Article
Complex gene conversion events in germline mutation at human minisatellites.
Nature genetics - 1 Feb 1994
Jeffreys A J, Tamaki K, MacLeod A, Monckton D G, Neil D L, Armour J A
Abstract excerpt
Mutation at the human minisatellites MS32, MS205 and MS31A has been investigated by characterizing mutant alleles in pedigrees and in the case of MS32 by direct analysis of mutant molecules in single sperm. Most mutations at all three loci are polar, involving the preferential gain of a few repea...
Topics
- Alleles
- DNA, Satellite
- Gene Amplification
- Gene Conversion
- Germ-Line Mutation
- Humans
- Male
- Models, Genetic
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Repetitive Sequences, Nucleic Acid
- Spermatozoa
