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Thromb Haemost 1996; 76(02): 139-142
DOI: 10.1055/s-0038-1650542
Original Article
Schattauer GmbH Stuttgart

New Mutations Causing the Premature Termination of Translation in the A Subunit Gene of Coagulation Factor XIII

Sasichai Kangsadalampai
1   The Molecular Genetics Group, John Curtin School of Medical Research, Australian National University, Canberra, Australia
,
Anne Farges-Berth
2   The Centre Hospitalier General, De Longjumeau, France
,
S Hande Çaglayan
3   The Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey
,
Philip G Board
1   The Molecular Genetics Group, John Curtin School of Medical Research, Australian National University, Canberra, Australia
› Author Affiliations
Further Information

Publication History

Received 06 February 1996

Accepted after resubmission 26 April 1996

Publication Date:
10 July 2018 (online)

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Summary

The amplification of factor XIIIA subunit gene exons and heteroduplex analysis has been used to identify two new mutations that cause severe factor XIII deficiency. One mutation in a family of French origin results from a 4 bp deletion and leads to a premature termination of translation. The other mutation occurred in a Turkish family and results from a C → T transition that inserts a premature translation stop signal at codon 400. Both mutations alter restriction enzyme sites and can be readily detected in amplified exon DNA for genetic counselling or prenatal diagnosis. The new mutations reflect the extensive molecular heterogeneity of factor XIII deficiency.

 

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