Fanconi anaemia complementation group J

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Fanconi anaemia complementation group J2016-12-04T07:07:41+00:00

Fanconi anaemia complementation group J

HAEMATOLOGY

Definition A disorder (OMIM:609054) affecting all 3 haematopoietic cell lines, resulting in anaemia, leukopaenia and thrombopaenia, accompanied by cardiac, renal and limb malformations, dermal pigment changes, and increased risk of cancer.

Pathogenesis The condition is characterised by hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

Molecular pathology Defects of BRIP1 encodes a protein in a complex that plays a role in double-strand break repair by BRCA1, cause Fanconi anaemia complementation group J. 

References http://www.uniprot.org/uniprot/Q9BX63

http://www.omim.org/entry/609054 

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