Discovery and identification of new D13S317 primer binding site mutations

Grgicak, Catherine M.; Rogers, Sue; Mauterer, Carl

doi:10.1016/j.forsciint.2005.02.030

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Volume 157, Issue 1 , Pages 36-39, 10 February 2006

Discovery and identification of new D13S317 primer binding site mutations

Alabama Department of Forensic Sciences, Forensic Biology/DNA Section, 501 12th Street South, Birmingham, AL 35233, USA

Received 27 September 2004; received in revised form 14 February 2005; accepted 17 February 2005. published online 11 August 2005.

Abstract

During the course of conventional testing of CODIS standards at the Alabama Department of Forensic Sciences, a sample with a heterozygous null genotype at D13S317 was discovered using the PowerPlex^® 1.1 kit (Promega, Madison, WI). The loss of both alleles was confirmed when the sample was amplified using PowerPlex^® 1.2 primers and resulted in a 9, 10 genotype at this locus. To determine the cause of the silent alleles, the ADFS designed D13S317 primers which encompassed the PowerPlex 1.1 D13S317 primer binding sites and sequenced the region. Both alleles showed the presence of two substitutions (T→A and G→T) at positions 1 and 5 (5′→3′) of the reverse primer (positions 196 and 200 of the sequence in GenBank accession number G09017). Since the mutations were identical on both alleles, they may be assumed to be of ancestral origin.