title: T cell receptor gene rearrangement and expression in ataxia-telangiectasia B lymphoblastoid cells.
abstract: Immunoglobulin and T cell receptor gene probes have been used to investigate cell lineage and monoclonality in lymphoid malignancies. In the present study we have used T cell receptor beta- and gamma-chain gene probes to screen for abnormal rearrangements of these genes in B lymphoblastoid cells from patients with ataxia-telangiectasia (A-T). No rearrangement of either gene was observed but deletion of a beta-chain gene allele is described for one A-T cell line. Expression of mRNA hybridizing to the beta-chain gene probe was demonstrated for two A-T homozygotes (brother and sister) as well as for their mother (heterozygote). This transcript was found to be truncated in all three cases.
authors.affiliation: Department of Biochemistry, University of Queensland, Brisbane, Australia.
authors.forename: G D
authors.initials: GD
authors.lastname: Baxter
authors.forename: S
authors.initials: S
authors.lastname: Kumar
authors.forename: M F
authors.initials: MF
authors.lastname: Lavin
mesh_terms: D001260:Ataxia Telangiectasia / Q000235:genetics* / Q000276:immunology; D001402:B-Lymphocytes / Q000276:immunology; D002460:Cell Line; D002872:Chromosome Deletion; D015342:DNA Probes; D005786:Gene Expression Regulation; D015329:Gene Rearrangement, T-Lymphocyte; D015333:Gene Rearrangement, beta-Chain T-Cell Antigen Receptor; D015334:Gene Rearrangement, gamma-Chain T-Cell Antigen Receptor; D006801:Humans; D012333:RNA, Messenger / Q000235:genetics
chemical_list: D015342:DNA Probes; D012333:RNA, Messenger