Genetic variability, mutation and recombination in human and animal DNA

Project Supervisor: Professor Sir Alec J. Jeffreys F.R.S.

We are using molecular genetic techniques to study variation in human and animal DNA and to explore the mutation and recombination processes that drive genomic sequence diversity. Much of this work concentrates on highly variable loci that were initially developed for forensic DNA analysis, gene mapping, human population genetic studies and conservation biology.

We are using experimental approaches such as single sperm typing and analysis of transgenic mice to understand processes of tandem repeat instability, to dissect the complex mutation pathways operating in the germline, and to begin to define the molecular basis of human meiotic recombination.

We are also extending these studies to the analysis of mutations induced in human populations by environmental agents such as ionising radiation. In addition, we are attempting to develop single molecule methods for detecting and quantifying other classes of mutation in the human genome.


Jeffreys, A.J. et al. (1985) Nature 314, 67-73.
Jeffreys, A.J. et al. (1994) Nature Genetics 6, 136-145.
Dubrova, Y.E. et al. (1996) Nature 380, 683-686.
Jeffreys, A.J. et al. (1998) EMBO Journal 17, 4147-4157.
Dubrova, Y.E. et al. (1998) Proc. Natl. Acad. Sci. U. S. A. 95, 6251-6255.
Buard, J. et al. (1998) EMBO Journal 17, 3495-3502.
Jeffreys, A.J. et al. (1998) Molecular Cell 2, 267-273.
Tamaki, K. et al. (1999) Human Molecular Genetics 8, 879-888.


Minisatellites, Genetic variability


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Last updated: 8 September, 2005
Celia A. May
The views expressed in this document are those of the document owner, Alec J. Jeffreys.