Author: | Lit, Man-wai |
Title: | Rearrangement of the myeloid-lymphoid leukaemia (MLL) gene in childhood acute leukaemia in Hong Kong Chinese |
Degree: | M.Sc. |
Year: | 1999 |
Subject: | Myelocytic leukemia -- Genetic aspects Leukemia in children -- China -- Hong Kong Acute leukemia -- China -- Hong Kong Chinese -- China -- Hong Kong Hong Kong Polytechnic University -- Dissertations |
Department: | Multi-disciplinary Studies Department of Nursing and Health Sciences |
Pages: | ix, 67 leaves : ill. ; 30 cm |
Language: | English |
Abstract: | The myeloid-lymphoid leukaemia (MLL) gene, located on chromosome band 11q23, is fused to a variety of other genes by reciprocal chromosomal translocations that occur in acute lymphoblastic leukaemia (ALL) and acute myeloid leukaemia (AML). In both scenarios, MLL rearrangements are associated with distinct clinical features and a poor prognosis. Recently, partial tandem duplication (PTD) within the MLL gene has been described as a novel genetic alteration in AML, and reported to be present in the majority of patients with AML and trisomy 11 as a sole cytogenetic abnormality and in 11% of patients with ALML and nonnal cytogenetics. In this study, 27 cases of childhood acute leukaemia (<= 16 years old) were analyzed to determine the frequencies of the MLL gene rearrangement and partial tandem duplicatioa. MLL gene rearrangement was analyzed by Southern blotting with MLL P/S 4 probe on Hind III digest. For the detection and characterization of the MLL gene duplication, nested reverse-transcription polymerase chain reaction (RT-PCR) was performed. On this basis, this project showed a frequency of 4.3% (1/23) of MLL gene rearrangement in childhood acute leukaemia in Hong Kong Chinese. In particular, the frequency of MLL gene rearrangement in childhood ALL in Hong Kong Chinese was 6.7% (1/15) which was quite similar to those reported in Western countries (3 to 10% in childhood ALL cases). On the other hand, no positive case with PTD of MLL gene was found in this study, indicating that it was very rare in childhood acute leukaemia in Hong Kong Chinese. Several recent studies suggest that a positive nested RT-PCR when used alone as a single molecular test may not be sufficient to diagnose MLL-PTD-associated leukaemia but it may simply demonstrate the presence of a benign, possibly scrambled transcript. Therefore, nested PCR assays must be rigorously tested to ensure that they can reliably distinguish between Ieukaemic patients that have low levels of disease and healthy individuals that carry rare nonmalignant cells with a specific molecular defect. |
Rights: | All rights reserved |
Access: | restricted access |
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