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

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Summary

Two polymorphisms exist in the α-l-iduronidase (IDUA) gene, the gene that is defective in mucopolysaccharidosis type I (MPS I), viz. aKpnI 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.

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Authors and Affiliations

  1. Department of Chemical Pathology, Adelaide Children's Hospital, 72 King William Road, SA 5006, North Adelaide, Australia

    Hamish S. Scott, Paul V. Nelson, John J. Hopwood & C. Phillip Morris

  2. Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, UK

    Alan Cooper & J. Edward Wraith

Authors
  1. Hamish S. Scott
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  2. Paul V. Nelson
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  3. Alan Cooper
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  4. J. Edward Wraith
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  5. John J. Hopwood
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  6. C. Phillip Morris
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Scott, H.S., Nelson, P.V., Cooper, A. et al. Mucopolysaccharidosis type I (Hurler syndrome): Linkage disequilibrium indicates the presence of a major allele. Hum Genet 88, 701–702 (1992). https://doi.org/10.1007/BF02265303

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  • DOI: https://doi.org/10.1007/BF02265303

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