Bloom syndrome is a rare autosomal recessive disorder characterized by telangiectases and photosensitivity, growth deficiency of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types. Bloom patients are much smaller than average, and often have a high-pitched voice and characteristic facial features including a long, narrow face; small lower jaw; and prominent nose and ears. Butterfly shaped red skin patches appear on the face. BLM patients may also have learning disabilities, mental retardation and chronic lung problems. BLM patients are predisposed to many types of cancer early in life. Frequency of Bloom syndrome in general population is not known but it is found more common in Ashkenazi Jews. Approximately one third of people with Bloom syndrome are of Ashkenazi Jewish descent.


BLM is due to mutation in the gene designated BLM (OMIM-210900), traced to band 15q26.1. The protein encoded by the normal gene has DNA helicase activity and functions in the maintenance of genomic stability. Increased sister chromatid exchanges and chromosomal instability also occur, which is assumed to be responsible for the phenotype and the cancer predisposition.

 

The aim of this work is to


Identify and characterize genes involved in the signaling of DNA repair pathway using BLM as model.