Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
8
|
| pubmed:dateCreated |
1992-11-18
|
| pubmed:abstractText |
In the A alpha-chain gene coding for an abnormal fibrinogen (fibrinogen Marburg) we identified a single base substitution (A-->T) that changes the codon A alpha 461 AAA (Lys) to TAA (Stop). The propositus was found to be homozygous for the mutation, whereas the father and five siblings were heterozygous, and three other siblings contained only the normal sequence. The stop codon at position 461 results in the deletion of the carboxyl-terminal segment A alpha 461-610. Purified fibrinogen Marburg contained an A alpha-chain with a relative molecular weight of approximately 47,000. The FpA release by thrombin was not affected by this deletion, whereas the fibrin polymerization was strongly decreased. The binding of endothelial cells to immobilized fibrinogen Marburg was almost completely abolished compared with normal fibrinogen. Fibrinogen Marburg contained a substantial amount of albumin linked to the fibrinogen molecule by disulfide bonds, and these fibrinogen-albumin complexes were also present in plasma. The plasma fibrinogen concentration of the propositus was measured by three different methods: a functional method (< 0.25 mg/mL), an immunologic method using polyclonal antibodies (0.6 mg/mL), and an immunologic method based on two monoclonal antibodies specific for the amino-terminus and carboxyl-terminus of the A alpha-chain (< 0.05 mg/mL). Using the two immunologic methods, it appeared that only 10% to 15% of the plasma fibrinogen of the heterozygous siblings was abnormal.
|
| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Codon,
http://linkedlifedata.com/resource/pubmed/chemical/DNA,
http://linkedlifedata.com/resource/pubmed/chemical/Disulfides,
http://linkedlifedata.com/resource/pubmed/chemical/Fibrin,
http://linkedlifedata.com/resource/pubmed/chemical/Fibrinogens, Abnormal,
http://linkedlifedata.com/resource/pubmed/chemical/Fibrinopeptide A,
http://linkedlifedata.com/resource/pubmed/chemical/Serum Albumin,
http://linkedlifedata.com/resource/pubmed/chemical/Sulfhydryl Compounds,
http://linkedlifedata.com/resource/pubmed/chemical/Thrombin
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Oct
|
| pubmed:issn |
0006-4971
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
15
|
| pubmed:volume |
80
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1972-9
|
| pubmed:dateRevised |
2007-11-14
|
| pubmed:meshHeading |
pubmed-meshheading:1391954-Adult,
pubmed-meshheading:1391954-Afibrinogenemia,
pubmed-meshheading:1391954-Amino Acid Sequence,
pubmed-meshheading:1391954-Base Sequence,
pubmed-meshheading:1391954-Codon,
pubmed-meshheading:1391954-DNA,
pubmed-meshheading:1391954-Disulfides,
pubmed-meshheading:1391954-Endothelium, Vascular,
pubmed-meshheading:1391954-Female,
pubmed-meshheading:1391954-Fibrin,
pubmed-meshheading:1391954-Fibrinogens, Abnormal,
pubmed-meshheading:1391954-Fibrinopeptide A,
pubmed-meshheading:1391954-Homozygote,
pubmed-meshheading:1391954-Humans,
pubmed-meshheading:1391954-Molecular Sequence Data,
pubmed-meshheading:1391954-Molecular Weight,
pubmed-meshheading:1391954-Mutation,
pubmed-meshheading:1391954-Pedigree,
pubmed-meshheading:1391954-Serum Albumin,
pubmed-meshheading:1391954-Sulfhydryl Compounds,
pubmed-meshheading:1391954-Thrombin
|
| pubmed:year |
1992
|
| pubmed:articleTitle |
Fibrinogen Marburg: a homozygous case of dysfibrinogenemia, lacking amino acids A alpha 461-610 (Lys 461 AAA-->stop TAA).
|
| pubmed:affiliation |
Gaubius Laboratory IVVO-TNO, Leiden, The Netherlands.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
|