Analysis of a large multi-generational family provides insight into the genetics of chronic lymphocytic leukemia.


Fuller, SJ; Papaemmanuil, E; McKinnon, L; Webb, E; Sellick, GS; Dao-Ung, LP; Skarratt, KK; Crowther, D; Houlston, RS; Wiley, JS; (2008) Analysis of a large multi-generational family provides insight into the genetics of chronic lymphocytic leukemia. British journal of haematology, 142 (2). pp. 238-45. ISSN 0007-1048 DOI: https://doi.org/10.1111/j.1365-2141.2008.07188.x

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Abstract

We report the genetic analysis of a large multi-generational family composed of 144 individuals in which 11 members have been diagnosed with chronic lymphocytic leukaemia (CLL). The observation of a significant over-representation of monoclonal B-cell lymphocytosis (MBL) in unaffected family members strongly supports MBL being a surrogate marker of carrier status. A genome-wide linkage scan of the family using high-density 10K single nucleotide polymorphisms provided no significant evidence for a single gene model of disease susceptibility, inviting speculation that susceptibility to CLL has a more complex basis. The absence of a correlation in IGHV usage between affected family members does however argue strongly against exposure to a single super-antigen in disease development.

Item Type: Article
Faculty and Department: Faculty of Epidemiology and Population Health > Dept of Infectious Disease Epidemiology
PubMed ID: 18503587
Web of Science ID: 257550300008
URI: http://researchonline.lshtm.ac.uk/id/eprint/2442

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