mtGenome reference population databases and the future of forensic mtDNA analysis

Irwin,J.A.; Parson,W.; Coble,M.D.; Just,R.S.; Mitochondrial DNA (mtDNA) testing in the forensic context requires appropriate, high quality population databases for estimating the rarity of questioned haplotypes. Currently, however, available forensic mtDNA reference databases only include information from the mtDNA control region. While this information is obviously strengthening the foundation upon which current mtDNA identification efforts are based, these data do not adequately prepare the field for recent and rapid advancements in mtDNA typing technologies. [Read More]

PopAffiliator: online calculator for individual affiliation to a major population group based on 17 autosomal short tandem repeat genotype profile

Pereira,L.; Alshamali,F.; Andreassen,R.; Ballard,R.; Chantratita,W.; Cho,N.S.; Coudray,C.; Dugoujon,J.M.; Espinoza,M.; Gonzalez-Andrade,F.; Hadi,S.; Immel,U.D.; Marian,C.; Gonzalez-Martin,A.; Mertens,G.; Parson,W.; Perone,C.; Prieto,L.; Takeshita,H.; Rangel,Villalobos H.; Zeng,Z.; Zhivotovsky,L.; Camacho,R.; Fonseca,N.A.; Because of their sensitivity and high level of discrimination, short tandem repeat (STR) maker systems are currently the method of choice in routine forensic casework and data banking, usually in multiplexes up to 15-17 loci. Constraints related to sample amount and quality, frequently encountered in forensic casework, will not allow to change this picture in the near future, notwithstanding the technological developments. [Read More]

Presentation of 17 Y-chromosomal STRs in the population of the Sverdlovsk region

Trynova,E.G.; Tsitovich,T.N.; Vylegzhanina,E.Y.; Bandurenko,N.A.; Parson,W.; We established a data set of 17 Y-STRs (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a/b, DYS438, DYS439, DYS437, DYS448, DYS456, DYS458, DYS635 and Y-GATA-H4) of 832 unrelated males from the Sverdlovsk region, Russian Federation. In total we observed 773 different haplotypes of which 732 were unique and 41 occurred between two and nine times in the investigated population. The haplotype diversity was 0.9981 and the discrimination capacity was 0. [Read More]

Quality evaluation of tandem mass spectral libraries

Oberacher,H.; Dresen,S.; Weimann,W; Tandem mass spectral libraries are gaining more and more importance for the identification of unknowns in different fields of research, including metabolomics, forensics, toxicology, and environmental analysis. Particularly, the recent invention of reliable, robust, and transferable libraries has increased the general acceptance of these tools. Herein, we report on results obtained from thorough evaluation of the match reliabilities of two tandem mass spectral libraries: the MSforID library established by the Oberacher group in Innsbruck and the Weinmann library established by the Weinmann group in Freiburg. [Read More]

Reconstructing the Indian origin and dispersal of the European Roma: a maternal genetic perspective

Mendizabal,I.; Valente,C.; Gusmao,A.; Alves,C.; Gomes,V.; Goios,A.; Parson,W.; Calafell,F.; Alvarez,L.; Amorim,A.; Gusmao,L.; Comas,D.; Prata,M.J.; Previous genetic, anthropological and linguistic studies have shown that Roma (Gypsies) constitute a founder population dispersed throughout Europe whose origins might be traced to the Indian subcontinent. Linguistic and anthropological evidence point to Indo-Aryan ethnic groups from North-western India as the ancestral parental population of Roma. Recently, a strong genetic hint supporting this theory came from a study of a private mutation causing primary congenital glaucoma. [Read More]