Molecular Diagnostics–Techniques and Applications for the Clinical Laboratory by Wayne W. Grody & Robert M. Nakamura & Charles M. Strom & Frederick L. Kiechle

Molecular Diagnostics–Techniques and Applications for the Clinical Laboratory by Wayne W. Grody & Robert M. Nakamura & Charles M. Strom & Frederick L. Kiechle

Author:Wayne W. Grody & Robert M. Nakamura & Charles M. Strom & Frederick L. Kiechle
Language: eng
Format: epub
ISBN: 9780080919041
Publisher: Academic Press
Published: 2010-06-14T16:00:00+00:00


VII.A.1. Immunoglobulin Heavy and Light Chain Gene Rearrangement Studies

By definition, all B-cell derived lymphomas are composed of a population of clonal B cells that contain identical immunoglobulin gene rearrangements. The IGH locus is on chromosome region 14q32 and spans approximately 1Mb of DNA. It contains over 100 variable (V), 26 diversity (D), and 6 joining (J) region genes. The IGH locus is rearranged to produce a contiguous VDJ segment that encodes a complete immunoglobulin heavy chain (Figure 21.1). The joining of the gene segments is imprecise, and the enzyme terminal deoxynucleotidyl transferase adds variable nucleotides between the VD and DJ segments during IGH rearrangement. In addition, following VDJ recombination, the V segment undergoes somatic hypermutation. The previously described mechanisms contribute to antibody diversity and produce a unique immunoglobulin gene rearrangement in each mature B cell. Following IGH rearrangement, the IGK light chain locus on 2p12 is rearranged. This process is similar to that of the heavy chain locus, except the light chain loci do not contain D region genes. If the kappa light chain rearrangement does not produce a functional allele on either chromosome, the immunoglobulin lambda (IGL) light chain locus on 22q11 is rearranged.



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