title: Analysis of CD40 ligand gene mutations in patients with primary biliary cirrhosis.
abstract: An elevated immunoglobulin (Ig)M concentration in serum is a common and distinctive feature of primary biliary cirrhosis (PBC). Little is known, however, about the mechanism of hyper-IgM in PBC. CD40 ligand (CD40L) has a crucial role in immunoglobulin class switching in B cells. Mutations in the gene encoding CD40L are known to induce X-linked hyper-IgM syndrome. To identify mutations in the gene for CD40L in PBC patients, we analyzed CD40L gene mutations, using reverse transcription (RT)-PCR single-strand conformation polymorphism (SSCP) analysis. No mutations were detected in cDNA from any of 24 PBC patients by the RT-PCR-SSCP technique. These data suggest that other, unidentified mechanisms are involved in hyper-IgM in PBC patients.
authors.affiliation: First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Higuchi
authors.forename: T
authors.initials: T
authors.lastname: Horiuchi
authors.forename: T
authors.initials: T
authors.lastname: Kojima
authors.forename: H
authors.initials: H
authors.lastname: Nishizaka
authors.forename: H
authors.initials: H
authors.lastname: Ishibashi
authors.forename: K
authors.initials: K
authors.lastname: Hayashi
authors.forename: Y
authors.initials: Y
authors.lastname: Niho
authors.forename: K
authors.initials: K
authors.lastname: Nagasawa
mesh_terms: D000368:Aged; D001483:Base Sequence; D023201:CD40 Ligand; D017931:DNA Primers; D018076:DNA, Complementary; D006801:Humans; D008105:Liver Cirrhosis, Biliary / Q000235:genetics*; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; D008562:Membrane Glycoproteins; D012333:RNA, Messenger; D023201:CD40 Ligand