Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15.

ABSTRACT: Bloom syndrome (BSx) is a rare autosomal-recessive chromosome-instability disorder manifested by a constellation of clinical features including a significant predisposition to early onset of neoplasia. BSx cells display cytogenetic abnormalities, the pathognomonic feature being an increased rate of spontaneous sister chromatid exchanges (SCEs), 10- to 15-fold more frequent than SCEs seen in control cells. Identification of the primary biochemical defect in BSx and its relationship to SCE frequency and neoplasia have been complicated by reports that BSx cell lines exhibit defects in the structure and/or activity of a number of different enzymes. The rare occurrence of the disorder and lack of informative families have precluded mapping of the primary defect by standard linkage analysis. We

SUBMITTER: McDaniel LD 

PROVIDER: S-EPMC49836 | biostudies-literature | 1992 Sep

REPOSITORIES: biostudies-literature