6533b838fe1ef96bd12a3f0f

RESEARCH PRODUCT

Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe.

A. C. SewellCharles P. MorrisJohn J. HopwoodMathias BeckEberhard SchwingerAndreas Gal

subject

MaleX ChromosomeMucopolysaccharidosisIduronate SulfataseBiologyGene mappingComplementary DNAGenotypeGeneticsmedicineHumansAlleleChildDeoxyribonucleases Type II Site-SpecificGenetics (clinical)Mucopolysaccharidosis IIGeneticsGenetic Carrier ScreeningHunter syndromeHeterozygote advantagemedicine.diseaseMolecular biologyEnzyme assayPedigreeBlotting Southernbiology.proteinDNA ProbesPolymorphism Restriction Fragment Length

description

Hunter disease (McKusick 309900) is an X-chromosomal mucopolysaccharidosis due to deficiency of the lysosomal enzyme iduronate-2-sulphatase (IDS; EC 3.1.6.13). Diagnosis is based on both the typical clinical features of patients and the lack/reduction of IDS activity. Female carriers show no symptoms of the disease. In the past, several different assays were elaborated for measuring enzyme activity in carriers but none of them proved to be suitable for detecting heterozygotes reliably (Zlotogora and Bach 1984)

yearjournalcountryeditionlanguage
1992-05-01Journal of inherited metabolic disease
10.1007/bf02435972https://pubmed.ncbi.nlm.nih.gov/1357230