The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder?

Abstract excerpt

The Bloom syndrome, caused by mutations in a single gene [BLM (15q26.1)], is a rare genomic instability syndrome. Despite its autosomal recessive transmission, it shows a male dominance, suggesting the possibility of a subgroup with X-linked recessive inheritance. In view of the latest molecular developments achieved in the other genomic instability syndromes, the potential functions of the X chromosome in...

Topics

• Bloom Syndrome
• Chromosomes, Human, X
• Genomic Instability
• Humans
• Mutation
• RecQ Helicases