文本框: THE GENETIC SUBTYPE OF 3 CASES WITH FANCONI ANEMIA
Peng GJ, XieY*, Wang KY, Xia H*, Hu Q, Chen YH*, Liu SY, Zhang LQ 
Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology, Wuhan,China
*People`s Hospital of Hubei Province, Wuhan, China

Objective: To explore the clinical manifestations and genetic subtype of patients with Famconi anemia (FA).
Methods: 3 children with FA were investigated clinically; Mitomycin C (MMC)-induced chromosomal breakage tests of the peripheral blood lymphocytes from 3 cases were done; The genetic subtype of FA was done by cell fusion and complementation analysis.
Results: 3 cases with FA were all exhibited bone-marrow failure, congenital multiple malformation.MMC-induced chromosomal breakages in peripheral blood lymphocytes from 3 cases were much higher than those in healthy controls, and their subtypes are group A gene (FANCA).
Conclusion: FA is an autosomal recessive disease characterized with dysfunction of bone-marrow hematopoiesis, congenital multiple malformation and not good effect of treatment. Our study indicated that peripheral blood lymphocytes from 3 cases with FA were hypersensitive to DNA cross-linking agent (MMC); Genetic subtype may offer valuable information for gene therapy, and improve the treatment of the hereditary disease.

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