Analysis of CD40 ligand gene mutations in patients with primary biliary cirrhosis

M. Higuchi, T. Horiuchi, T. Kojima, H. Nishizaka, H. Ishibashi, K. Hayashi, Y. Niho, K. Nagasawa

Research output: Contribution to journalArticle

16 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)429-432
Number of pages4
JournalScandinavian Journal of Clinical and Laboratory Investigation
Volume58
Issue number5
DOIs
Publication statusPublished - Nov 7 1998

Fingerprint

CD40 Ligand
Biliary Liver Cirrhosis
Immunoglobulin M
Genes
Mutation
Transcription
Polymorphism
Conformations
Reverse Transcription
Type 1 Hyper-IgM Immunodeficiency Syndrome
Gene encoding
Immunoglobulin Isotypes
Immunoglobulin Class Switching
Polymerase Chain Reaction
Complementary DNA
Cells
B-Lymphocytes
Serum

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry

Cite this

Analysis of CD40 ligand gene mutations in patients with primary biliary cirrhosis. / Higuchi, M.; Horiuchi, T.; Kojima, T.; Nishizaka, H.; Ishibashi, H.; Hayashi, K.; Niho, Y.; Nagasawa, K.

In: Scandinavian Journal of Clinical and Laboratory Investigation, Vol. 58, No. 5, 07.11.1998, p. 429-432.

Research output: Contribution to journalArticle

Higuchi, M. ; Horiuchi, T. ; Kojima, T. ; Nishizaka, H. ; Ishibashi, H. ; Hayashi, K. ; Niho, Y. ; Nagasawa, K. / Analysis of CD40 ligand gene mutations in patients with primary biliary cirrhosis. In: Scandinavian Journal of Clinical and Laboratory Investigation. 1998 ; Vol. 58, No. 5. pp. 429-432.
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