Blooms syndrome

Shiraishi Y. 1986. Hypersensitive eharacter of Bloom syndrome B-lymphoblastoid cell lines usable for sensitive eareinogen detection. Mut Res 175(3) 179-187. 

Cells of patients with Bloom syndrome (BS) have many chromosome breaks and a high frequency of sister chromatid exchanges, perhaps in an effort to correct these breaks. The body is small but well-proportioned.kk A somewhat similar disease, the Werner syndrome (WS), is associated with premature aging.11 The Bloom s protein BLM and the WS gene product WRN are both helicases related to E.coli RecQ. Protein BLM colocalizes with replication protein A as discrete foci in the meiotic synaptonemal complex.1 3 Protein WRN also seems to be associated with DNA replication. Defects... 

Inactivation of mechanisms responsible for DNA-repair This is a group of mutations affecting the ability to repair the DNA damage and include different syndromes such as HNPCC, Xeroderma pigmentosum. Ataxia telangectasia and Bloom syndrome. 

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