Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
1997-6-3
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0006-4971
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
89
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
3470-6
pubmed:dateRevised
2006-11-15
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
pubmed:year
1997
pubmed:articleTitle
A patient with paroxysmal nocturnal hemoglobinuria bearing four independent PIG-A mutant clones.
pubmed:affiliation
Department of Hematology and Oncology, Osaka University Medical School, Suita, Japan.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't