Abstract
We identified nine single-nucleotide polymorphisms (SNPs) in the human integrin β4 (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.
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Received: September 13, 2000 / Accepted: October 6, 2000
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Hirano, A., Nagai, H., Harada, H. et al. Nine novel single-nucleotide polymorphisms in the integrin β4 (ITGB4) gene in the Japanese population. J Hum Genet 46, 35–37 (2001). https://doi.org/10.1007/s100380170122
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DOI: https://doi.org/10.1007/s100380170122