DNA repair and the molecular mechanisms of Bloom's syndrome.

摘要: This critical review considers recent work on alterations in DNA repair capacity Bloom's syndrome as a molecular mechanism for this human disorder. Four main types of deficiencies are discussed. These include perturbations the temporal regulation pathways during cell cycle, failure to enhance proliferation, reduced levels ligase cells, and identification mutant enzyme proteins. considered relation cellular characteristics syndrome, including delays replication, hypermutability, increased incidence chromosomal aberrations (spontaneously occurring or observed after exposure environmental agents). The relationship between genetic basis is described. Previous evidence suggested an autosomal recessive mode inheritance syndrome. A discussion presented through which alteration single gene could result multiple defects.