Pm. Jakobs et al., COMPLEMENTATION GROUP ASSIGNMENTS IN FANCONI-ANEMIA FIBROBLAST CELL-LINES FROM NORTH-AMERICA, Somatic cell and molecular genetics, 23(1), 1997, pp. 1-7
Fanconi anemia is a rare autosomal recessive disease characterized by
developmental defects of the thumb and radius, childhood onset of panc
ytopenic anemia and increased risk of leukemia. At least five compleme
ntation groups (A-E) have been defined but only the FAC gene has been
cloned. Cells can be assigned to complementation group C by direct mut
ation analysis. To facilitate the search for additional FA genes and t
o measure the frequency of complementation groups, we have established
new genetically marked immortalized FA-A and FA-D fibroblast cell lin
es and show their usefulness as universal fusion donors. These referen
ce FA cell lines facilitated somatic cell fusion analysis and enabeled
us to assign the complementation group in 16 unrelated FA patients fr
om North America, The majority of patients, belong to FA complementati
on group A (69%), followed by FA-C (18%), FA-D (4%) and FA-B or FA-E (
9%).