Are Fanconi Anaemia genes inactivated in sporadic acute myeloid leukemia?

TL;DRAbstract

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 res

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