Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene.
Hum Genet
; 99(1): 93-7, 1997 Jan.
Article
em En
| MEDLINE
| ID: mdl-9003502
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 9
/
Proteínas Nucleares
/
Proteínas
/
Proteínas de Ciclo Celular
/
Proteínas de Ligação a DNA
/
Anemia de Fanconi
/
Ligação Genética
Limite:
Female
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
1997
Tipo de documento:
Article
País de afiliação:
Itália