Biology Faculty Articles
Document Type
Article
Publication Date
4-2010
Publication Title
Human Biology
Keywords
D1S80 locus, HINfl-Fnu4HI polymorphism, Minisatellite, SNP, Tamil population, Linkage disequilibrium
ISSN
0018-7143
Volume
82
Issue/No.
2
First Page
221
Last Page
226
Abstract
D1S80 is a 16-bp variable number of tandem repeats minisatellite. We analyzed single nucleotide polymorphisms (SNPs) flanking this locus in a Tamil population. Alleles ranged from 15 through 41 repeats, with alleles 18 and 24 being predominant with frequencies of 31% and 34.5%, respectively, suggesting a bimodal allelic distribution. All the 18-repeat alleles are associated with HinfI(+) and Fnu4HI(-) restriction site polymorphisms at the 5. and 3. ends, respectively. Allele 24 is associated with HinfI(-) and Fnu4HI(+). Of the alleles tested, 98.5% have a linkage of two specific SNP polymorphisms. If an allele is positive for HinfI, then it is negative for Fnu4HI, and if an allele is negative for HinfI, it is then positive for Fnu4HI, which demonstrates strong linkage disequilibrium between the two polymorphic SNPs. This suggests that reciprocal crossover is not involved in changes in the number of repeats, as few exchanges are seen in the flanking regions. The repeat allele- SNP association might be involved with the internal structure of the locus micropolymorphisms, possibly a double-strand break hotspot.
NSUWorks Citation
Balamurugan, Kuppareddi; Robert S. Pomeroy; George Duncan; and Martin Tracey. 2010. "Investigating SNPs Flanking the D1S80 Locus in a Tamil Population from India." Human Biology 82, (2): 221-226. doi:https://muse.jhu.edu/article/389324.
ORCID ID
0000-0002-4931-5316
DOI
https://muse.jhu.edu/article/389324
Comments
©2010 Wayne State University Press