[Fanconi anemia].

Abstract

Fanconi anemia is a rare autosomal recessive disorder which is characterized with chromosomal fragility and hypersensitivity to DNA cross-link agents. There are large variability in phenotype even among patients of single family. Therefore, diagnosis depends solely on hypersensitivity to DNA cross-link agents. At present at least 8 complement groups are known and 3 genes, FANCA, FANCC and FANCG, have been cloned. There is controversies concerning intracellular localization and interaction between these genes. Although the mechanism of the final effect of products of these genes leading to Fanconi anemia phenotype, chromosomal fragility and ultimately development of cancers is not fully understand, increasing evidence shows that gene products seems to work to prevent oxygen injury by reactive oxygen species rather than repair of DNA injury.