title: Analysis of fas ligand gene mutation in patients with systemic lupus erythematosus.
abstract: OBJECTIVE
  To investigate the possible association of a Fas ligand (FasL) gene mutation(s) or polymorphism(s) with systemic lupus erythematosus (SLE).
  
  
  METHODS
  For amplification of the introns of the FasL gene, long polymerase chain reaction (PCR) using exon-based primers was utilized, followed by partial sequencing to construct exon-specific oligonucleotide primers for the analyses of FasL genomic DNA in SLE patients. Structural defects were studied by use of a composite analysis of reverse transcriptase-PCR/single-strand conformational polymorphism (SSCP) analysis of messenger RNA (mRNA) transcripts of the FasL gene in 35 SLE patients and PCR/SSCP analysis of FasL genomic DNA in 143 SLE patients.
  
  
  RESULTS
  The sizes of the introns were approximately 0.6 kb for intron 1, 4.3 kb for intron 2, and 1.3 kb for intron 3. By SSCP analysis, we did not identify any mutations or polymorphisms in the FasL mRNA transcripts or in any of the 4 exons or areas of the introns adjacent to the exons.
  
  
  CONCLUSIONS
  Using the same methods used in the present studies (PCR/SSCP), one group of investigators identified a structural defect of the FasL molecule in 1 of 75 SLE patients evaluated. Among the 143 SLE patients in the present study, however, we did not identify any mutations or polymorphisms of the FasL gene. Our results suggest that a FasL defect is not the major contributing factor in the pathogenesis of SLE.
authors.affiliation: Kyushu University, Fukuoka, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Kojima
authors.forename: T
authors.initials: T
authors.lastname: Horiuchi
authors.forename: H
authors.initials: H
authors.lastname: Nishizaka
authors.forename: T
authors.initials: T
authors.lastname: Sawabe
authors.forename: M
authors.initials: M
authors.lastname: Higuchi
authors.forename: S I
authors.initials: SI
authors.lastname: Harashima
authors.forename: S
authors.initials: S
authors.lastname: Yoshizawa
authors.forename: H
authors.initials: H
authors.lastname: Tsukamoto
authors.forename: K
authors.initials: K
authors.lastname: Nagasawa
authors.forename: Y
authors.initials: Y
authors.lastname: Niho
mesh_terms: D004252:DNA Mutational Analysis; D017931:DNA Primers; D005091:Exons; D053222:Fas Ligand Protein; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007438:Introns; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012333:RNA, Messenger / Q000032:analysis
chemical_list: D017931:DNA Primers; C505661:FASLG protein, human; D053222:Fas Ligand Protein; D008562:Membrane Glycoproteins; D012333:RNA, Messenger