Skip to main content
OSTI.GOVU.S. Department of Energy Office of Scientific and Technical Information
U.S. Department of Energy
Office of Scientific and Technical Information
 

Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of sever von Willebrand disease

Journal Article · · Proc. Natl. Acad. Sci. U.S.A.; (United States)
; ; ; ; ; ; ; ;
Severe von Willebrand disease is characterized by undetectable or trace quantities of von Willebrand factor in plasma and tissue stores. The authors have studied the genomic DNA of 10 affected individuals from six families with this disorder using probes from the 5' and 3' ends of the vWF cDNA and with a probe extending from the 5' end into the central region. Southern blots of restriction endonuclease digest and gene dosage analysis measurements carried out with quantitative slot blots of undigested genomic DNA separated these patients into three groups. The first group consisted of a family with complete homozygous deletions of the vWF gene in the four probands. The second group was comprised of a family in which there was a complete heterozygous deletion of the vWF gene in the proband and one asymptomatic parent, suggesting that a different type of genetic abnormality was inherited from the other parent. Thus, the patient appeared to be doubly heterozygous for interacting genetic abnormalities affecting vWF expression. In the third group, no gene deletions could be detected. Alloantibodies developed only in the kindred with homozygous deletions. These techniques should prove useful in identifying carriers of severe von Willebrand disease and also in defining patients predictably at risk of developing alloantibodes to vWF.
Research Organization:
Scripps Clinic and Research Foundation, La Jolla, CA (USA)
OSTI ID:
6243975
Journal Information:
Proc. Natl. Acad. Sci. U.S.A.; (United States), Journal Name: Proc. Natl. Acad. Sci. U.S.A.; (United States) Vol. 85:8; ISSN PNASA
Country of Publication:
United States
Language:
English

Similar Records

Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I
Journal Article · Thu Oct 01 00:00:00 EDT 1992 · American Journal of Human Genetics; (United States) · OSTI ID:5105383
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 00:00:00 EDT 1994 · Genomics; (United States) · OSTI ID:6853613
Severe von Willebrand disease due to a defect at the level of von Willebrand factor mRNA expression: Detection by exonic PCR-restriction fragment length polymorphism analysis
Journal Article · Wed May 01 00:00:00 EDT 1991 · Proceedings of the National Academy of Sciences of the United States of America; (United States) · OSTI ID:6056027

Related Subjects

550401* -- Genetics-- Tracer Techniques
59 BASIC BIOLOGICAL SCIENCES
ANTIBODIES
BIOLOGICAL MATERIALS
BLOOD
BLOOD CELLS
BLOOD COAGULATION FACTORS
BLOOD PLATELETS
BODY FLUIDS
CARBOHYDRATES
CHROMOSOMAL ABERRATIONS
COAGULANTS
DIAGNOSIS
DISEASES
DNA
DNA SEQUENCING
DNA-ASE
DRUGS
ENDONUCLEASES
ENZYMES
ESTERASES
GENES
GLUCOPROTEINS
GLYCOPROTEINS
HEMATOLOGIC AGENTS
HEMATOLOGY
HEREDITARY DISEASES
HUMAN POPULATIONS
HYBRIDIZATION
HYDROLASES
MATERIALS
MEDICINE
MUTATIONS
NUCLEIC ACIDS
ORGANIC COMPOUNDS
PATHOGENESIS
PATIENTS
PHOSPHODIESTERASES
POPULATIONS
PROTEINS
RECOMBINANT DNA
SACCHARIDES
STRUCTURAL CHEMICAL ANALYSIS