Detection of a large deletion in the P-selectin (SELP) gene.
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.
Pasquali
Alessandra
A
Department of Mother and Child, and Biology-Genetics, University of Verona, Strada le Grazie 8, Verona, Italy.
Trabetti
Elisabetta
E
Romanelli
Maria Grazia
MG
Galavotti
Roberta
R
Martinelli
Nicola
N
Girelli
Domenico
D
Gambaro
Giovanni
G
Olivieri
Oliviero
O
Pignatti
Pier Franco
PF
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
D019007:P-Selectin