학술논문
Linkage analysis for ATM in familial B cell chronic lymphocytic leukaemia.
Document Type
Journal Article
Author
Source
Subject
*CHRONIC lymphocytic leukemia
*CHROMOSOMES
*ATAXIA telangiectasia
*COMPARATIVE studies
*GENETICS
*RESEARCH methodology
*MEDICAL cooperation
*GENETIC mutation
*PROTEIN kinases
*PROTEINS
*RESEARCH
*TRANSFERASES
*DNA-binding proteins
*EVALUATION research
*DISEASE prevalence
*GENETIC carriers
*CELL cycle proteins
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Language
ISSN
0887-6924
Abstract
B cell chronic lymphocytic leukaemia (CLL) shows evidence of familial aggregation, but the inherited basis is poorly understood. Mutations in the ATM gene have been demonstrated in CLL. This, coupled with a possibly increased risk of leukaemia in relatives of patients with Ataxia Telangiectasia, led us to question whether the ATM gene is involved in familial cases of CLL. To examine this proposition we typed five markers on chromosome 11q in 24 CLL families. No evidence for linkage between CLL and ATM in the 24 families studied and the best estimates of the proportion of sibling pairs that share no, one or both haplotypes at ATM were not different from their null expectations. This would imply that ATM is unlikely to make a significant contribution to the three-fold increase in risk of CLL seen in relatives of patients. [ABSTRACT FROM AUTHOR]