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Article dans une revue Tunisie Medicale Année : 2004

[Molecular study of Fanconi anemia in Tunisia].

Etude moleculaire de l'anémie de Fanconi en Tunisie

Résumé

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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Dates et versions

hal-01974071, version 1 (08-01-2019)

Identifiants

  • HAL Id : hal-01974071 , version 1
  • PUBMED : 15453041

Citer

Chiraz Bouchlaka, Sonia Abdelhak, Koussay Dellagi, Groupe d'Etude de La Maladie de Fanconi En Tunisie. Etude moleculaire de l'anémie de Fanconi en Tunisie. Tunisie Medicale, 2004, 82 (5), pp.402-10. ⟨hal-01974071⟩
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