Biology Faculty Articles
Document Type
Article
Publication Date
1-2012
Publication Title
The Scientific World Journal
ISSN
2356-6140
Volume
2012
First Page
Article ID 917235
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.
NSUWorks Citation
Balamurugan, Kuppareddi; Martin L. Tracey; Uwe Heine; George C. Maha; and George Duncan. 2012. "Mutation at the Human D1S80 Minisatellite Locus." The Scientific World Journal 2012, (): Article ID 917235. doi:10.1100/2012/917235.
DOI
10.1100/2012/917235
Comments
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.