Variations in the human phospholipase Cgamma2 gene in patients with B-cell defects of unknown etiology. Immunogenetics 2001 Sep;53(7):550-6
Date
10/31/2001Pubmed ID
11685467DOI
10.1007/s002510100356Scopus ID
2-s2.0-0034764039 6 CitationsAbstract
Our recent studies using targeted gene disruption have shown that defects in phospholipase Cgamma2 (PLCgamma2) result in a B-cell abnormality that is very similar to that seen in Btk-deficient mice. Null mutations in either PLCG2 or BTK are associated with decreased numbers of mature B cells, failure to make antibodies to some T cell-independent antigens and the absence of CD5+ peritoneal B cells. Mutations in BTK in humans cause a more severe defect in B-cell development characterized by almost complete absence of B cells in the peripheral circulation, profound hypogammaglobulinemia and an inability to produce antibodies to any antigens. However, not all patients with severe defects in B-cell development have mutations in BTK or the components of the B-cell signal transduction complex. To explore the possibility that some patients with defects in B-cell development of unknown etiology might have mutations in PLCG2, we determined the genomic structure of this gene and established conditions to analyze the 32 exons of the gene and the flanking sequences by single-strand conformation polymorphism. Although 24 polymorphic variants of this gene were found in 35 patients, we did not identify any alterations that were likely to be the cause of disease.
Author List
Wang D, Boylin EC, Minegishi Y, Wen R, Smith CI, Ihle JN, Conley MEAuthor
Demin Wang PhD Assistant Professor in the Microbiology and Immunology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AgammaglobulinemiaAmino Acid Sequence
B-Lymphocytes
Base Sequence
Exons
Female
Genetic Variation
Genome, Human
Humans
Immunologic Deficiency Syndromes
Introns
Isoenzymes
Male
Molecular Sequence Data
Phospholipase C gamma
Polymorphism, Single-Stranded Conformational
Sequence Homology, Amino Acid
Sequence Homology, Nucleic Acid
Type C Phospholipases
