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

Anna Savoia; Maria Rosaria Piemontese; Maria Savino; Adriana Zatterale; Jan Pronk; Fre Arwert; Hans Joenje; Ugo Ramenghi; Franca Dagna-Bricarelli; Bruno Dallapiccola; Leopoldo Zelante

doi:10.1007/s004390050318

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

Anna Savoia, Maria Rosaria Piemontese, Maria Savino, Adriana Zatterale, Jan Pronk, Fre Arwert, Hans Joenje, Ugo Ramenghi, Franca Dagna-Bricarelli, Bruno Dallapiccola, Leopoldo Zelante

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	93-97
Number of pages	5
Journal	Human Genetics
Volume	99
Issue number	1
DOIs	https://doi.org/10.1007/s004390050318
Publication status	Published - Jan 1997

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene. / Savoia, Anna; Piemontese, Maria Rosaria; Savino, Maria; Zatterale, Adriana; Pronk, Jan; Arwert, Fre; Joenje, Hans; Ramenghi, Ugo; Dagna-Bricarelli, Franca; Dallapiccola, Bruno; Zelante, Leopoldo.

In: Human Genetics, Vol. 99, No. 1, 01.1997, p. 93-97.

Research output: Contribution to journal › Article › peer-review

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abstract = "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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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

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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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