[Molecular study of Fanconi anemia in Tunisia].
[Molecular study of Fanconi anemia in Tunisia].
复制标题
[突尼斯范可尼贫血的分子研究]。
DOI：
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发表时间：
2004
期刊：
影响因子：
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通讯作者：
K. Dellagi
中科院分区：
文献类型：
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作者：
C. Bouchlaka;S. Abdelhak;K. Dellagi
范可尼贫血（FA）是一种常染色体隐性遗传罕见疾病，其特征是进行性全血细胞减少、先天性畸形和易患急性髓系白血病。范可尼贫血具有遗传异质性，至少有 8 个 FA 互补组（FAA 至 FAD2）。为了表征突尼斯 FA 的分子缺陷，使用与已知 FA 基因相关的微卫星标记对 41 个家族进行了基因分型。单倍型分析和纯合性作图表明，92%的家族属于FAA家族。我们证明了分子分析对于更好地选择骨髓移植供体以及评估骨髓移植后嵌合状态的有效性。这项研究还允许对 FA 家庭成员进行遗传咨询。
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.