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

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...

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Bibliographic Details
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
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Summary: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.
ISSN:0340-6717
1432-1203