Hirano A, Nagai H, Harada H, Terada Y, Haga S, Kajiwara T, Emi M
Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, Kawasaki, Japan.
J Hum Genet. 2001;46(1):35-7. doi: 10.1007/s100380170122.
We identified nine single-nucleotide polymorphisms (SNPs) in the human integrin beta4 (ITGB4) gene (17q24-q25), which encodes a cell-surface receptor, by screening all exons and exon-intron boundaries. Seven of these SNPs were present in coding regions and two in intronic sequences; four of the coding SNPs involved amino-acid substitutions. As the gene is implicated in the tumorigenesis of breast cancers, the polymorphic sites will serve as useful markers not only for distinguishing alleles in loss of heterozygosity (LOH) analyses but also for studying genetic susceptibility to malignancies in humans.
