title: Use of IGHJ and IGHD gene mutations in analysis of immunoglobulin sequences for the prognosis of chronic lymphocytic leukemia.
abstract: The level of somatic point mutation in immunoglobulin genes is an important prognostic indicator for patients with chronic lymphocytic leukemia (CLL). Mutation analysis presently focuses solely upon the heavy chain IGHV gene, however mutation is a stochastic process that also targets IGHD and IGHJ genes. Here, we evaluate the completeness and reliability of the reported IGHJ gene repertoire, and demonstrate the likely consequences of the inclusion of IGHD and IGHJ mutations in CLL analysis, using a dataset of 607 sequences. Inclusion of these mutations would lead to the re-classification of many sequences, which should significantly improve the prognostic value of mutation analysis.
authors.affiliation: School of Biotechnology and Biomolecular Sciences, University of New South Wales, Kensington, Sydney, NSW 2052, Australia.
authors.forename: Cindy E H
authors.initials: CE
authors.lastname: Lee
authors.forename: Katherine J L
authors.initials: KJ
authors.lastname: Jackson
authors.forename: William A
authors.initials: WA
authors.lastname: Sewell
authors.forename: Andrew M
authors.initials: AM
authors.lastname: Collins
mesh_terms: D019295:Computational Biology; D030561:Databases, Nucleic Acid; D005787:Gene Frequency; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D007133:Immunoglobulin Joining Region / Q000235:genetics*; D007138:Immunoglobulin delta-Chains / Q000235:genetics*; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011379:Prognosis
chemical_list: D007143:Immunoglobulin Heavy Chains; D007133:Immunoglobulin Joining Region; D007138:Immunoglobulin delta-Chains