Back mutation can produce phenotype reversion in Bloom syndrome somatic cells

  title={Back mutation can produce phenotype reversion in Bloom syndrome somatic cells},
  author={N. Ellis and S. Ciocci and J. German},
  journal={Human Genetics},
  • N. Ellis, S. Ciocci, J. German
  • Published 2001
  • Biology, Medicine
  • Human Genetics
  • Abstract. A unique and constant feature of Bloom syndrome (BS) cells is an excessive rate of sister-chromatid exchange (SCE). However, in approximately 20% of persons with typical BS, mosaicism is observed in which a proportion of lymphocytes (usually a small one) exhibits a low-SCE rate. Persons with such mosaicism predominantly are genetic compounds for mutation at BLM, and the low-SCE lymphocytes are the progeny of a precursor cell in which intragenic recombination between the two sites of… CONTINUE READING

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