title: A study of mutation rates and the characterisation of intermediate, null and duplicated alleles for 13 Y chromosome STRs.
abstract: Previously reported Y chromosome STR haplotype databases for three UK population groups, plus additionally analysed samples, have been scrutinised for the presence of non-standard (intermediate, null and duplicated) alleles. These alleles have been characterised by sequencing, some showing changes in the repeat structure, and the frequencies reported. Mutation rates for each of the 13 STRs have been calculated when analysis of father-son pairs has been possible. An example illustrating the use of non-standard alleles in a large family tree is outlined.
authors.affiliation: Department of Haematology, Barts and The London, Queen Mary's School of Medicine and Dentistry, Turner Street, London E1 2AD, UK. d.j.ballard@qmul.ac.uk
authors.forename: D J
authors.initials: DJ
authors.lastname: Ballard
authors.forename: C
authors.initials: C
authors.lastname: Phillips
authors.forename: G
authors.initials: G
authors.lastname: Wright
authors.forename: C R
authors.initials: CR
authors.lastname: Thacker
authors.forename: C
authors.initials: C
authors.lastname: Robson
authors.forename: A P
authors.initials: AP
authors.lastname: Revoir
authors.forename: D Syndercombe
authors.initials: DS
authors.lastname: Court
mesh_terms: D041322:Chromosomes, Human, Y; D016172:DNA Fingerprinting; D005787:Gene Frequency; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D020080:Tandem Repeat Sequences