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

Nature Genetics volume 11, pages 338–340 (1995)Cite this article

Abstract

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.

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Author information

Author notes

  1. Jan C. Pronk, Rachel A. Gibson and Anna Savoia: The first three authors contributed equally to this study

Authors and Affiliations

  1. Department of Human Genetics, Free University, Amsterdam, The Netherlands

    Jan C. Pronk, Mario Wijker, Hans Joenje & Fré Arwert

  2. Division of Medical and Molecular Genetics UMDS, Guy's Hospital, London, UK

    Rachel A. Gibson, Neil V. Morgan & Christopher G. Mathew

  3. Servizio di Genetica Medica, I.R.C.C.S.-Ospedale C.S.S., S. Giovanni Rotondo, Foggia, Italy

    Anna Savoia & Salvatore Melchionda

  4. Section of Epidemiology, Institute of Cancer Research, Surrey, UK

    Deborah Ford & Douglas F. Easton

  5. Department of Human Genetics, National Research Centre, Cairo, Egypt

    Samia Temtamy

  6. Hematology and BMT Unit, Hospital Infantil Vall d'Hebron, Barcelona, Spain

    Juan J. Ortega

  7. Departments of Human Genetics and Paediatrics, University of the Orange Free State Medical School, Bloemfontein, South Africa

    Stander Jansen & Charmaine Havenga

  8. Departments of Human Genetics and Paediatrics, South African Institute of Medical Research and the University of the Witwatersrand, South Africa

    Richard J. Cohn & Thomy J. de Ravel

  9. Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK

    Irene Roberts

  10. Department of Human Genetics, Academic Medical Centre, University of Amsterdam, The Netherlands

    Andries Westerveld

Authors
  1. Jan C. Pronk
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  2. Rachel A. Gibson
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  3. Anna Savoia
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  4. Mario Wijker
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  7. Deborah Ford
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  8. Samia Temtamy
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  9. Juan J. Ortega
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  10. Stander Jansen
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  11. Charmaine Havenga
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  12. Richard J. Cohn
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  13. Thomy J. de Ravel
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  14. Irene Roberts
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  15. Andries Westerveld
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  16. Douglas F. Easton
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  17. Hans Joenje
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  18. Christopher G. Mathew
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  19. Fré Arwert
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Pronk, J., Gibson, R., Savoia, A. et al. Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3. Nat Genet 11, 338–340 (1995). https://doi.org/10.1038/ng1195-338

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