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

  title={PCR detection of two RFLPs in exon I of the $\alpha$-L-iduronidase (IDUA) gene},
  author={Hamish S. Scott and Tom Litjens and J. J. Hop wood and Charles Phillip Morris},
  journal={Human Genetics},
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. 
Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants
This study evaluated 586 variants obtained from the literature review, five population databases, in addition to dbSNP, Human Genome Mutation Database (HGMD), and ClinVar, finding 122 variants had total consensus among the five predictors, with 57 classified as predicted deleterious and 65 as predicted neutral.


Huntington disease-linked locusD4S111 exposed as the α-l-iduronidase gene
α-l-Iduronidase (IDUA) has been intensively studied due to its causative role in mucopolysaccharidosis type I and was found to be coincident with D4S111, an anonymous locus displaying a highly informative multiallele DNA polymorphism.
Human alpha-L-iduronidase: cDNA isolation and expression.
  • H. Scott, D. Anson, J. Hopwood
  • Biology, Chemistry
    Proceedings of the National Academy of Sciences of the United States of America
  • 1991
expression of a full-length IDUA cDNA construct in Chinese hamster ovary cells produced human IDUA protein at a level 13-fold higher than, and with a specific activity comparable to, IDUA present in normal human fibroblasts.
Huntington Disease-Linked Locus D4Slll Exposed as the C~-L-Iduronidase Gene
This paper presents a meta-analyses of the Y-chromosome-lysosomal Diseases Research Unit, which highlights the importance of knowing the carrier and removal status of canine coronavirus as a source of infection for other types of cancer.
1991c) PCR of a VNTR linked to mucopolysaccharidoses type I and Huntington disease
  • Nucleic Acids Res
  • 1991
PCR of a Kpnl RFLP in the a-L-iduronidase (IDUA) gene
Human Ct-L-iduronidase: cDNA isolation and expression
  • Proc Natl Acad Sci USA
  • 1991