title: A mutation of the glucocorticoid receptor gene in patients with systemic lupus erythematosus.
abstract: We screened for mutations of the glucocorticoid receptor (GR) gene in patients with systemic lupus erythematosus (SLE), a typical autoimmune disease. Polymerase chain reaction-single-strand conformation polymorphism analysis (PCR-SSCP) revealed a single mutation in exon 9 of the GR gene in 11/132 (8.3%) among 66 patients with SLE. No mutations were detected in 52 healthy individuals (0/104, 0.0%), but the same mutation was detected in other autoimmne diseases (4/108, 3.7%). DNA sequencing showed a T to C substitution at codon 766 (position 2430) of the GR gene, which does not alter the amino acid sequence of the GR. Further analysis using a LightCycler generated different melting curves indicates that the pattern with this mutation is different from that of wild type. The identified mutation of the GR gene may represent a polymorphism associated with SLE.
authors.affiliation: Department of Orthopedics, Tohoku University, School of Medicine, Sendai 980-8574, Japan.
authors.forename: Young Moo
authors.initials: YM
authors.lastname: Lee
authors.forename: Junko
authors.initials: J
authors.lastname: Fujiwara
authors.forename: Yasuhiko
authors.initials: Y
authors.lastname: Munakata
authors.forename: Tomonori
authors.initials: T
authors.lastname: Ishii
authors.forename: Akira
authors.initials: A
authors.lastname: Sugawara
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Kaku
authors.forename: Shoichi
authors.initials: S
authors.lastname: Kokubun
authors.forename: Takeshi
authors.initials: T
authors.lastname: Sasaki
authors.forename: Tadao
authors.initials: T
authors.lastname: Funato
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D001483:Base Sequence; D003062:Codon; D017931:DNA Primers / Q000494:pharmacology; D005091:Exons; D005787:Gene Frequency; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008875:Middle Aged; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011965:Receptors, Glucocorticoid / Q000235:genetics*; D013696:Temperature
chemical_list: D003062:Codon; D017931:DNA Primers; D011965:Receptors, Glucocorticoid