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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5
|
| pubmed:dateCreated |
1995-12-6
|
| pubmed:abstractText |
We analyzed the molecular genetic defect responsible for type I Glanzmann's thrombasthenia in a Japanese patient. In an immunoblot assay using polyclonal anti-GpIIb-IIIa antibodies, some GPIIIa (15% of normal amount) could be detected in the patient's platelets, whereas GPIIb could not (< 2% of normal amount). Nucleotide sequence analysis of platelet GPIIb mRNA-derived polymerase chain reaction (PCR) products revealed that patient's GPIIb cDNA had a 75-bp deletion in the 3' boundary of exon 17 resulting in an in-frame deletion of 25 amino acids. DNA analysis and family study revealed that the patient was a compound heterozygote of two GPIIb gene defects. One allele derived from her father was not expressed in platelets, and the other allele derived from her mother had a 9644C--> T mutation which was located at the position -3 of the splice donor junction of exon 17 and resulted in a termination codon (TGA). Moreover, quantitative analysis demonstrated that the amount of the abnormal GPIIb transcript in the patient's platelets was markedly reduced. Thus, the C --> T mutation resulting in the abnormal splicing of GPIIb transcript and the reduction in its amount is responsible for Glanzmann's thrombasthenia.
|
| pubmed:commentsCorrections | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Deoxyribonucleases, Type II...,
http://linkedlifedata.com/resource/pubmed/chemical/Platelet Glycoprotein GPIIb-IIIa...,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Messenger,
http://linkedlifedata.com/resource/pubmed/chemical/TCGA-specific type II...
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
May
|
| pubmed:issn |
0340-6245
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
73
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
756-62
|
| pubmed:dateRevised |
2008-8-29
|
| pubmed:meshHeading |
pubmed-meshheading:7482399-Adult,
pubmed-meshheading:7482399-Amino Acid Sequence,
pubmed-meshheading:7482399-Base Sequence,
pubmed-meshheading:7482399-Deoxyribonucleases, Type II Site-Specific,
pubmed-meshheading:7482399-Exons,
pubmed-meshheading:7482399-Female,
pubmed-meshheading:7482399-Genes,
pubmed-meshheading:7482399-Heterozygote,
pubmed-meshheading:7482399-Humans,
pubmed-meshheading:7482399-Japan,
pubmed-meshheading:7482399-Molecular Sequence Data,
pubmed-meshheading:7482399-Platelet Glycoprotein GPIIb-IIIa Complex,
pubmed-meshheading:7482399-Polymerase Chain Reaction,
pubmed-meshheading:7482399-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:7482399-RNA, Messenger,
pubmed-meshheading:7482399-RNA Processing, Post-Transcriptional,
pubmed-meshheading:7482399-Sequence Deletion,
pubmed-meshheading:7482399-Thrombasthenia
|
| pubmed:year |
1995
|
| pubmed:articleTitle |
Abnormal processing of the glycoprotein IIb transcript due to a nonsense mutation in exon 17 associated with Glanzmann's thrombasthenia.
|
| pubmed:affiliation |
Second Department of Internal Medicine, Osaka University Medical School, Japan.
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|