Bouchlaka Chiraz, Abdelhak Sonia, Dellagi Koussay
Laboratoire d'Immunologie, Vaccinologie et Génétique Moléculaire, Institut Pasteur de Tunis [corrected]
Tunis Med. 2004 May;82(5):402-10.
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.
范可尼贫血（FA）是一种常染色体隐性罕见疾病，其特征为进行性全血细胞减少、先天性畸形以及易患急性髓系白血病。范可尼贫血在遗传上具有异质性，至少有八个FA互补组（FAA至FAD2）。为了确定突尼斯FA潜在的分子缺陷，对41个家庭进行了与已知FA基因相关的微卫星标记基因分型。单倍型分析和纯合性定位表明，这些家庭中有92%属于FAA组。我们证明了分子分析在更好地选择骨髓移植供体以及评估骨髓移植后嵌合体方面的有效性。这项研究还为FA家庭成员提供了遗传咨询。
