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UHG-based mutation screening in type 2B von Willebrand's disease: detection of a candidate mutation Ser547Phe

Wood, Nicola Ruth, Standen, G. R., Bowen, Derrick John, Cumming, A., Lush, Christy, Lee, R. and Bidwell, J. 1996. UHG-based mutation screening in type 2B von Willebrand's disease: detection of a candidate mutation Ser547Phe. Thrombosis and Haemostasis 75 (2) , pp. 363-367.

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Abstract

We have recently described a novel mutation screening technique for the diagnosis of type 2B von Willebrand's disease (vWD). Analysis involves the use of a synthetic universal heteroduplex generator (UHG). To test the validity of the technique, we have applied UHG screening to seven type 2B vWD patients of previously unknown genotype. Characteristic heteroduplex patterns for Arg543Trp and Val553Met mutations were found in three patients and one patient, respectively. A fifth patient gave a novel pattern and direct sequencing revealed a hitherto unreported candidate mutation (Ser547Phe) 8 bases downstream of an "identifier" deletion in the UHG molecule. The two remaining patients gave normal heteroduplex patterns; an Arg578Gln mutation was identified by PstI digestion in one individual and no mutation could be identified in the sequence covered by the UHG in the final patient. Using a combination of UHG technology and restriction analysis, over 85% of type 2B vWD patients can be rapidly diagnosed by genotype.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Additional Information: Comment in A new (K1518E) candidate mutation detected by universal heteroduplex generator analysis in a patient with type 2A (phenotype IIA) von Willebrand disease. [Thromb Haemost. 1998]
Publisher: Schattauer
ISSN: 0340-6245
Related URLs:
Last Modified: 04 Jun 2017 06:12
URI: http://orca.cf.ac.uk/id/eprint/57203

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