Heterozygous carriers for Bloom syndrome exhibit a spontaneously increased micronucleus formation in cultured fibroblasts.
Cultured fibroblasts of homozygotes and heterozygotes for Bloom syndrome exhibit an enhanced formation of micronuclei. The number of spontaneously occurring micronuclei permit clear separation of heterozygotes from either normal controls or homozygous patients without overlap between these groups. The observed differences could not be enhanced further by the addition of various mutagens. We conclude from the increased chromosomal damage that heterozygotes for Bloom syndrome may have a higher risk for malignant diseases.
D001816:Bloom Syndrome / Q000235:genetics* / Q000473:pathology; D002467:Cell Nucleus / Q000648:ultrastructure*; D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D006580:Genetic Carrier Screening; D006579:Heterozygote; D006801:Humans; D008297:Male