Nine novel single-nucleotide polymorphisms in the integrin beta4 (ITGB4) gene in the Japanese population

J Hum Genet. 2001;46(1):35-7. doi: 10.1007/s100380170122.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, CD / genetics*
  • Base Sequence
  • Chromosomes, Human, Pair 17
  • DNA Primers
  • Exons
  • Humans
  • Integrin beta4
  • Introns
  • Japan
  • Loss of Heterozygosity
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Polymorphism, Single-Stranded Conformational

Substances

  • Antigens, CD
  • DNA Primers
  • Integrin beta4