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Mutation at the Human D1S80 Minisatellite Locus
Joint Authors
Heine, Uwe
Duncan, George T.
Tracey, Martin L.
Balamurugan, Kuppareddi
Maha, George C.
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-05-03
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Natural & Life Sciences (Multidisciplinary)
Medicine
Information Technology and Computer Science
Abstract EN
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.
American Psychological Association (APA)
Balamurugan, Kuppareddi& Tracey, Martin L.& Heine, Uwe& Maha, George C.& Duncan, George T.. 2012. Mutation at the Human D1S80 Minisatellite Locus. The Scientific World Journal،Vol. 2012, no. 2012, pp.1-8.
https://search.emarefa.net/detail/BIM-507935
Modern Language Association (MLA)
Balamurugan, Kuppareddi…[et al.]. Mutation at the Human D1S80 Minisatellite Locus. The Scientific World Journal No. 2012 (2012), pp.1-8.
https://search.emarefa.net/detail/BIM-507935
American Medical Association (AMA)
Balamurugan, Kuppareddi& Tracey, Martin L.& Heine, Uwe& Maha, George C.& Duncan, George T.. Mutation at the Human D1S80 Minisatellite Locus. The Scientific World Journal. 2012. Vol. 2012, no. 2012, pp.1-8.
https://search.emarefa.net/detail/BIM-507935
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-507935