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Studies of Rearrangements and Somatic Hypermutation of IGHV Genes in Chronic Lymphocytic Leukemia

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Molecular Aspects of Hematologic Malignancies

Part of the book series: Principles and Practice ((PRINCIPLES))

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Abstract

In this chapter, we present protocols used for the study of several aspects of immunoglobulin heavy variable (IGHV) gene mutational status, including material collection and preparation, polymerase chain reaction amplification, clonality testing, sequencing, and also data analysis, interpretation, and reporting. This chapter is based on guidelines on technical aspects and interpretation (Ghia et al., Leukemia 21:1–3, 2007; Davi et al., Leukemia 22:212–214, 2008; Langerak et al., Leukemia 25:979–984, 2011), as developed by the European Research Initiative on chronic lymphocytic leukemia (CLL) (ERIC) (www.ericll.org). Consideration of all of these aspects in a clinical diagnostic setting is highly relevant in order to generate a reliable IGHV–IGHD–IGHJ gene rearrangement sequence and to correctly report the IGHV mutational status for individual CLL patients to the referring clinician.

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Correspondence to Anton W. Langerak .

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Langerak, A.W., Rosenquist, R., Ghia, P., Belessi, C., Stamatopoulos, K., Davi, F. (2012). Studies of Rearrangements and Somatic Hypermutation of IGHV Genes in Chronic Lymphocytic Leukemia. In: Witt, M., Dawidowska, M., Szczepanski, T. (eds) Molecular Aspects of Hematologic Malignancies. Principles and Practice. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-29467-9_26

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