title: Analysis of immunoglobulin VH and TCR cbeta polymorphisms in a large family with thyroid autoimmune disorder.
abstract: In order to investigate the association of TCR Cbeta and immunoglobulin (Ig) VH polymorphisms with thyroid autoimmune diseases (TAD), we analyzed restriction-endonuclease-generated polymorphisms using T-cell receptor (TCR) Cbeta and VH gene-family-specific probes. We tested genomic DNAs of patients isolated from a large family affected with Graves' disease and Hashimoto's thyroiditis as well as the genomic DNA of unrelated Tunisian controls. Hybridization of BglII-digested DNA with a TCR Cbeta probe revealed two alleles of 9.2 and 10 kb. These Cbeta polymorphisms have already been found in the Caucasian population. However, there was no abnormal distribution of this polymorphism in patients with TAD, compared to related healthy individuals and to unrelated Tunisian controls. Besides, there was a low VH polymorphism in members of the family affected with TAD. Analysis of the Ig gene families revealed no restriction site polymorphism pattern specific for TAD.
authors.affiliation: Laboratoire d'Immunologie et de Biologie Moléculaire, Faculté de Médecine, Sfax, Tunisia.
authors.forename: F
authors.initials: F
authors.lastname: Fakhfakh
authors.forename: A
authors.initials: A
authors.lastname: Maalej
authors.forename: H
authors.initials: H
authors.lastname: Makni
authors.forename: M
authors.initials: M
authors.lastname: Abid
authors.forename: J
authors.initials: J
authors.lastname: Jouida
authors.forename: M
authors.initials: M
authors.lastname: Zouali
authors.forename: H
authors.initials: H
authors.lastname: Ayadi
mesh_terms: D015139:Blotting, Southern; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D019674:Genes, T-Cell Receptor beta; D006111:Graves Disease / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D006824:Hybridization, Genetic; D007135:Immunoglobulin Variable Region / Q000235:genetics* / Q000378:metabolism; D012150:Polymorphism, Restriction Fragment Length; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013967:Thyroiditis, Autoimmune / Q000235:genetics* / Q000378:metabolism
chemical_list: D015342:DNA Probes; D007135:Immunoglobulin Variable Region; D004247:DNA