Fanconi anaemia (FA) is a genetically heterogeneous disease with at least eight 
complementation groups (A-H). In the present study, we investigated the 
molecular basis of the disease in 13 unrelated Israeli Jewish (non-Ashkenazi) 
patients with FA. All 43 exons of the Fanconi anaemia A (FANCA) gene were 
amplified from genomic DNA and screened for mutations by single-strand 
conformation polymorphism and DNA sequencing. We identified four ethnic-specific 
mutations: (1) 2172-2173insG (exon 24), the first 'Moroccan mutation': (2) 
4275delT (exon 43), the second 'Moroccan mutation'; (3) 890-893del (exon 10), 
the 'Tunisian mutation'; and (4) 2574C > G (S858R), the 'Indian mutation'. The 
tetranucleotide CCTG motif, previously identified as a mutation hotspot in FANCA 
and other human genes, was found in the vicinity of 2172-2173insG and 
890-893del. According to our study, the four mutations account for the majority 
(88%) of the FANCA alleles in the Israeli Jewish (non-Ashkenazi) FA population. 
A screening of 300 Moroccan Jews identified three carriers of the first 
'Moroccan mutation', but we did not find any carrier of the second 'Moroccan 
mutation' among 140 Moroccan Jews, nor any carrier of the 'Tunisian mutation' 
among 50 Tunisian Jews. Two 'Indian mutation' carriers were identified among 53 
Indian Jews. All carriers within each ethnic group had the same haplotype, 
suggesting a common founder for each mutation.