title: Y chromosomal STR analysis using Pyrosequencing technology.
abstract: Analysis of Y chromosome STR markers has proven to be useful in forensic cases where the samples contain a mixture of DNA from several individuals. STR markers are commonly genotyped based on length separation of PCR products. In this study we evaluated if Pyrosequencing can be used as an alternative method for determining Y-STR variants. In total 70 unrelated Swedish males were typed for the Y chromosomal markers (DYS19, DYS389 I-II, DYS390, DYS391, DYS392, DYS393 and DYS438) using Pyrosequencing. Using the 8 markers, 57 unique haplotypes were observed with a discrimination capacity of 0.81. At four loci, the Pyrosequencing analysis revealed sequence variants. The sequence variants were found in the DYS389 II, DYS390, DYS391, and DYS393 loci in frequencies between 1.43% and 14.3%. Pyrosequencing has here been shown to be a useful tool for typing Y chromosomal STRs and the method can provide a complement to conventional forensic Y STR analyses. Moreover, the Pyrosequencing method can be used to rapidly evaluate novel markers.
authors.affiliation: Uppsala University, Department of Genetics and Pathology, Rudbeck Laboratory, 751 85 Uppsala, Sweden.
authors.forename: Hanna
authors.initials: H
authors.lastname: Edlund
authors.forename: Marie
authors.initials: M
authors.lastname: Allen
mesh_terms: D000483:Alleles; D041322:Chromosomes, Human, Y; D004247:DNA / Q000235:genetics; D016172:DNA Fingerprinting; D017931:DNA Primers; D053803:Forensic Genetics / Q000379:methods; D005787:Gene Frequency; D005819:Genetic Markers; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA / Q000379:methods*; D013548:Sweden
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; D004247:DNA