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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Heterozygote detection through bleomycin-induced G2 chromatid breakage in dyskeratosis congenita families.

We determined the mean number of chromatid breaks per cell (b/c) in the bleomycin-treated lymphocytes of 10 patients with dyskeratosis congenita (DC) and 26 of their relatives to ascertain whether bleomycin sensitivity would distinguish DC heterozygotes from normal individuals. We observed a significantly higher mean number of chromatid b/c in DC patients and obligate heterozygotes (patients versus controls, p less than 0.0001; heterozygotes versus controls, p = 0.0076, Mann-Whitney rank-sum test). Unequivocal heterozygote detection was not possible owing to overlap of the b/c values of patients, heterozygotes, and controls, but our findings provided strong evidence of a link between autosomal recessive as well as X-linked recessive DC mutations and bleomycin sensitivity in homozygous, hemizygous, and heterozygous individuals.[1]

References

  1. Heterozygote detection through bleomycin-induced G2 chromatid breakage in dyskeratosis congenita families. Ning, Y., Yongshan, Y., Pai, G.S., Gross, A.J. Cancer Genet. Cytogenet. (1992) [Pubmed]
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