNA contains tandem repeats or quasi-block copolymer sequences and the number of repeats or copolymer units varies considerably from one individual to another. It has now been found that many such regions can be probed simultaneously in such a way as to display this variability using a DNA or other polynucleotide probe of which the essential constituent is a short core sequence tandemly repeated at least 3 and preferably at least 10 times. The probing reveals differences in genomic DNA at multiple highly-polymorphic minisatellite regions to produce an individual-specific DNA 'fingerprint' of general use for genetic identification purposes. The 'core' used is typically a sequence of 6 to 16 nucleotides contained in or having a high degree of homology with a nucleotide sequence of formula GGAGGTGGGCAGGAXG (2) in which X is A or G, or AGAGGTGGGCAGGTGG (3) or GGAGGYGGGCAGCAGG (4) in which Y is C or T, or with a 12-15 nucleotide sequence of formula T(C).sub.m GGAGGAXGG(G).sub.p C (5A) or T(C).sub.m GGAGGA(A).sub.q GGGC (5B) in which X is A or G, M is 0, 1 or 2, p is 0 or 1, and q is 0 or 1, or GPGGGCWGGWXG (6) in which X is as above, P is not G, and W=A or G. The invention is particularly useful in paternity and maternity testing, forensic medicine and the diagnosis of genetic diseases and cancer.

Method of characterizing genomic DNA by reference to a genetic variable

Test samples of genomic DNA may be characterized by the use of polynucleotide probes each of which is specific for an informative genetic locus. Such probes may be prepared by the use of probes which are capable of differentiating DNA by reference to more than one polymorphic minisatellite region or hypervariable locus. The polynucleotides and probes of the invention are of use for genetic identification purposes, paternity and maternity testing and particularly in forensic medicine.

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Leicester, United Kingdom

Alec John Jeffreys