Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
8
|
| pubmed:dateCreated |
1993-5-19
|
| pubmed:abstractText |
Glanzmann's thrombasthenia (GT) is the result of the absence or of an altered and dysfunctional expression on the platelet membrane of the fibrinogen receptor (glycoprotein [GP] IIb/IIIa complex). Various molecular genetic mechanisms have been found to be responsible for this inherited disease. In a patient with a severe type of GT, we have found a splice variant in the GP IIIa gene that leads to premature chain termination. Immunoprecipitation experiments, using monoclonal antibodies specific for GP IIb/IIIa, showed that GP IIb/IIIa was not detectable on the platelet membrane. Amplification of reversely transcribed platelet GP IIIa mRNA by the polymerase chain reaction and subsequent sequence analysis showed a 86-bp deletion, which corresponds to exon i of the GP IIIa gene. This deletion results in a shift of the reading frame leading to eight altered amino acids followed by a premature termination codon. Analysis of the corresponding genomic DNA fragments showed three mutations in the exon i-intron i boundary region of the GP IIIa gene. One of these mutations is a G-->T transition that eliminates the GT splice donor site in the wild type. This base pair change creates a restriction site for the enzyme Mse I. Allele-specific restriction enzyme analysis (ASRA) with Mse I of amplified genomic DNA of the parents and the proposita showed that both parents (who are first cousins) are heterozygous, whereas the proposita is homozygous for the G-->T substitution.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Antibodies, Monoclonal,
http://linkedlifedata.com/resource/pubmed/chemical/DNA,
http://linkedlifedata.com/resource/pubmed/chemical/Deoxyribonucleases, Type II...,
http://linkedlifedata.com/resource/pubmed/chemical/Platelet Membrane Glycoproteins,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Messenger,
http://linkedlifedata.com/resource/pubmed/chemical/endodeoxyribonuclease MseI
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
0006-4971
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
15
|
| pubmed:volume |
81
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
2044-9
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:8471765-Adult,
pubmed-meshheading:8471765-Amino Acid Sequence,
pubmed-meshheading:8471765-Antibodies, Monoclonal,
pubmed-meshheading:8471765-Base Sequence,
pubmed-meshheading:8471765-Blood Platelets,
pubmed-meshheading:8471765-DNA,
pubmed-meshheading:8471765-Deoxyribonucleases, Type II Site-Specific,
pubmed-meshheading:8471765-Exons,
pubmed-meshheading:8471765-Female,
pubmed-meshheading:8471765-Gene Deletion,
pubmed-meshheading:8471765-Homozygote,
pubmed-meshheading:8471765-Humans,
pubmed-meshheading:8471765-Immunosorbent Techniques,
pubmed-meshheading:8471765-Molecular Sequence Data,
pubmed-meshheading:8471765-Platelet Membrane Glycoproteins,
pubmed-meshheading:8471765-Polymerase Chain Reaction,
pubmed-meshheading:8471765-RNA, Messenger,
pubmed-meshheading:8471765-RNA Splicing,
pubmed-meshheading:8471765-Thrombasthenia
|
| pubmed:year |
1993
|
| pubmed:articleTitle |
Glanzmann's thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein IIIa mRNA.
|
| pubmed:affiliation |
Department of Immunological Haematology, Central Laboratory of the Netherlands, Red Cross Blood Transfusion Service, Amsterdam.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|