The Fanconi Anemia Group E Gene, FANCE, Maps to Chromosome 6p

Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive disease 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...

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Bibliographic Details
Published in:American journal of human genetics 1999-05, Vol.64 (5), p.1400-1405
Main Authors: Waisfisz, Quinten, Altay, Cigdem, Leegwater, Peter A., de Winter, Johan P., Komatsu, Kenshi, Evans, Gareth R., Wegner, Rolf-Dieter, Reis, André, Joenje, Hans, Arwert, Fré, Mathew, Christopher G., Pronk, Jan C., Saar, Kathrin, Morgan, Neil V., Digweed, Martin
Format: Article
Language:English
Subjects:
Anemias. Hemoglobinopathies
Biological and medical sciences
Cell Fusion
Chromosome 6p21-22
Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...)
Chromosome Mapping
Chromosomes, Human, Pair 6 - genetics
Complementation analysis
Diseases of red blood cells
FANCE
Fanconi anemia
Fanconi Anemia - genetics
Female
Genetic Complementation Test - methods
Genetic Markers - genetics
Hematologic and hematopoietic diseases
Homozygosity mapping
Humans
Male
Medical genetics
Medical sciences
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Summary:Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive disease 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 localized to chromosome 3p22-26. We report here the use of homozygosity mapping and genetic linkage analysis to map a fifth distinct genetic locus for FA. DNA from three families was assigned to group FA-E by cell fusion and complementation analysis and was then used to localize the FANCE gene to chromosome 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 successfully used to map a gene for a genetically heterogeneous disorder.
ISSN:0002-9297
1537-6605
DOI:10.1086/302385