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 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.

[1]  Hans Joenje,et al.  The Fanconi anaemia group G gene FANCG is identical with XRCC9 , 1998, Nature Genetics.

[2]  A. Liebman,et al.  Systematic Reviews: Synthesis of Best Evidence for Health Care Decisions , 1998, Annals of Internal Medicine.

[3]  T. Wienker,et al.  Localisation of a Fanconi anaemia gene to chromosome 9p , 1998, European Journal of Human Genetics.

[4]  K. Kinzler,et al.  The Genetic Basis of Human Cancer , 1997 .

[5]  M. Buchwald,et al.  Evidence for at least eight Fanconi anemia genes. , 1997, American journal of human genetics.

[6]  R. Wegner,et al.  Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient , 1996, Clinical genetics.

[7]  N. Alon,et al.  Erratum: Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA , 1996, Nature Genetics.

[8]  C. Mathew,et al.  Positional cloning of the Fanconi anaemia group A gene , 1996, Nature Genetics.

[9]  Hans Joenje,et al.  Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA , 1996, Nature Genetics.

[10]  Cécile Fizames,et al.  A comprehensive genetic map of the human genome based on 5,264 microsatellites , 1996, Nature.

[11]  C. Mathew,et al.  Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3 , 1995, Nature Genetics.

[12]  S. Naylor,et al.  Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p , 1995, Nature Genetics.

[13]  M. Buchwald,et al.  Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. , 1995, Blood.

[14]  J. Clayton-Smith,et al.  Radial ray defects, renal ectopia, duodenal atresia and hydrocephalus: the extended spectrum for Fanconi anaemia. , 1994, Clinical Dysmorphology.

[15]  M. Buchwald,et al.  Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9 , 1992, Nature Genetics.

[16]  W. R. Shannon,et al.  Cloning of cDNAs for Fanconi's anaemia by functional complementation , 1992, Nature.

[17]  E S Lander,et al.  Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. , 1987, Science.