|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
2009-9-15
|
|
pubmed:abstractText |
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.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jun
|
|
pubmed:issn |
1365-2141
|
|
pubmed:author |
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
142
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
238-45
|
|
pubmed:dateRevised |
2010-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:18503587-Adult,
pubmed-meshheading:18503587-Aged,
pubmed-meshheading:18503587-B-Lymphocytes,
pubmed-meshheading:18503587-Chromosome Mapping,
pubmed-meshheading:18503587-DNA Mutational Analysis,
pubmed-meshheading:18503587-Family,
pubmed-meshheading:18503587-Flow Cytometry,
pubmed-meshheading:18503587-Genes, Immunoglobulin Heavy Chain,
pubmed-meshheading:18503587-Genetic Linkage,
pubmed-meshheading:18503587-Genetic Predisposition to Disease,
pubmed-meshheading:18503587-Genome-Wide Association Study,
pubmed-meshheading:18503587-Humans,
pubmed-meshheading:18503587-Immunoglobulin Heavy Chains,
pubmed-meshheading:18503587-Immunophenotyping,
pubmed-meshheading:18503587-Leukemia, Lymphocytic, Chronic, B-Cell,
pubmed-meshheading:18503587-Lymphocytosis,
pubmed-meshheading:18503587-Middle Aged,
pubmed-meshheading:18503587-Polymorphism, Single Nucleotide
|
|
pubmed:year |
2008
|
|
pubmed:articleTitle |
Analysis of a large multi-generational family provides insight into the genetics of chronic lymphocytic leukemia.
|
|
pubmed:affiliation |
Department of Medicine, The University of Sydney, Nepean Hospital, Penrith, New South Wales, Australia. sfuller@med.usyd.edu.au
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
