title: Austrian Caucasian population data for the quadruplex plus amelogenin: refined mutation rate for HumvWFA31/A.
abstract: Human identification of biological specimens has undergone immense change since the development of PCR typing systems for forensic casework. In contrast to RFLP and VNTRs, STRs are the method of choice when the investigated genomic DNA is present in low quantity or in degraded shape. In the current study, the X-Y homologous gene Amelogenin has been added to a widely used multiplex PCR amplification system consisting of four tetrameric STR loci (Quadruplex-HumTH01, HumvWFA31/A, HumFES/FPS, and HumF13A1). The modified Quadruplex was used to type 382 unrelated Caucasians from Western Austria. The population data meet Hardy-Weinberg and linkage equilibrium expectations, and do not show significant deviations from either US, German, and Turkish Caucasian databases. In an investigation of 382 meioses, two mutations were revealed at the HumvWFA31/A locus. Consequently, the data in this paper provide the conditions for adding Amelogenin to the Quadruplex, and suggest that when doing paternity testing, the mutation rate for the HumvWFA31/A locus must be considered.
authors.affiliation: Institute for Forensic Medicine, University of Innsbruck, Austria.
authors.forename: E
authors.initials: E
authors.lastname: Ambach
authors.forename: W
authors.initials: W
authors.lastname: Parson
authors.forename: H
authors.initials: H
authors.lastname: Niederstätter
authors.forename: B
authors.initials: B
authors.lastname: Budowle
mesh_terms: D000483:Alleles; D053523:Amelogenin; D001317:Austria / Q000208:ethnology; D004247:DNA / Q000032:analysis / Q000235:genetics*; D003746:Dental Enamel Proteins / Q000235:genetics*; D005260:Female; D005554:Forensic Medicine / Q000379:methods; D054856:G-Quadruplexes; D005819:Genetic Markers / Q000235:genetics; D005828:Genetics, Population; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D009154:Mutation; D009690:Nucleic Acid Conformation; D016133:Polymerase Chain Reaction / Q000379:methods; D044465:White People / Q000235:genetics*
chemical_list: D053523:Amelogenin; D003746:Dental Enamel Proteins; D005819:Genetic Markers; D004247:DNA