Mucopolysaccharidosis type I (Hurler syndrome): Linkage disequilibrium indicates the presence of a major allele

Hamish S. Scott, Paul V. Nelson, Alan Cooper, J. Edward Wraith, John J. Hopwood, C. Phillip Morris

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12 Citations (Scopus)

Abstract

Two polymorphisms exist in the α-l-iduronidase (IDUA) gene, the gene that is defective in mucopolysaccharidosis type I (MPS I), viz. a KpnI polymorphism and a variable number of tandem repeats (VNTR) polymorphism with three common alleles. The analysis of allele and haplotype frequencies for these two polymorphisms in the normal population and in MPS I patients revealed the presence of linkage disequilibrium. The frequency of the 2,2 (VNTR, KpnI) allele in MPS I patients was 57% compared with only 37% in the normal population. The implications for the presence of a major MPS I allele and the ability to predict patient phenotype are discussed.

Original languageEnglish
Pages (from-to)701-702
Number of pages2
JournalHuman Genetics
Volume88
Issue number6
DOIs
Publication statusPublished or Issued - 1 Mar 1992

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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