Two polymorphic AvaI and HhaI sites in a differentially methylated region of the human H19 gene

Jpn J Hum Genet. 1996 Jun;41(2):253-5. doi: 10.1007/BF01875986.

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 We found a 50% methylated region in the human H19 gene (Jinno, unpublished data).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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Base Sequence
  • Chromosomes, Human, Pair 19 / genetics*
  • DNA Methylation
  • Genomic Imprinting
  • Humans
  • Mice
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length*