Send to

Choose Destination
See comment in PubMed Commons below
Hum Genet. 1992 Nov;90(3):327.

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

Author information

  • 1Department of Chemical Pathology, Adelaide Children's Hospital, Australia.


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.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Loading ...
    Support Center