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Springer (part of Springer Nature), Human Genetics, 6(88), p. 701-702

DOI: 10.1007/bf02265303

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

Journal article published in 1992 by Hamish S. Scott, Paul V. Nelson, Alan Cooper, J. Edward Wraith, J. Edward Wraith, John J. Hopwood, C. Phillip Morris ORCID, C. Phillip Morris
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This paper is available in a repository.

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Abstract

Two polymorphisms exist in the alpha-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.