| A correlation between thrombotic disease and a specific fibrinogen abnormality (A alpha 554 Arg-->Cys) in two unrelated kindred, Dusart and Chapel Hill III. | |
| | |
MedLine Citation:
|
PMID: 7949126 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
For the first time, a correlation between a specific fibrinogen abnormality and the clinical symptoms of thrombosis has been found in unrelated families. These abnormal fibrinogens have been designated Dusart and Chapel Hill III. The abnormal fibrinogen Chapel Hill III was identified previously in a patient with thrombotic disease. We purified fibrinogen from small aliquots of patient and normal plasmas by a simple, rapid procedure. Coomassie stained sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) analysis demonstrated that fibrinogen Chapel Hill III contained several high molecular weight forms in addition to the two forms seen with normal fibrinogen. Immunoblot analysis of Chapel Hill III fibrinogen demonstrated that essentially all the high molecular weight forms react with antiserum to albumin. Immunoblot analysis of plasmin digests of Chapel Hill III fibrinogen demonstrated that albumin is linked to the C-terminus of the A alpha chain. Using DNA analysis, we found that the patient is heterozygous for a single base change, resulting in the substitution A alpha Arg 554-->Cys. This is the same change identified in fibrinogen Dusart. The Dusart family members who are heterozygous for this substitution also suffer from recurrent thrombotic disorders. |
| | |
Authors:
|
Y Wada; S T Lord |
Related Documents
:
|
19550316 - Anticoagulants to prevent placenta-mediated pregnancy complications: a review of curren... 20847186 - Identification of copy number variants in miscarriages from couples with idiopathic rec... 8593546 - Pregnancy-associated osteoporosis. 19912516 - Low molecular weight heparin to achieve live birth following unexplained pregnancy loss... 2530116 - Effect of treatment with gonadotropin-releasing hormone analogues on pregnancy outcome ... 6522346 - Trisomy 20 mosaicism. |
Publication Detail:
|
Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
|
Title: Blood Volume: 84 ISSN: 0006-4971 ISO Abbreviation: Blood Publication Date: 1994 Dec |
Date Detail:
|
Created Date: 1994-12-29 Completed Date: 1994-12-29 Revised Date: 2007-11-14 |
Medline Journal Info:
|
Nlm Unique ID: 7603509 Medline TA: Blood Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 3709-14 Citation Subset: AIM; IM |
Affiliation:
|
Department of Pathology, Center for Thrombosis and Hemostasis, University of North Carolina at Chapel Hill, Chapel Hill 27599. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Afibrinogenemia
/
blood,
complications,
genetics* Base Sequence Child DNA Mutational Analysis Fibrinogens, Abnormal / genetics*, isolation & purification Genetic Predisposition to Disease Heterozygote Humans Male Molecular Sequence Data Polymerase Chain Reaction Pulmonary Embolism / etiology Recurrence Thromboembolism / etiology* |
| Grant Support | |
ID/Acronym/Agency:
|
HL-31048/HL/NHLBI NIH HHS; HL-45100/HL/NHLBI NIH HHS |
| Chemical | |
Reg. No./Substance:
|
0/Fibrinogens, Abnormal; 0/fibrinogen Dusard |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Effect of thrombin, the thrombin receptor activation peptide, and other mitogens on vascular smooth ...
Next Document: Phosphorylated HSP27 associates with the activation-dependent cytoskeleton in human platelets.