LINKAGE ANALYSIS OF FANCONI-ANEMIA IN ITALY AND MAPPING OF THE COMPLEMENTATION GROUP-A GENE

Fanconi anaemia (FA) is an autosomal recessive disease characterised b y genetic heterogeneity, with at least five complementation groups (FA -A to FA-E). The FAC gene has been cloned and localised to 9q22.3. The most frequent defective gene, FAA, was recently mapped to chromosome 16q24.3, in a region of 10 cM between D16S498 and the telomere. Eleven FA-A and 16 unclassified Italian families were analysed by microsatel lite markers. To define the localisation of the FAA locus further, mic rosatellites were analysed at 16q24. All the families were consistent with linkage, the highest lod score being observed with D16S1320. Evid ence for common haplotypes was obtained in two genetic isolates from t he Brenta basin and the Naples region. Autozygosity mapping and haplot ype analysis suggest that the FAA locus is distal to D16S305.