title: Two polymorphic AvaI and HhaI sites in a differentially methylated region of the human H19 gene.
abstract: The H19 gene is paternally imprinted both in the human and mouse (Bartolomei et al., 1991; Zhang and Tycko, 1992), although its expression pattern seems somewhat different between the two species (Jinno et al., 1995). DNA-methylation is a promising candidate for a parent-of-origin mark of the gene, and a paternal allele-specific methylation imprint was recently identified at the mouse H19 locus (Tremblay et al., 1995). We found a 50% methylated region in the human H19 gene (Jinno, unpublished data). A search for polymorphisms in this region revealed two novel AvaI and HhaI RFLPs, which contribute to the detection of allele-specific methylation at the human H19 locus.
authors.affiliation: Department of Human Genetics, Nagasaki University School of Medicine, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Miyatake
authors.forename: Y
authors.initials: Y
authors.lastname: Ikeda
authors.forename: Y
authors.initials: Y
authors.lastname: Jinno
authors.forename: N
authors.initials: N
authors.lastname: Niikawa
mesh_terms: D000483:Alleles; D000818:Animals; D001483:Base Sequence; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D019175:DNA Methylation; D018392:Genomic Imprinting; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length