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Haplotype Structure of TP53 Locus in Indian Population and Possible Association with Head and Neck Cancer

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Title Haplotype Structure of TP53 Locus in Indian Population
and Possible Association with Head and Neck Cancer
 
Creator Mitra, S
Chatterjee, S
Panda, C K
Chaudhuri, Keya
Ray, Kunal
Bhattacharyya, Nitai Pada
Sengupta, A.
Roychoudhury, Susanta
 
Subject Molecular & Human Genetics
 
Description It has been proposed that a constellation of three TP53 polymorphisms (intron 3 16 bp duplication, codon 72 BstUI,
and intron 6 Nci I RFLP at nt 13494) constitute a haplotype predictive of increased cancer risk. We have estimated
the allele frequency of these polymorphisms in three endogamous Indian ethnic populations from three different
geographic locations (viz. Iyer from south India, Brahmin from central India and Mahishya from eastern India), as
well as in head and neck squamous cell carcinoma (HNSCC) patients, and in ethnically matched normal individuals
from the eastern region of India. The genotype distributions and allele frequencies of the three polymorphisms in
all but one population, as well as in patients, showed a good fit to Hardy-Weinberg equilibrium. Strong linkage
disequilibria were observed between all loci in every population examined, except for the 16bp-Nci I haplotype
in the Mahishya population. The Mahishya population differed significantly from the other two populations with
respect to differences in allele frequency and haplotype frequency. Although there were no significant differences in
genotypic frequency at any of the loci between HNSCC patients and the matched control population, the minor
allele frequency of codon 72 and intron 3 16 bp polymorphisms showed significant variation. Variation in overall
haplotype frequency between patients and normal individuals was significant (p = 0.036) when two rare haplotypes
2-1-2 and 1-2-1 were combined. The rare haplotype 2-1-2 was found to be modestly over represented in HNSCC
patients as compared to normal individuals.
 
Publisher Blackwell Publishing
 
Date 2003
 
Type Article
PeerReviewed
 
Format application/pdf
 
Identifier http://www.eprints.iicb.res.in/591/1/ANNALS_OF_HUMAN_GENETICS%2C_67%2C_26%2D34[88].pdf
Mitra, S and Chatterjee, S and Panda, C K and Chaudhuri, Keya and Ray, Kunal and Bhattacharyya, Nitai Pada and Sengupta, A. and Roychoudhury, Susanta (2003) Haplotype Structure of TP53 Locus in Indian Population and Possible Association with Head and Neck Cancer. Annals Of Human Genetics, 67. pp. 26-34.
 
Relation http://dx.doi.org/10.1046/j.1469-1809.2003.00005.x
http://www.eprints.iicb.res.in/591/