Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene |
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| Authors: | A Savoia Maria Rosaria Piemontese Maria Savino Adriana Zatterale J Pronk F Arwert Hans Joenje Ugo Ramenghi Franca Dagna-Bricarelli Bruno Dallapiccola Leopoldo Zelante |
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| Institution: | (1) Servizio di Genetica Medica, IRCCS-Ospedale CSS, San Giovanni Rotondo, I-71013 Foggia, Italy Tel.: +39 882 410825; Fax: +39 882 411616 e-mail: genetcss@isnet.it, IT;(2) Servizio di Citogenetica, Ospedale “Elena d’Aosta”, Napoli, Italy, IT;(3) Department of Human Genetics, Free University, Amsterdam, The Netherlands, NL;(4) Ematologia, Dipartimento di Scienze Pediatriche e dell’Adolescenza, Università di Torino, Italy, IT;(5) Centro Regionale di Genetica Umana, E.O. Galliera, Genova, Italy, IT |
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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 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.
Received: 29 July 1996 |
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