A Gln/Arg polymorphism at codon 349 of the hBUBR1 gene

Authors
Katagiri, T Futamura, M Nakamura, Y
Citation
T. Katagiri et al., A Gln/Arg polymorphism at codon 349 of the hBUBR1 gene, J HUM GENET, 44(2), 1999, pp. 131-132
Citations number
2
Categorie Soggetti
Molecular Biology & Genetics
Journal title
JOURNAL OF HUMAN GENETICS
ISSN journal
14345161 → ACNP
Volume
44
Issue
2
Year of publication
1999
Pages
131 - 132
Database
ISI
SICI code
1434-5161(1999)44:2<131:AGPAC3>2.0.ZU;2-Y
Abstract
We found a glutamine/arginine polymorphism at codon 349 of the hBUBR1 gene, encoding a protein kinase required for spindle assembly checkpoint functio n. The observed heterozygosity was estimated to be 45% in the Japanese popu lation. This polymorphism may be helpful for genetic studies of many cancer types in which chromosomal instability is observed.