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- Title
Analysis of a large multi-generational family provides insight into the genetics of chronic lymphocytic leukemia.
- Authors
Fuller, Stephen J.; Papaemmanuil, Elli; McKinnon, Leah; Webb, Emily; Sellick, Gabrielle S.; Lan-Phuong Dao-Ung; Skarratt, Kristen K.; Crowther, Dalemari; Houlston, Richard S.; Wiley, James S.
- 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.
- Subjects
CHRONIC lymphocytic leukemia; FAMILIAL diseases; GENETIC mutation; GENOMES; GENETIC polymorphisms; ETIOLOGY of diseases; DISEASE susceptibility
- Publication
British Journal of Haematology, 2008, Vol 142, Issue 2, p238
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/j.1365-2141.2008.07188.x