title: A common polymorphism in exon 40 of the human mannose 6-phosphate/insulin-like growth factor II receptor gene.
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.
authors.affiliation: Department of Molecular Biology, Toho University School of Medicine, Tokyo, 143-8540, Japan.
authors.forename: X
authors.initials: X
authors.lastname: Zhong
authors.forename: H
authors.initials: H
authors.lastname: Hemmi
authors.forename: H
authors.initials: H
authors.lastname: Shimatake
mesh_terms: D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D005091:Exons; D005787:Gene Frequency; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008360:Mannosephosphates / Q000235:genetics*; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D017526:Receptor, IGF Type 1 / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D008360:Mannosephosphates; C027693:mannose-6-phosphate; D017526:Receptor, IGF Type 1