A common polymorphism in exon 40 of the human mannose 6-phosphate/insulin-like growth factor II receptor gene

Mol Cell Probes. 1999 Oct;13(5):397-400. doi: 10.1006/mcpr.1999.0260.

Abstract

Mammalian mannose 6-phosphate/insulin-like growth factor II receptor (M6P/IGF2R) binds insulin-like growth factor II and ligands containing an M6P recognition marker like the latent transforming growth factor-beta. Its genetic alteration has been associated with tumorigenesis of various tumours. We report here a novel polymorphism in exon 40 of the human M6P/IGF2R gene (6206A-->G, Asn2020Ser). The G allele frequency was 0.347 in Japanese. Observed heterozygosity was 0.468. The polymorphism may be useful for studying loss of heterozygosity in primary tumours and gene imprinting.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 6 / genetics
  • Exons
  • Gene Frequency
  • Humans
  • Japan / epidemiology
  • Mannosephosphates / genetics*
  • Microsatellite Repeats
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single-Stranded Conformational
  • Receptor, IGF Type 1 / genetics*
  • Sequence Analysis, DNA

Substances

  • Mannosephosphates
  • mannose-6-phosphate
  • Receptor, IGF Type 1

Associated data

  • GENBANK/Y00285