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Article

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

Human genetics - 1 Mar 1992

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

Abstract excerpt

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....

Topics

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

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1551679
DOI: 10.1007/BF02265303

Genes

IDUA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1551679-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele.PMID 1551679Read ↗

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