TY - JOUR
T1 - Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene
AU - Savoia, Anna
AU - Piemontese, Maria Rosaria
AU - Savino, Maria
AU - Zatterale, Adriana
AU - Pronk, Jan
AU - Arwert, Fre
AU - Joenje, Hans
AU - Ramenghi, Ugo
AU - Dagna-Bricarelli, Franca
AU - Dallapiccola, Bruno
AU - Zelante, Leopoldo
PY - 1997/1
Y1 - 1997/1
N2 - 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 be tween 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.
AB - 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 be tween 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.
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U2 - 10.1007/s004390050318
DO - 10.1007/s004390050318
M3 - Article
C2 - 9003502
AN - SCOPUS:0031060706
VL - 99
SP - 93
EP - 97
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 1
ER -