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Diagnostic role of tests for T cell receptor (TCR) genes


Rapid advances in molecular biological techniques have made it possible to study disease pathogenesis at a genomic level. T cell receptor (TCR) gene rearrangement is an important event in T cell ontogeny that enables T cells to recognise antigens specifically, and any dysregulation in this complex yet highly regulated process may result in disease. Using techniques such as Southern blot hybridisation, polymerase chain reaction, and flow cytometry it has been possible to characterise T cell proliferations in malignancy and in diseases where T cells have been implicated in the pathogenesis. The main aim of this article is to discuss briefly the process of TCR gene rearrangement and highlight the disorders in which expansions or clonal proliferations of T cells have been recognised. It will also describe various methods that are currently used to study T cell populations in body fluids and tissue, their diagnostic role, and current limitations of the methodology.

  • T cells
  • T cell receptor gene rearrangement
  • clonality
  • polymerase chain reaction
  • flow cytometry
  • T cell receptor repertoire
  • B-ALL, B cell acute lymphoblastic leukaemia
  • C, constant
  • CDR, complementarity determining regions
  • CMV, cytomegalovirus
  • CVID, common variable immunodeficiency
  • D, diversity
  • DGGE, denaturing gradient gel electrophoresis
  • EBV, Epstein-Barr virus
  • HIV, human immunodeficiency virus
  • HLA, human major histocompatibility complex
  • HTLV, human T cell lymphotropic virus
  • Ig, immunoglobulin
  • LGL, large granular lymphocytosis
  • J, joining
  • MHC, major histocompatibility complex
  • MRD, minimal residual disease
  • PCR, polymerase chain reaction
  • PTCL, peripheral T cell lymphoma
  • RSS, recombination signal sequences
  • RT, reverse transcription
  • SCID, severe combined immunodeficiency
  • SSCP, single strand conformation polymorphism
  • TCR, T cell receptor
  • TdT, terminal deoxynucleotidyl transferase
  • V, variable

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