Analysis of a large multi-generational family provides insight into the genetics of chronic lymphocytic leukemia.
Fuller, Stephen J;
Papaemmanuil, Elli;
McKinnon, Leah;
Webb, Emily;
Sellick, Gabrielle S;
Dao-Ung, Lan-Phuong;
Skarratt, Kristen K;
Crowther, Dalemari;
Houlston, Richard S;
Wiley, James S;
(2008)
Analysis of a large multi-generational family provides insight into the genetics of chronic lymphocytic leukemia.
British journal of haematology, 142 (2).
pp. 238-245.
ISSN 0007-1048
DOI: https://doi.org/10.1111/j.1365-2141.2008.07188.x
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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.
