title: Global population variability in Promega PowerPlex CS7, D6S1043, and Penta B STRs.
abstract: Supplementary short tandem repeats (STRs) can be added to forensic DNA analyses when core markers fail to provide sufficient discrimination power in identity and relationship testing. We combined D6S1043 and Penta B with Promega's PowerPlex CS7 supplementary STR kit, comprising Pentas D and E plus LPL, F13A01, FES/FPS, F13B, and Penta C. The nine STRs were typed in 941 individuals from 51 diverse populations of the CEPH Human Genome Diversity Panel (HGDP-CEPH), and we report allele frequency estimates plus rare alleles identified. Both Penta B and D6S1043 show highly informative variation in all populations, exceeding most CS7 STRs and raising cumulative random match probabilities by at least two orders of magnitude. However, Penta B genotype distributions show an excess of homozygotes across all HGDP-CEPH population groups indicating likely allele dropout from uncharted SNP or Indel variation at the primer sites chosen to type this STR. The first sequence analysis of common regular and rare intermediate D6S1043 alleles is reported. D6S1043 .3 intermediate alleles were found to occur at a high frequency in Native Americans, providing scope for differentiation of this group.
authors.affiliation: Forensic Genetics Unit, Institute of Legal Medicine, Faculty of Medicine, University of Santiago de Compostela, Galicia, Spain. c.phillips@mac.com
authors.forename: C
authors.initials: C
authors.lastname: Phillips
authors.forename: S
authors.initials: S
authors.lastname: Kind
authors.forename: L
authors.initials: L
authors.lastname: Fernandez-Formoso
authors.forename: M
authors.initials: M
authors.lastname: Gelabert-Besada
authors.forename: A
authors.initials: A
authors.lastname: Carracedo
authors.forename: M V
authors.initials: MV
authors.lastname: Lareu
mesh_terms: D016172:DNA Fingerprinting / Q000295:instrumentation*; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D018895:Microsatellite Repeats; D044469:Racial Groups / Q000235:genetics*; D017422:Sequence Analysis, DNA