Molecular basis of human von Willebrand disease: Analysis of platelet von Willebrand factor mRNA

Journal Article · Mon May 01 00:00:00 EDT 1989 · Proceedings of the National Academy of Sciences of the United States of America; (USA)

DOI:https://doi.org/10.1073/pnas.86.10.3723· OSTI ID:5299707

Ginsburg, D; Konkle, B A; Gill, J C; Montgomery, R R; Bockenstedt, P L; Johnson, T A; Yang, A Y ^[1]

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1. Univ. of Michigan Medical School, Ann Arbor (USA)

von Willebrand disease (vWD), the most common inherited bleeding disorder in humans, can result from either a quantitative or a qualitative defect in the adhesive glycoprotein, von Willebrand factor (vWF). Molecular studies of vWD have been limited by the large size of the vWF gene and difficulty in obtaining the vWF mRNA from patients. By use of an adaptation of the polymerase chain reaction, vWF mRNA was amplified and sequenced from peripheral blood platelets. A silent vWF allele was identified, resulting from a cis defect in vWF mRNA transcription or processing. In two type IIA vWD patients, two different but adjacent missense mutations were identified, the locations of which may identify an important vWF functional domain. Expression in heterologous cells of recombinant vWF containing one of these latter mutations reproduced the characteristic structural abnormality seen in type IIA vWD plasma.

• OSTI ID: 5299707
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (USA), Vol. 86:10; ISSN 0027-8424
• Country of Publication: United States
• Language: English

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59 BASIC BIOLOGICAL SCIENCES
HEREDITARY DISEASES
MOLECULAR BIOLOGY
MESSENGER-RNA
DNA SEQUENCING
BLOOD COAGULATION FACTORS
BLOOD PLATELETS
CYSTEINE
DNA POLYMERASES
ELECTROPHORESIS
GLYCOPROTEINS
METHIONINE
OLIGONUCLEOTIDES
RNA POLYMERASES
SULFUR 35
TRANSCRIPTION
AMINO ACIDS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
BIOLOGICAL MATERIALS
BLOOD
BLOOD CELLS
BODY FLUIDS
CARBOXYLIC ACIDS
COAGULANTS
DAYS LIVING RADIOISOTOPES
DISEASES
DRUGS
ENZYMES
EVEN-ODD NUCLEI
HEMATOLOGIC AGENTS
ISOTOPES
LIGHT NUCLEI
LIPOTROPIC FACTORS
MATERIALS
NUCLEI
NUCLEIC ACIDS
NUCLEOTIDYLTRANSFERASES
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANIC SULFUR COMPOUNDS
PHOSPHORUS-GROUP TRANSFERASES
POLYMERASES
PROTEINS
RADIOISOTOPES
RNA
STRUCTURAL CHEMICAL ANALYSIS
SULFUR ISOTOPES
THIOLS
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550401* - Genetics- Tracer Techniques