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

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.