Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin

Journal Article · Sun May 01 04:00:00 EDT 1994 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1994.1241· OSTI ID:6853613

Zhang, Z P; Blomback, M; Egberg, N; Falk, G; Anvret, M ^[1]

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1. Karolinska Hospital, Stockholm (Sweden)

Twenty-four patients with von Willebrand disease type III were screened for mutations in the von Willebrand factor (VWF) gene using the PCR technique, followed by direct sequencing. More than 250 kb of genomic DNA were sequenced, including the promoter and coding regions (52 exons) of the VWF gene from 24 patients. In addition to the previously reported mutations of a single cytosine deletion in exon 18 and the nonsense mutations in exons 28, 32, and 45, nine new mutations were detected: two nonsense mutations in exons 15 and 16, one allele with a thymidine insertion in exon 14, one allele with a cytosine insertion in exon 28, one 20-bp deletion in exon 15, one mutation in the donor splice site of exon 43, and three missense mutations in exons 28, 49, and 51. Forty-two mutant chromosomes were identified (42/48); 11 probands are homozygous for the mutations, and 8 are compound heterozygous. In addition, a new subfamily of the Alu sequence in the promoter region and 10 new polymorphisms were identified. 15 refs., 3 figs., 3 tabs.

• OSTI ID: 6853613
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 21:1; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BIOTECHNOLOGY
BLOOD COAGULATION FACTORS
CLONING
COAGULANTS
DETECTION
DNA HYBRIDIZATION
DNA SEQUENCING
DNA-CLONING
DRUGS
GENE AMPLIFICATION
GENE MUTATIONS
GENETIC ENGINEERING
HEMATOLOGIC AGENTS
HYBRIDIZATION
MUTATIONS
NUCLEIC ACID HYBRIDIZATION
ORGANIC COMPOUNDS
POLYMERASE CHAIN REACTION
PROTEINS
STRUCTURAL CHEMICAL ANALYSIS