Hum Genet. 1992 Nov;90(3):327.

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

Scott HS, Litjens T, Hopwood JJ, Morris CP.

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

Abstract

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.

PMID:: 1362562; [PubMed - indexed for MEDLINE]

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Related citations in PubMed

PCR of a KpnI RFLP in the alpha-L-iduronidase (IDUA) gene. [Nucleic Acids Res. 1991]
PCR of a KpnI RFLP in the alpha-L-iduronidase (IDUA) gene.
Scott HS, Nelson PV, Hopwood JJ, Morris CP. Nucleic Acids Res. 1991 Oct 25; 19(20):5796.
Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3. [Am J Hum Genet. 1990]
Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3.
Scott HS, Ashton LJ, Eyre HJ, Baker E, Brooks DA, Callen DF, Sutherland GR, Morris CP, Hopwood JJ. Am J Hum Genet. 1990 Nov; 47(5):802-7.
Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. [Somat Cell Mol Genet. 1991]
Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.
MacDonald ME, Scott HS, Whaley WL, Pohl T, Wasmuth JJ, Lehrach H, Morris CP, Frischauf AM, Hopwood JJ, Gusella JF. Somat Cell Mol Genet. 1991 Jul; 17(4):421-5.
Structure and sequence of the human alpha-L-iduronidase gene. [Genomics. 1992]
Structure and sequence of the human alpha-L-iduronidase gene.
Scott HS, Guo XH, Hopwood JJ, Morris CP. Genomics. 1992 Aug; 13(4):1311-3.
Review Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. [Hum Mutat. 1995]
Review Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ. Hum Mutat. 1995; 6(4):288-302.

See reviews... See all...

Cited by 1 PubMed Central article

Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families. [J Med Genet. 1997]
Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.
Lee-Chen GJ, Wang TR. J Med Genet. 1997 Nov; 34(11):939-41.

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PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene.
PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene.
Hum Genet. 1992 Nov ;90(3):327.

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