Literature DB >> 1362562

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

H S Scott1, T Litjens, J J Hopwood, C P Morris.   

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.

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Year:  1992        PMID： 1362562     DOI： 10.1007/bf00220095

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  5 in total

1.  PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease.

Authors:  H S Scott; P V Nelson; J J Hopwood; C P Morris
Journal:  Nucleic Acids Res       Date:  1991-11-25       Impact factor: 16.971

2.  PCR of a KpnI RFLP in the alpha-L-iduronidase (IDUA) gene.

Authors:  H S Scott; P V Nelson; J J Hopwood; C P Morris
Journal:  Nucleic Acids Res       Date:  1991-10-25       Impact factor: 16.971

3.  Human alpha-L-iduronidase: cDNA isolation and expression.

Authors:  H S Scott; D S Anson; A M Orsborn; P V Nelson; P R Clements; C P Morris; J J Hopwood
Journal:  Proc Natl Acad Sci U S A       Date:  1991-11-01       Impact factor: 11.205

4.  Structure and sequence of the human alpha-L-iduronidase gene.

Authors:  H S Scott; X H Guo; J J Hopwood; C P Morris
Journal:  Genomics       Date:  1992-08       Impact factor: 5.736

5.  Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.

Authors:  M E MacDonald; H S Scott; W L Whaley; T Pohl; J J Wasmuth; H Lehrach; C P Morris; A M Frischauf; J J Hopwood; J F Gusella
Journal:  Somat Cell Mol Genet       Date:  1991-07
  5 in total
  1 in total

1.  Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.

Authors:  G J Lee-Chen; T R Wang
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318
  1 in total

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