Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3

Jan C. Pronk, Rachel A. Gibson, Anna Savoia, Mario Wijker, Neil V. Morgan, Salvatore Melchionda, Deborah Ford, Samia Temtamy, Juan J. Ortega, Stander Jansen, Charmaine Havenga, Richard J. Cohn, Thomy J. de Ravel, Irene Roberts, Andries Westerveld, Douglas F. Easton, Hans Joenje, Christopher G. Mathew, Fré Arwert

Research output: Contribution to journalArticlepeer-review


Fanconi anaemia (FA) is an autosomal recessive disorder associated with diverse developmental abnormalities, bone-marrow failure and predisposition to cancer1. FA cells show increased chromosome breakage and hypersensitivity to DMA cross-linking agents such as diepoxybutane and mitomycin C. Somatic-cell hybridisation analysis of FA cell lines has demonstrated the existence of at least five complementation groups (FA-A to FA-E)2,3, the most common of which is FA-A4. This genetic heterogeneity has been a major obstacle to the positional cloning of FA genes by classical linkage analysis. The FAC gene was cloned by functional complementation5, and localised to chromosome 9q22.3 (ref. 2), but this approach has thus far failed to yield the genes for the other complementation groups. We have established a panel of families classified as FA-A by complementation analysis, and used them to search for the FAA gene by linkage analysis. We excluded the previous assignment by linkage6 of an FA gene to chromosome 20q, and obtained conclusive evidence for linkage of FAA to microsatellite markers on chromosome 16q24.3. Strong evidence of allelic association with the disease was detected with the marker D16S303 in the Afrikaner population of South Africa, indicating the presence of a founder effect.

Original languageEnglish
Pages (from-to)338-340
Number of pages3
JournalNature Genetics
Issue number3
Publication statusPublished - 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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