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

H. S. Scott, T. Litjens, J. J. Hop wood, C. P. Morris

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)


Two polymorphisms were detected within exon I of the a-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.

Original languageEnglish
Number of pages1
JournalHuman Genetics
Issue number3
Publication statusPublished or Issued - 1 Nov 1992

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this