Long D13S317 variant allele: a cautionary case report
Related Experiment Video
Updated: Apr 23, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
1Laboratory of Forensic Biology, Department of Forensic Medicine, Hjelt Institute, P.O. Box 40, FI-00014 University of Helsinki, Finland.
Abstract:
Exclusion at locus D13S317 between a father and child was observed in a kinship case, which at first glance appeared as a silent allele. However, a closer inspection using three commercial kits showed that the observed pattern is due to a long variant allele overlapping with different loci in different kits. Sequencing of the variant revealed a duplication within D13S317, that had also created an additional binding site for short amplicon reverse primer. If ignored, genotyping results including this variant may be wrongly interpreted.
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Incomplete Dominance
Non-LTR Retrotransposons
Principles of Pharmacogenetics: Types of Genetic Variants
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon...

