The Gene of Bloom's Syndrome:An Autosomal Recessive Disorder with Male Dominance

摘要

We read with great interest the recent article by Amor-Gueret et al. (2008) ("Three new BLM gene mutations associated with Bloom syndrome"). They reported on their development of a method for screening the BLM gene for mutations based on direct genomic DNA sequencing. Herein, we present our opinion related to the BLM gene along with a recent experience.rnBloom's syndrome (BSyn), which is one of the fields of interest in hematology and genetics, is a rare inherited disorder characterized by stunted growth, sun sensitivity, and a high predisposition to cancer as a consequence of genomic instability. It is inherited in an autosomal recessive (AR) manner. BSyn is caused by a genetic mutation on chromosome 15 (BLM gene). BLM is the only gene known to be mutated in BSyn. It was mapped to chromosome band 15q26.1 in 1994 and isolated in 1995. To date, approximately 70 mutations of BLM have been described. With the present study by Amor-Gueret et al., three new mutations have been added to those already known. However, despite the advanced molecular methods, there are still some verified patients in whom no mutations in BLM could be detected.