PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene.
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.
Scott
H S
HS
Department of Chemical Pathology, Adelaide Children's Hospital, Australia.
Litjens
T
T
Hopwood
J J
JJ
Morris
C P
CP
D001483:Base Sequence; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D004277:DNA, Single-Stranded; D005091:Exons; D005787:Gene Frequency; D006801:Humans; D007068:Iduronidase / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D004277:DNA, Single-Stranded; D007068:Iduronidase