Xiaofan Zhu – Autosomal or Sex Linked Recessive Genetic Disease

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Fanconi anemia is a rare autosomal or sex linked recessive genetic disease. The disease is
characterized by bone marrow hematopoiesis failure, multiple congenital abnormalities, and
susceptibility to neoplastic diseases. The cells of FA patients are extremely sensitive to
MMC and DEB. The symptoms and ages of FA patients are different, so by comparing the exome
of FA patients and their parents, the mutations that were accumulated in FA patients could
be found, and these genes might be sensitive to repairment and be important for
hematopoiesis maintainance.

Rare Disease: