High frequencies of short alleles of NOS1 (CA)n polymorphism in beta(0)39 carriers from Corsica Island (France)

I S Piras; A Falchi; A Melis; M C De Cian; C M Calò; G Vona; L Varesi

doi:10.1016/j.yexmp.2008.11.007

High frequencies of short alleles of NOS1 (CA)n polymorphism in beta(0)39 carriers from Corsica Island (France)

Exp Mol Pathol. 2009 Apr;86(2):136-7. doi: 10.1016/j.yexmp.2008.11.007. Epub 2008 Dec 6.

Authors

I S Piras¹, A Falchi, A Melis, M C De Cian, C M Calò, G Vona, L Varesi

Affiliation

¹ Department of Experimental Biology, University of Cagliari, Monserrato (CA), Italy. is.piras@tiscali.it

PMID: 19103196
DOI: 10.1016/j.yexmp.2008.11.007

Abstract

In this work we investigated about the presence of a correlation between a (CA)n repeat located in exon 29 of NOS1 gene and the beta-thalassemia trait in Corsica Island (France). We genotyped a sample of individuals with beta-thalassemia minor (N=110) and an ethnically matched control (N=113) from Balagna, a region of Corsica Island (France). Results highlighted the high frequencies of allele with 16 and 17 repeats in the thalassemic sample. From these results we suggest, that high frequencies of alleles with 16 and 17 repeats, could be a consequence of past malarial endemicity.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alleles*
Case-Control Studies
France
Genotype
Geography*
Heterozygote*
Humans
Nitric Oxide Synthase Type I / genetics*
Polymorphism, Genetic*
Repetitive Sequences, Nucleic Acid / genetics*
beta-Thalassemia / enzymology
beta-Thalassemia / genetics*

Substances

NOS1 protein, human
Nitric Oxide Synthase Type I