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Mutations of von Willebrand factor gene in families with von Willebrand disease in the Aland Islands.

Authors :
Zhang ZP
Blombäck M
Nyman D
Anvret M
Source :
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 1993 Sep 01; Vol. 90 (17), pp. 7937-40.
Publication Year :
1993

Abstract

Patients with von Willebrand disease in four families in the Aland Islands, including the original family that was described in 1926 by the Finnish physician von Willebrand, were screened for mutations in the Swedish "hot-spot" regions (exons 18, 28, 32, 43, and 45) of the von Willebrand factor gene. One cytosine deletion in exon 18 was detected in each of these families. Linkage analysis and genealogical studies suggest that the deletion present in these four families probably has an origin in common with the mutations in the Swedish patients. Apart from the deletion in exon 18, two close transitions (G-->A at S1263 and C-->T at P1266) in exon 28 on the same chromosome were identified in one individual who married into the original family and in his two children. The transitions could be due to a recombination between the von Willebrand factor gene and its pseudogene.

Details

Language :
English
ISSN :
0027-8424
Volume :
90
Issue :
17
Database :
MEDLINE
Journal :
Proceedings of the National Academy of Sciences of the United States of America
Publication Type :
Academic Journal
Accession number :
8367445
Full Text :
https://doi.org/10.1073/pnas.90.17.7937