X. Zhong et al., A common polymorphism in exon 40 of the human mannose 6-phosphate/insulin-like growth factor II receptor gene, MOL CELL PR, 13(5), 1999, pp. 397-400
Mammalian mannose 6-phosphate/insulin-like growth factor II receptor (M6P/I
GF2R) binds insulin-like growth factor II and ligands containing an M6P rec
ognition marker like the latent transforming growth factor-beta. Its geneti
c alteration has been associated with tumorigenesis of various tumours. We
report here a novel polymorphism in exon 40 of the human M6P/IGF2R gene (62
06A-->G, Asn2020Ser). The G allele frequency was 0.347 in Japanese. Observe
d heterozygosity was 0.468. The polymorphism may be useful for studying los
s of heterozygosity in primary tumours and gene imprinting. (C) 1999 Academ
ic Press.