Abstract
Four single-nucleotide polymorphisms have been found in the human BUB1 gene, which encodes a kinase involved in the mitotic spindle checkpoint. A cytosine-to-thymine change in exon 10, corresponding to codon 375 (c.1124C>T), causes an amino acid substitution of serine to phenylalanine. A guanine/cytosine polymorphism in exon 4 (c.279G>C) and a thymine/cytosine polymorphism in exon 12 (c.1293T>C) do not cause amino acid substitution. The other polymorphism, of thymine/cytosine (IVS9-8T>C), is found at 8 bp upstream of exon 10. As mutations of the hBUB1 gene were reported in a subset of human cancers, these polymorphisms could provide useful tools for the genetic study of susceptibility to various human cancers.
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Received: November 28, 2000 / Accepted: December 15, 2000
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Kanbe, T., Nobukuni, T., Kawasaki, H. et al. Four single-nucleotide polymorphisms in the human BUB1 gene. J Hum Genet 46, 150–151 (2001). https://doi.org/10.1007/PL00010920
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DOI: https://doi.org/10.1007/PL00010920