title: High frequencies of short alleles of NOS1 (CA)n polymorphism in beta(0)39 carriers from Corsica Island (France).
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.
authors.affiliation: Department of Experimental Biology, University of Cagliari, Monserrato (CA), Italy. is.piras@tiscali.it
authors.forename: I S
authors.initials: IS
authors.lastname: Piras
authors.forename: A
authors.initials: A
authors.lastname: Falchi
authors.forename: A
authors.initials: A
authors.lastname: Melis
authors.forename: M C
authors.initials: MC
authors.lastname: De Cian
authors.forename: C M
authors.initials: CM
authors.lastname: Calò
authors.forename: G
authors.initials: G
authors.lastname: Vona
authors.forename: L
authors.initials: L
authors.lastname: Varesi
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D005602:France; D005838:Genotype; D005843:Geography; D006579:Heterozygote; D006801:Humans; D052248:Nitric Oxide Synthase Type I / Q000235:genetics*; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D017086:beta-Thalassemia / Q000201:enzymology / Q000235:genetics*
chemical_list: C496320:NOS1 protein, human; D052248:Nitric Oxide Synthase Type I