PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene

Hum Genet. 1992 Nov;90(3):327. doi: 10.1007/BF00220095.

Abstract

Two polymorphisms were detected within exon I of the alpha-L-iduronidase (IDUA) gene both of which create restriction endonuclease sites and one of which changes an amino acid. The polymorphisms may be detected by digesting the same 245-bp polymerase chain reaction product. The polymorphisms can be used diagnostically in families with IDUA deficiency (mucopolysaccharidosis type I) and Huntington disease, which is closely linked to the IDUA locus.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 4
  • DNA, Single-Stranded
  • Exons*
  • Gene Frequency
  • Humans
  • Iduronidase / genetics*
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length*

Substances

  • DNA, Single-Stranded
  • Iduronidase