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.

Detection of a large deletion in the P-selectin (SELP) gene

PASQUALI, Alessandra;TRABETTI, Elisabetta;ROMANELLI, Maria;GALAVOTTI, Roberta;MARTINELLI, Nicola;GIRELLI, Domenico;Gambaro G.;OLIVIERI, Oliviero;PIGNATTI, Pierfranco
2010-01-01

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.
2010
deletion; gene; P-selectin
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/339380
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