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

H S Scott; P V Nelson; A Cooper; J E Wraith; J J Hopwood; C P Morris

doi:10.1007/BF02265303

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

Hum Genet. 1992 Mar;88(6):701-2. doi: 10.1007/BF02265303.

Authors

H S Scott¹, P V Nelson, A Cooper, J E Wraith, J J Hopwood, C P Morris

Affiliation

¹ Department of Chemical Pathology, Adelaide Children's Hospital, North Adelaide, Australia.

PMID: 1551679
DOI: 10.1007/BF02265303

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alleles*
Gene Frequency
Haplotypes
Humans
Iduronidase / genetics*
Linkage Disequilibrium*
Mucopolysaccharidosis I / genetics*
Polymerase Chain Reaction
Polymorphism, Genetic

Substances

Iduronidase