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Thromb Haemost 1995; 73(05): 746-749
DOI: 10.1055/s-0038-1653862
Original Articles
Clinical Studies
Schattauer GmbH Stuttgart

Protein S mRNA in Patients with Protein S Deficiency

E Sacchi
The Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital and University of Milano, Italy
,
M Pinotti
1   Centro di Studi Biochimici delle Patologie del Genoma Umano, Dipartimento Biochimica e Biologia Molecolare, Università di Ferrara, Italy
The Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital and University of Milano, Italy
,
G Marchetti
1   Centro di Studi Biochimici delle Patologie del Genoma Umano, Dipartimento Biochimica e Biologia Molecolare, Università di Ferrara, Italy
The Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital and University of Milano, Italy
,
G Merati
The Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital and University of Milano, Italy
,
L Tagliabue
The Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital and University of Milano, Italy
,
P M Mannucci
The Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital and University of Milano, Italy
,
F Bernardi
1   Centro di Studi Biochimici delle Patologie del Genoma Umano, Dipartimento Biochimica e Biologia Molecolare, Università di Ferrara, Italy
The Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital and University of Milano, Italy
› Author Affiliations
Further Information

Publication History

Received 05 October 1994

Accepted after resubmission 16 January 1995

Publication Date:
26 July 2018 (online)

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Summary

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.

 

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