Protein S mRNA in patients with protein S deficiency

E. Sacchi, M. Pinotti, G. Marchetti, G. Merati, L. Tagliabue, P. M. Mannucci, F. Bernardi

Research output: Contribution to journalArticlepeer-review

Abstract

A protein S gene polymorphism, detectable by restriction analysis (BstXI) of amplified exonic sequences (exon 15), was studied in seven Italian families with protein S deficiency. In the 17 individuals heterozygous for the polymorphism the study was extended to platelet mRNA through reverse transcription, amplification and densitometric analysis. mRNA produced by the putative defective protein S genes was absent in three families and reduced to a different extent (as expressed by altered allelic ratios) in four families. The allelic ratios helped to distinguish total protein S deficiency (type I) from free protein S deficiency (type IIa) in families with equivocal phenotypes. This study indicates that the study of platelet mRNA, in association with phenotypic analysis based upon protein S assays in plasma, helps to classify patients with protein S deficiency.

Original languageEnglish
Pages (from-to)746-749
Number of pages4
JournalThrombosis and Haemostasis
Volume73
Issue number5
Publication statusPublished - 1995

ASJC Scopus subject areas

  • Hematology

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