A study of mutation rates and the characterisation of intermediate, null and duplicated alleles for 13 Y chromosome STRs

• Published in: Forensic science international Vol. 155; no. 1; pp. 65 - 70
• Main Authors: Ballard, D.J., Phillips, C., Wright, G., Thacker, C.R., Robson, C., Revoir, A.P., Court, D. Syndercombe
• Format: Journal Article
• Language: English
• Published: Kidlington Elsevier Ireland Ltd 01.12.2005; Elsevier; Elsevier Limited
• Subjects: Biological and medical sciences; Chromosomes, Human, Y; Confidence intervals; DNA Fingerprinting; Forensic medicine; Forensic sciences; Gene Frequency; General aspects; Genetic Linkage; Genetic testing; Genetics; Genomics; Haplotypes; Humans; Investigative techniques, diagnostic techniques (general aspects); Male; Medical sciences; Mutation; Mutation rates; Paternity; Polymerase Chain Reaction; Public health. Hygiene; Public health. Hygiene-occupational medicine; Sequence Analysis, DNA; STR polymorphisms; Tandem Repeat Sequences; UK populations; Y Chromosome; United Kingdom; Europe; United Kingdom > UK; UK populations; Mutation rates; Y Chromosome; STR polymorphisms; Human; Genetic variability; Forensic science; Legal medicine; Rate; Silent allele; Chromosome D13; Genotype; Forensic aspect; Y-Chromosome; Tandemly repeated sequence; Population genetics; Microsatellite DNA; Null mutation; Population; Chromosome 13; Polymorphism
• ISSN: 0379-0738; 1872-6283
• DOI: 10.1016/j.forsciint.2004.12.012

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.