Tischkowitz, M.D., Morgan, N.V., Eddy, C., Ball, S., Langabeer, S.E., Vorechovsky, I., Stoeger, R., Grimwade, D., Mathew, C.G. and Hodgson, S.V. (2002) Are Fanconi Anaemia genes inactivated in sporadic acute myeloid leukemia? European Journal of Human Genetics, 10, p.90.
Abstract
Fanconi Anaemia (FA) is an autosomal recessive disorder characterised by congenital abnormalities, defective haemopoesis and a greatly increased risk of Acute Myeloid Leukaemia (AML). We are investigating whether mutations in the FA genes might predispose to the development of sporadic AML. Quantitative fluorescent PCR was used to screen archival DNA from peripheral blood or bone marrow from AML cases for deletions in the cloned FA genes, FANCA, C, D2, E, F, G. Of the 103 samples successfully screened for the FANCA gene, four heterozygous deletions were found (see table). Sequence analysis of the other allele in these four cases did not locate a second mutation. A sodium bisulphite conversion assay was developed to detect methylation of the FANCA CpG island. There was no evidence of allele inactivation by hypermethylation in these 4 samples, nor in a further 28 non-deleted samples. No deletions were found on screening the FANCC, D2, E, F and G genes in 64, 68, 31, 42 and 51 samples respectively. FANCA is a large gene (43 exons, 80kb) with a high incidence of deletion mutations in affected FA patients. These results show that such deletions may also be found in sporadic AML and may have contributed to leukaemogenesis.
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