دورية أكاديمية
[Molecular study of Fanconi anemia in Tunisia]. ; Etude moleculaire de l'anémie de Fanconi en Tunisie
| العنوان: | [Molecular study of Fanconi anemia in Tunisia]. ; Etude moleculaire de l'anémie de Fanconi en Tunisie |
|---|---|
| المؤلفون: | Bouchlaka, Chiraz, Abdelhak, Sonia, Dellagi, Koussay, Tunisie, Groupe, d'Etude de La Maladie de Fanconi En |
| المساهمون: | Laboratoire d'Immunopathologie, Vaccinologie et Génétique Moléculaire (LVGM), Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP) |
| المصدر: | ISSN: 0041-4131 ; Tunisie Medicale ; https://hal.science/hal-01974071Test ; Tunisie Medicale, 2004, 82 (5), pp.402-10. |
| بيانات النشر: | HAL CCSD Maghreb-Editions; 1999 |
| سنة النشر: | 2004 |
| المجموعة: | Réseau International des Instituts Pasteur, Paris: HAL-RIIP |
| مصطلحات موضوعية: | MESH: Adolescent, MESH: Adult, MESH: Infant, MESH: Male, MESH: Mutation, MESH: Pedigree, MESH: Tunisia, MESH: Bone Marrow Transplantation, MESH: Child, Preschool, MESH: Fanconi Anemia/classification, MESH: Fanconi Anemia/genetics, MESH: Fanconi Anemia/surgery, MESH: Female, MESH: Humans, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology |
| الوصف: | International audience ; 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | French |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/15453041; hal-01974071; https://hal.science/hal-01974071Test; PUBMED: 15453041 |
| الإتاحة: | https://hal.science/hal-01974071Test |
| رقم الانضمام: | edsbas.8F1A65EB |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |