The Fanconi anemia group E gene, FANCE, maps to chromosome 6p

Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive dise ase with bone marrow failure and predisposition to cancer as major features , often accompanied by developmental anomalies. The cells of patients with FA are hypersensitive to DNA cross-linking agents in terms of cell survival and chromosomal breakage. Of the eight complementation groups (FA-A to FA- H) distinguished thus far by cell fusion studies, the genes for three-FANCA , FANCC, and FANCG-have been identified, and the FANCD gene has been locali zed to chromosome 3p22-26. We report here the use of homozygosity mapping a nd genetic linkage analysis to map a fifth distinct genetic locus for FA. D NA from three families was assigned to group FA-E by cell fusion and comple mentation analysis and was then used to localize the FANCE gene to chromoso me 6p21-22 in an 18.2-cM region flanked by markers D6S422 and D6S1610. This study shows that data from even a small number of families can be successf ully used to map a gene for a genetically heterogeneous disorder.