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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
9
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pubmed:dateCreated |
1997-6-3
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pubmed:abstractText |
Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by clonal blood cells that are deficient in the surface expression of glycosylphosphatidylinositol-anchored proteins due to somatic mutation in the X-linked gene PIG-A. In some patients, more than one abnormal clone may be present. Analysis of bulk DNA/RNA from granulocytes has been useful in identifying the predominant PIG-A mutation in each patient. However, it is often not useful in determining the presence of minor clones. Many patients have cells with partial deficiency. Here, we analyzed the PIG-A gene in two B-cell lines bearing complete or partial deficiencies, cells of hematopoietic progenitor colonies and peripheral blood granulocytes from the same patient. We found that two B-cell lines had different mutations, the granulocytes contained at least two mutants, and the hematopoietic progenitors contained four mutants. Three of the four were shared by B cells and/or granulocytes whereas the other one was found only in the hematopoietic progenitors. The partial deficiency was caused by a point mutation near an alternative splice site within exon 2 that resulted in partial decreases of activity and quantity of the full-length transcript. These results further show the oligoclonal nature of PNH and differences in extent of expansion among mutant clones.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
AIM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/DNA Primers,
http://linkedlifedata.com/resource/pubmed/chemical/Glycosylphosphatidylinositols,
http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Recombinant Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/phosphatidylinositol glycan-class...
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0006-4971
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
1
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pubmed:volume |
89
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
3470-6
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:9129055-Alternative Splicing,
pubmed-meshheading:9129055-B-Lymphocytes,
pubmed-meshheading:9129055-Base Sequence,
pubmed-meshheading:9129055-Cell Line,
pubmed-meshheading:9129055-Cells, Cultured,
pubmed-meshheading:9129055-Cloning, Molecular,
pubmed-meshheading:9129055-DNA Primers,
pubmed-meshheading:9129055-Frameshift Mutation,
pubmed-meshheading:9129055-Glycosylphosphatidylinositols,
pubmed-meshheading:9129055-Granulocytes,
pubmed-meshheading:9129055-Hematopoietic Stem Cells,
pubmed-meshheading:9129055-Hemoglobinuria, Paroxysmal,
pubmed-meshheading:9129055-Humans,
pubmed-meshheading:9129055-Male,
pubmed-meshheading:9129055-Membrane Proteins,
pubmed-meshheading:9129055-Molecular Sequence Data,
pubmed-meshheading:9129055-Mutation,
pubmed-meshheading:9129055-Point Mutation,
pubmed-meshheading:9129055-Polymerase Chain Reaction,
pubmed-meshheading:9129055-Recombinant Proteins,
pubmed-meshheading:9129055-Sequence Deletion,
pubmed-meshheading:9129055-X Chromosome
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pubmed:year |
1997
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pubmed:articleTitle |
A patient with paroxysmal nocturnal hemoglobinuria bearing four independent PIG-A mutant clones.
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pubmed:affiliation |
Department of Hematology and Oncology, Osaka University Medical School, Suita, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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