Abstract
Short tandem repeat (STR) typing has been regularly used in paternity disputes and forensic human identification linked caseworks. Occasionally, forensic scientists come across aberrant allele patterns during STR typing because of mutations, genetic variations, and other abnormalities. The tri-allelic pattern of STR is rare, particularly, the case where this pattern exists at 4 loci. Here, we report the type II tri-allelic patterns observed at vWA, SE33, D8S1179, and D13S317 loci in the product of conception (POC) sample during the course of our regular paternity case investigation. The DNA extracted from the blood samples and tissue of POC were subjected to STR typing for autosomal and sex STR loci using the commercial QIAGEN’s Investigator® IDplex Plus Kit and QIAGEN’s Investigator® 24plex QS Kit. Capillary electrophoresis was carried out in 3500 and 3500xL Genetic Analyzer Applied Biosystems and genotyped using GeneMapper ID-X Software v1.5 and v1.6. In this case of paternity inclusion, the POC sample displayed type II tri-allelic patterns at vWA (16, 19, 20), SE33 (19, 28.2, 29.2), D13S317 (16, 19, 20), and D8S1179 (10, 13, 17) loci. In addition, the POC displayed an abnormal genotype with a heterozygous peak imbalance (type II-B) of (1:2) pattern at D3S1358, D21S11, and D16S539 loci, of (2:1) pattern at D1S1656, D12S391, D10S1248, D2S1338, D2S441, D18S317, FGA, CSF1PO, and D5S818 loci, and type II-C allelic pattern (one single peak with triplicate height) at D19S433 and DS7820 loci. Understanding of such anomalous genotypes improves the knowledge about tri-allelic pattern of CODIS loci and helps in the appropriate interpretation of the results in STR typing.
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Acknowledgements
This is a routine work at the DNA Division, Regional Forensic Science Laboratory, Nagpur, Maharashtra, India. Authors are thankful to the Director General, (Legal & Technical) Home Department, Government of Maharashtra, and the Director, Directorate of Forensic Science Laboratories (DFSL), Mumbai, for providing the support, facility, constant encouragement, and sound atmosphere to conduct the work. Authors are also thankful to Rushil Shailen Bhat (Sales Application Specialist, QIAGEN India Pvt. Ltd.) for helpful discussions.
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Gavale, K.S., Mahajan, V.B., Pande, A.A. et al. A rare case of type II tri-allelic inheritance at vWA, SE33, D8S1179, and D13S317 loci demonstrated by STR analysis in paternity testing. Forensic Sci Med Pathol (2024). https://doi.org/10.1007/s12024-024-00792-w
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DOI: https://doi.org/10.1007/s12024-024-00792-w