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

✍ Scribed by H. S. Scott; T. Litjens; J. J. Hop wood; C. P. Morris

Publisher: Springer
Year: 1992
Tongue: English
Weight: 92 KB
Volume: 90
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00220095

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✦ Synopsis

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.

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