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Tunisie Medicale [La]. 2004; 82 (5): 402-410
em Francês | IMEMR | ID: emr-206062

RESUMO

Fanconi anemia [FA] is an autosomal recessive rare disease characterized by progressive pancytopenia, congenital malformations and predisposition to acute myeloid leukemia. Fanconi anemia is genetically heterogeneous, with at least eight complementation groups of FA [FAA to FAD2]. In order to characterize the molecular defects underlying FA in Tunisia, fourty-one families were genotyped with microsatellite markers linked to known FA gene. Haplotype analysis and homozygosity mapping showed that 92% of these families belong to FAA group. We demonstrated the effectiveness of the molecular analysis for a better selection of bone marrow graft donor and for the evaluation of chimerism after bone marrow transplantation. This study also allows genetic counselling for FA family members

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