Bloom's syndrome |
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| Authors: | Joanna Groden James German |
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| Affiliation: | (1) The New York Blood Center and Cornell University Graduate School of Medical Sciences, 10021 New York, NY, USA;(2) Present address: Howard Hughes Medical Institute, University of Utah Medical School, 84112 Salt Lake City, UT, USA;(3) The New York Blood Center, 310 East 67th Street, 10021 New York, NY, USA |
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| Abstract: | D1Z2 is a highly polymorphic DNA locus composed of a tandem of repetitive units. Its molecular constitution has been examined in 61 clonal cell lines selected at random from two lymphoblastoid cell lines (LCLs), each of which had been proliferating in vitro for several hundred days. Thirty-three of the cells were selected from an LCL derived from the blood of a person with Bloom's syndrome (BS), and the others from a normal person. A total of 20 distinctive band alterations in D1Z2 were observed, all in BS cells: appearance of a novel band(s); disappearance of a band(s), or alterations in the intensity of a band(s). Unequal sister-chromatid exchange giving rise to intra-locus mutation is considered the most plausible explanation for the accumulation of the changes detected.This paper is dedicated to Ulrich Wolf on his 60th birthday and acknowledges his important contributions to human biology |
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