Abstract
Cell fusion studies using lymphoblastoid cell lines from Fanconi anaemia (FA) patients have identified five complementation groups (FA-A to FA-E) among European FA patients. In Italy, of the 45 FA families referred to the Italian Registry of Fanconi Anaemia (RIAF), 15 took part in a project for the identification of complementation groups. Since three immortalized lymphoblast lines were resistant to a cross-linking agent, we analysed only 12 patients by complementation analysis and found that 11 belong to complementation group A. Four and seven families came from two geographic clusters in the Veneto and Campania regions, respectively, which are thought to consist of aggregates of related families in reproductive isolation. The clinical characteristics of the patients showed both intra- and interfamilial heterogeneity, although overall the disease had a relatively mild course. Since the populations in both Veneto and Campania are likely to represent genetic isolates, our finding predicts linkage disequilibrium for markers flanking the FAA gene. DNAs from these FA families may thus be utilized for positional cloning of this gene through haplotype disequilibrium mapping.
| Original language | English |
|---|---|
| Pages (from-to) | 599-603 |
| Number of pages | 5 |
| Journal | Human Genetics |
| Volume | 97 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - May 1996 |
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ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Fanconi anaemia in Italy : High prevalence of complementation group A in two geographic clusters. / Savoia, Anna; Zatterale, Adriana; Del Principe, Domenico; Joenje, Hans.
In: Human Genetics, Vol. 97, No. 5, 05.1996, p. 599-603.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Fanconi anaemia in Italy
T2 - High prevalence of complementation group A in two geographic clusters
AU - Savoia, Anna
AU - Zatterale, Adriana
AU - Del Principe, Domenico
AU - Joenje, Hans
PY - 1996/5
Y1 - 1996/5
N2 - Cell fusion studies using lymphoblastoid cell lines from Fanconi anaemia (FA) patients have identified five complementation groups (FA-A to FA-E) among European FA patients. In Italy, of the 45 FA families referred to the Italian Registry of Fanconi Anaemia (RIAF), 15 took part in a project for the identification of complementation groups. Since three immortalized lymphoblast lines were resistant to a cross-linking agent, we analysed only 12 patients by complementation analysis and found that 11 belong to complementation group A. Four and seven families came from two geographic clusters in the Veneto and Campania regions, respectively, which are thought to consist of aggregates of related families in reproductive isolation. The clinical characteristics of the patients showed both intra- and interfamilial heterogeneity, although overall the disease had a relatively mild course. Since the populations in both Veneto and Campania are likely to represent genetic isolates, our finding predicts linkage disequilibrium for markers flanking the FAA gene. DNAs from these FA families may thus be utilized for positional cloning of this gene through haplotype disequilibrium mapping.
AB - Cell fusion studies using lymphoblastoid cell lines from Fanconi anaemia (FA) patients have identified five complementation groups (FA-A to FA-E) among European FA patients. In Italy, of the 45 FA families referred to the Italian Registry of Fanconi Anaemia (RIAF), 15 took part in a project for the identification of complementation groups. Since three immortalized lymphoblast lines were resistant to a cross-linking agent, we analysed only 12 patients by complementation analysis and found that 11 belong to complementation group A. Four and seven families came from two geographic clusters in the Veneto and Campania regions, respectively, which are thought to consist of aggregates of related families in reproductive isolation. The clinical characteristics of the patients showed both intra- and interfamilial heterogeneity, although overall the disease had a relatively mild course. Since the populations in both Veneto and Campania are likely to represent genetic isolates, our finding predicts linkage disequilibrium for markers flanking the FAA gene. DNAs from these FA families may thus be utilized for positional cloning of this gene through haplotype disequilibrium mapping.
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U2 - 10.1007/s004390050101
DO - 10.1007/s004390050101
M3 - Article
C2 - 8655138
AN - SCOPUS:0029947378
VL - 97
SP - 599
EP - 603
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 5
ER -