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The Scientific World Journal
Volume 2012 (2012), Article ID 917235, 8 pages
http://dx.doi.org/10.1100/2012/917235
Research Article

Mutation at the Human D1S80 Minisatellite Locus

1School of Criminal Justice, University of Southern Mississippi, 118 College Drive # 5127, Hattiesburg, MS 39406, USA
2Department of Biology, Florida International University, University Park Campus, Miami, FL 33199, USA
3DNA Identification Testing Division, Laboratory Corporation of America, 1440 York Court Extension, Burlington, NC 27215, USA
4Broward County Sheriff's Office, Forensic Laboratory DNA Unit, Fort Lauderdale, FL 33301, USA

Received 30 October 2011; Accepted 5 January 2012

Academic Editors: P. Momigliano Richiardi, P. Y. Woon, and N. Zhang

Copyright © 2012 Kuppareddi Balamurugan et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Little is known about the general biology of minisatellites. The purpose of this study is to examine repeat mutations from the D1S80 minisatellite locus by sequence analysis to elucidate the mutational process at this locus. This is a highly polymorphic minisatellite locus, located in the subtelomeric region of chromosome 1. We have analyzed 90,000 human germline transmission events and found seven (7) mutations at this locus. The D1S80 alleles of the parentage trio, the child, mother, and the alleged father were sequenced and the origin of the mutation was determined. Using American Association of Blood Banks (AABB) guidelines, we found a male mutation rate of 1.04×10-4 and a female mutation rate of 5.18×10-5 with an overall mutation rate of approximately 7.77×10-5. Also, in this study, we found that the identified mutations are in close proximity to the center of the repeat array rather than at the ends of the repeat array. Several studies have examined the mutational mechanisms of the minisatellites according to infinite allele model (IAM) and the one-step stepwise mutation model (SMM). In this study, we found that this locus fits into the one-step mutation model (SMM) mechanism in six out of seven instances similar to STR loci.