Thromb Haemost 1996; 76(03): 393-396
DOI: 10.1055/s-0038-1650589
Original Article
Schattauer GmbH Stuttgart

Two New Frequent Dimorphisms in the Protein S (PROS1) Gene*

Stefan Mustafa
1   The Department of Internal Medicine, Division of Haematology and Haemostaseology, University Vienna Medical School, Vienna, Austria
,
Ingrid Pabinger
2   The Department of Laboratory Medicine, Molecular Biology Division, University Vienna Medical School, Vienna, Austria
1   The Department of Internal Medicine, Division of Haematology and Haemostaseology, University Vienna Medical School, Vienna, Austria
,
Christine Mannhalter
1   The Department of Internal Medicine, Division of Haematology and Haemostaseology, University Vienna Medical School, Vienna, Austria
› Author Affiliations
Further Information

Publication History

Received 28 February 1996

Accepted after resubmission 14 May 1996

Publication Date:
10 July 2018 (online)

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Summary

Two new polymorphisms were identified in the proteinS gene (PR0S1): an intronic T/A-dimorphism (PIPS1) in intron K, and an exonic C/A-dimorphism (PEPS2), located in the 3'untranslated trailer of exon 15. Allelic frequencies of 24% (PIPS 1-A) and 17% (PEPS2-A) respectively, were determined in the normal population. The identification of an intronic and an exonic PR0S1 dimorphism, in addition to the known BstXI dimorphism, enlarges the molecular tool box for gene analysis and transcript quantification in hereditary protein S deficiency. Haplotype analysis showed that variability of both new polymorphisms occurred almost exclusively in the A-allele of the known intragenic BstXI dimorphism. Therefore, PEPS2 and PIPS1 are especially valuable in individuals homozygous for the BstXI A-variant.