Consistent treatment of length variants in the human mtDNA control region: a reappraisal

Bandelt,H.J.; Parson,W.; In forensic science, as well as in molecular anthropology and medical genetics, human mitochondrial DNA (mtDNA) variation is being recorded by aligning mtDNA sequences to the revised Cambridge reference sequence (rCRS). This task is straightforward for the vast majority of nucleotide positions but appears to be difficult for some short sequence stretches, namely, in regions displaying length variation. Earlier guidelines for imposing a unique alignment relied on binary alignment to a standard sequence (the rCRS) and used additional priority rules for resolving ambiguities. [Read More]

Correlation between genetic and geographic structure in Europe

Lao,O.; Lu,T.T.; Nothnagel,M.; Junge,O.; Freitag-Wolf,S.; Caliebe,A.; Balascakova,M.; Bertranpetit,J.; Bindoff,L.A.; Comas,D.; Holmlund,G.; Kouvatsi,A.; Macek,M.; Mollet,I.; Parson,W.; Palo,J.; Ploski,R.; Sajantila,A.; Tagliabracci,A.; Gether,U.; Werge,T.; Rivadeneira,F.; Hofman,A.; Uitterlinden,A.G.; Gieger,C.; Wichmann,H.E.; Ruther,A.; Schreiber,S.; Becker,C.; Nurnberg,P.; Nelson,M.R.; Krawczak,M.; Kayser,M.; Understanding the genetic structure of the European population is important, not only from a historical perspective, but also for the appropriate design and interpretation of genetic epidemiological studies. Previous population genetic analyses with autosomal markers in Europe either had a wide geographic but narrow genomic coverage [1, 2], or vice versa [3-6]. [Read More]

Forensic typing of autosomal SNPs with a 29 SNP-multiplex--results of a collaborative EDNAP exercise

Sanchez,J.J.; Borsting,C.; Balogh,K.; Berger,B.; Bogus,M.; Butler,J.M.; Carracedo,A.; Court DS; Dixon,L.A.; Filipovic,B.; Fondevila,M.; Gill,P.; Harrison,C.D.; Hohoff,C.; Huel,R.; Ludes,B.; Parson,W.; Parsons,T.J.; Petkovski,E.; Phillips,C.; Schmitter,H.; Schneider,P.M.; Vallone,P.M.; Morling,N.; We report the results of an inter-laboratory exercise on typing of autosomal single nucleotide polymorphisms (SNP) for forensic genetic investigations in crime cases. The European DNA Profiling Group (EDNAP), a working group under the International Society for Forensic Genetics (ISFG), organised the exercise. A total of 11 European and one US forensic genetic laboratories tested a subset of a 52 SNP-multiplex PCR kit developed by the SNPforID consortium. [Read More]