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

Zhang, Z P; Blombaeck, M; Anvret, M

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

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Abstract

Twenty-four patients with vWD type III were screened for mutations in the vWF gene using the PCR technique followed by direct sequencing. More than 250 kilobases (kb) of genomic DNA were sequenced, including the promoter and coding region (52 exons) of the vWF gene from 24 patients. Altogether 14 mutations were detected: a thymidine insertion in exon 14, a 20 bp deletion in exon 15, a single cytosine deletion in exon 18, a cytosine insertion in exon 28, the nonsense mutations in exons 15, 16, 28, 32 and 45, a mutation in donor splice site of exon 43 and four candidate mutations in exons 5, 18, 28, 49 and 51. Forty-two mutant alleles 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. Our studies indicate that most of the vWD type III patients have homozygous or compound heterozygous mutations in the vWF gene. The vWD type I patients do in some cases have two different mutant alleles of the vWF gene. The two mutant vWF proteins may compensate each other so that the synthesis ofmore »« less

Authors:

Zhang, Z P; Blombaeck, M; Anvret, M ^[1]

Karolinska Hospital, Stockholm (Sweden)

Publication Date:: Thu Sep 01 00:00:00 EDT 1994

OSTI Identifier:: 134370

Report Number(s):: CONF-941009-
Journal ID: AJHGAG; ISSN 0002-9297; TRN: 95:005313-1103

Resource Type:: Journal Article

Journal Name:: American Journal of Human Genetics

Additional Journal Information:: Journal Volume: 55; Journal Issue: Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994

Country of Publication:: United States

Language:: English

Subject:: 55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; HEREDITARY DISEASES; SCREENING; GENES; GENE MUTATIONS; DNA SEQUENCING; SPLICING; SCANDINAVIA; PROTEINS; POLYMERASE CHAIN REACTION; EXONS

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                    Zhang, Z P, Blombaeck, M, and Anvret, M. Characterization of the von Willebrand factor (vWD) gene in von Willebrand disease (vWD) type III patients from 24 families of Swedish and Finnish origin.  United States: N. p., 1994. 
        Web.

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                    Zhang, Z P, Blombaeck, M, & Anvret, M. Characterization of the von Willebrand factor (vWD) gene in von Willebrand disease (vWD) type III patients from 24 families of Swedish and Finnish origin.  United States.

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                    Zhang, Z P, Blombaeck, M, and Anvret, M. 1994.  
        "Characterization of the von Willebrand factor (vWD) gene in von Willebrand disease (vWD) type III patients from 24 families of Swedish and Finnish origin".  United States.

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@article{osti_134370,

  title        = {Characterization of the von Willebrand factor (vWD) gene in von Willebrand disease (vWD) type III patients from 24 families of Swedish and Finnish origin},

  author       = {Zhang, Z P and Blombaeck, M and Anvret, M},

  abstractNote = {Twenty-four patients with vWD type III were screened for mutations in the vWF gene using the PCR technique followed by direct sequencing. More than 250 kilobases (kb) of genomic DNA were sequenced, including the promoter and coding region (52 exons) of the vWF gene from 24 patients. Altogether 14 mutations were detected: a thymidine insertion in exon 14, a 20 bp deletion in exon 15, a single cytosine deletion in exon 18, a cytosine insertion in exon 28, the nonsense mutations in exons 15, 16, 28, 32 and 45, a mutation in donor splice site of exon 43 and four candidate mutations in exons 5, 18, 28, 49 and 51. Forty-two mutant alleles 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. Our studies indicate that most of the vWD type III patients have homozygous or compound heterozygous mutations in the vWF gene. The vWD type I patients do in some cases have two different mutant alleles of the vWF gene. The two mutant vWF proteins may compensate each other so that the synthesis of the vWF protein will be not seriously disrupted.},

  doi          = {},

  url          = {https://www.osti.gov/biblio/134370},
  journal      = {American Journal of Human Genetics},
number       = Suppl.3,

  volume       = 55,

  place        = {United States},

  year         = {Thu Sep 01 00:00:00 EDT 1994},

  month        = {Thu Sep 01 00:00:00 EDT 1994}

}

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

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