Analysis of CD40 ligand gene mutations in patients with primary biliary cirrhosis.
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.
Higuchi
M
M
First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Horiuchi
T
T
Kojima
T
T
Nishizaka
H
H
Ishibashi
H
H
Hayashi
K
K
Niho
Y
Y
Nagasawa
K
K
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
D017931:DNA Primers; D018076:DNA, Complementary; D008562:Membrane Glycoproteins; D012333:RNA, Messenger; D023201:CD40 Ligand