Investigation of chromosome 13 band Q14 lesions in B-cell chronic lymphocytic leukaemia : evidence for a novel tumour suppressor gene
Investigation of chromosome 13 band Q14 lesions in B-cell chronic lymphocytic leukaemia : evidence for a novel tumour suppressor gene
Chronic lymphocytic leukaemia is the commonest B-cell malignancy in the Western world, yet nothing is known of its aetiology.
Consistent chromosomal abnormalities are reported in CLL including structural rearrangements of chromosome 13. These rearrangements include translocations and deletions invariably involving band q14 in up to 25% of cases. This study attempts to analyse the q14 region of chromosome 13 which includes the retinoblastoma susceptibility gene and a number of other genetic markers in order to establish a possible mechanism of tumourigenesis.
Material from 81 CLL patients previously diagnosed and karyotyped was examined. Using intragenic polymorphic markers, it was found that a minority of both chromosome 13 translocation and deletion cases showed loss of heterozygosity at the retinoblastoma locus. By the application of other techniques including microsatellite polymorphism analysis and quantitative densitometry, using probes telomeric to RB1, the frequency of loss of heterozygosity increased and bi-allelic loss was detected. Bi-allelic loss appeared to be confined to a critical region between markers D13S319 and D13S25.
This study shows, for the first time, that chromosome translocations may be associated with loss of genetic material as well as the aberrant expression of normal or chimeric oncogenes. In CLL this loss is clustered to a critical region which is the probable site of a novel tumour suppressor gene. As the genetic rearrangements are associated with early disease and are often found as the sole abnormality, they are likely to be the initiating event in tumourigenesis.
University of Southampton
Chapman, Robert Macdonald
1996
Chapman, Robert Macdonald
Chapman, Robert Macdonald
(1996)
Investigation of chromosome 13 band Q14 lesions in B-cell chronic lymphocytic leukaemia : evidence for a novel tumour suppressor gene.
University of Southampton, Doctoral Thesis.
Record type:
Thesis
(Doctoral)
Abstract
Chronic lymphocytic leukaemia is the commonest B-cell malignancy in the Western world, yet nothing is known of its aetiology.
Consistent chromosomal abnormalities are reported in CLL including structural rearrangements of chromosome 13. These rearrangements include translocations and deletions invariably involving band q14 in up to 25% of cases. This study attempts to analyse the q14 region of chromosome 13 which includes the retinoblastoma susceptibility gene and a number of other genetic markers in order to establish a possible mechanism of tumourigenesis.
Material from 81 CLL patients previously diagnosed and karyotyped was examined. Using intragenic polymorphic markers, it was found that a minority of both chromosome 13 translocation and deletion cases showed loss of heterozygosity at the retinoblastoma locus. By the application of other techniques including microsatellite polymorphism analysis and quantitative densitometry, using probes telomeric to RB1, the frequency of loss of heterozygosity increased and bi-allelic loss was detected. Bi-allelic loss appeared to be confined to a critical region between markers D13S319 and D13S25.
This study shows, for the first time, that chromosome translocations may be associated with loss of genetic material as well as the aberrant expression of normal or chimeric oncogenes. In CLL this loss is clustered to a critical region which is the probable site of a novel tumour suppressor gene. As the genetic rearrangements are associated with early disease and are often found as the sole abnormality, they are likely to be the initiating event in tumourigenesis.
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Published date: 1996
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Local EPrints ID: 460199
URI: http://eprints.soton.ac.uk/id/eprint/460199
PURE UUID: 57ceb3a8-2bff-4366-b86c-77d5192b94c2
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Date deposited: 04 Jul 2022 18:10
Last modified: 04 Jul 2022 18:10
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Author:
Robert Macdonald Chapman
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