title: Non-uniform phenotyping of D12S391 resolved by second generation sequencing.
abstract: Non-uniform phenotyping of five case work samples were observed in the D12S391 locus. The samples were typed at least twice with the AmpFℓSTR NGM SElect PCR Amplification Kit and different alleles were called with GeneMapper ID-X in the different experiments. Detailed analyses of the electropherograms suggested that the individuals were heterozygous with two alleles that differed in size by one nucleotide. This was confirmed by amplifying the samples with the PowerPlex ESX 17 system. D12S391 is a complex STR with variable numbers of AGAT and AGAC repeats. Second generation sequencing revealed that separation of two alleles differing by one nucleotide in length was poor if the number of AGAT repeats in the short allele was higher than in the long allele. A total of 45 individuals with microvariants or off-ladder alleles in D12S391 were sequenced. Thirty different alleles were detected and sixteen of these were not previously reported.
authors: Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark(1).
authors: S
authors: S
authors: Dalsgaard
authors: E
authors: E
authors: Rockenbauer
authors: A
authors: A
authors: Buchard
authors: H S
authors: HS
authors: Mogensen
authors: R
authors: R
authors: Frank-Hansen
authors: C
authors: C
authors: Børsting
authors: N
authors: N
authors: Morling
mesh_terms: D000483:Alleles; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods*; D017422:Sequence Analysis, DNA
keywords: D12S391; Forensic genetics; Phenotyping accuracy; STR; Second generation sequencing