Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene

• Published in: Human genetics 1997, Vol.99 (1), p.93-97
• Main Authors: SAVOIA, A, PIEMONTESE, M. R, ZELANTE, L, SAVINO, M, ZATTERALE, A, PRONK, J, ARWERT, F, JOENJE, H, RAMENGHI, U, DANGA-BRICARELLI, F, DALLAPICCOLA, B
• Format: Article
• Language: English
• Subjects: Anemias. Hemoglobinopathies; Biological and medical sciences; Cell Cycle Proteins; Chromosome Mapping; Chromosomes, Human, Pair 9; Cloning, Molecular; Consanguinity; Diseases of red blood cells; DNA-Binding Proteins; Fanconi Anemia - genetics; Fanconi Anemia Complementation Group Proteins; Female; Genetic Complementation Test; Genetic Linkage; Genetic Markers; Haplotypes; Hematologic and hematopoietic diseases; Homozygote; Humans; Italy; Male; Medical sciences; Nuclear Proteins; Pedigree; Proteins - genetics
• ISSN: 0340-6717; 1432-1203

Fanconi anaemia (FA) is an autosomal recessive disease characterised by 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 microsatellite markers. To define the localisation of the FAA locus further, microsatellites were analysed at 16q24. All the families were consistent with linkage, the highest lod score being observed with D16S1320. Evidence for common haplotypes was obtained in two genetic isolates from the Brenta basin and the Naples region. Autozygosity mapping and haplotype analysis suggest that the FAA locus is distal to D16S305.