Genetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families

Rachel A. Gibson, Deborah Ford, Stander Jansen, Anna Savoia, Charmaine Havenga, R. David Milner, Thorny J. De Ravel, Richard J. Cohn, Sarah E. Ball, Irene Roberts, Juan C. Llerena, Igor Vorechovsky, Thomas Pearson, Farkondeh Birjandi, Syad S. Hussein, Manuela Murer-Orlando, Douglas F. Easton, Christopher G. Mathew

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Fanconi anaemia is an autosomal recessive disorder associated with increased chromosome breakage and progressive bone marrow failure. The gene for complementation group C (FACC) has been cloned and mapped to chromosome 9q22.3, but neither its genetic location nor the proportion of patients belonging to group C is known. We have used a polymorphism within the FACC gene to localise it within a 5 cM interval on chromosome 9q, bounded by D9S196/D9S197 and D9S176. The genes for Gorlin's syndrome and multiple self-healing squamous epitheliomata have also been mapped to this interval. Linkage analysis with the three highly informative micro-satellite polymorphisms flanking FACC in 36 Fanconi anaemia families showed that only 8% of families were linked to this locus. This indicates that the genes for the other Fanconi anaemia complementation groups must map to one or more different chromosomal locations. The markers also allowed rapid exclusion of 56% of the families in our panel from complementation group C, thus substantially reducing the number of patients who need to be screened for FACC mutations.

Original languageEnglish
Pages (from-to)868-871
Number of pages4
JournalJournal of Medical Genetics
Issue number11
Publication statusPublished - Nov 1994

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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