title: Detection of a large deletion in the P-selectin (SELP) gene.
abstract: P-selectin is an adhesion molecule involved in the pathogenesis of inflammation, thrombosis, and oncogenesis. In this study of 51 polymorphisms in candidate genes for cardiovascular disease in 1561 individuals, we identified a new allelic variant of the SELP gene, g.18196_20704del, that determined the lack of genotyping for one polymorphism in one individual. It is a deletion of 2509 nucleotides which starts in intron 6 and ends in intron 8. Re-genotyping of 1023 apparent homozygotes indicated an overall allele frequency of 0.27%. The inclusion of this allelic variant in genetic association studies will avoid genotyping errors and marginally improve the sensitivity.
authors: Department of Mother and Child, and Biology-Genetics, University of Verona, Strada le Grazie 8, Verona, Italy.
authors: Alessandra
authors: A
authors: Pasquali
authors: Elisabetta
authors: E
authors: Trabetti
authors: Maria Grazia
authors: MG
authors: Romanelli
authors: Roberta
authors: R
authors: Galavotti
authors: Nicola
authors: N
authors: Martinelli
authors: Domenico
authors: D
authors: Girelli
authors: Giovanni
authors: G
authors: Gambaro
authors: Oliviero
authors: O
authors: Olivieri
authors: Pier Franco
authors: PF
authors: Pignatti
mesh_terms: D001483:Base Sequence; D003324:Coronary Artery Disease / Q000235:genetics*; D017353:Gene Deletion; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D019007:P-Selectin / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D019007:P-Selectin