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

Giovanni Gambaro, Alessandra Pasquali, Elisabetta Trabetti, Maria Grazia Romanelli, Roberta Galavotti, Nicola Martinelli, Domenico Girelli, Oliviero Olivieri, Pier Franco Pignatti

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

6 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)161-165
Numero di pagine5
RivistaMolecular and Cellular Probes
Volume24
Stato di pubblicazionePubblicato - 2010

Keywords

  • P-selectin
  • gene

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