Blooms syndrome cells are characterized by high sister chromatid exchange (SCE) and microsatellite repeat instability
Journal Article
·
· American Journal of Human Genetics
OSTI ID:133507
- Univ. of Cincinnati College of Medicine, OH (United States)
- New York Blood Center, NY (United States)
Blooms syndrome (BS) is characterized by cancer predispositions and a high frequency of chromatid exchanges, both between and within chromosomes. Single cells from a BS cell culture and a normal cell culture were used to derive two sets of 30 non-selected clonal cell lines. DNAs from these clones were examined for DNA alterations at microsatellite repeat loci. In the BS cell clones, di- and trinucleotide repeat sequences, some of which are disease-associated, were found to be unstable in a high number of cell lines. For the first 11 loci tested, 7 new alleles were observed in 8 BS cell clones. Three of these cell clones carried a novel allele of the same size at the same locus, suggesting that only one genotype-altering event had occurred in some cells of the original BS cell culture prior to cloning. In one BS clone, reciprocal recombinant alleles were observed. Alleles at two loci were altered in three of the normal cell clones. Two of these clones carried a novel allele of the same size at the same locus, suggesting that, again, only one genotype-altering event had occurred in some cells of the original normal cell culture prior to cloning. Therefore, the higher frequency at which new alleles are generated in the BS cell clones as compared to the normal cell clones parallels the increased frequency at which SCEs are observed in BS cells. Therefore, SCE may be one mechanism by which dinucleotide and disease-associated triplet repeats undergo small expansions or contractions and thereby generate polymorphism.
- OSTI ID:
- 133507
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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