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- Title
Four single-nucleotide polymorphisms in the human BUB1 gene.
- Authors
Kanbe, T.; Nobukuni, T.; Kawasaki, H.; Sekiya, T.; Murakami, Y.
- Abstract
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 8bp 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.
- Subjects
GENETIC polymorphisms; HUMAN genetics; CANCER genetics
- Publication
Journal of Human Genetics, 2001, Vol 46, Issue 3, p150
- ISSN
1434-5161
- Publication type
Article
- DOI
10.1007/PL00010920