title: [Mucopolysaccharidosis II (Hunter syndrome): identification of the carrier state of the disease by means of mutation analysis].
abstract: Identification of iduronate-2-sulfatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection in females, relatives of the patients. We describe here a study on a Hunter family where, after the identification of the primary genetic defect in the patients, we identified carriers unambiguously among at-risk female relatives and excluded such status in other subjects. This is an example of direct, DNA based diagnosis.
authors.affiliation: Dipartimento di Biochimica e Biotecnologie Mediche, Università Federico II di Napoli, Italia.
authors.forename: N
authors.initials: N
authors.lastname: Balzano
authors.forename: G R
authors.initials: GR
authors.lastname: Villani
authors.forename: G
authors.initials: G
authors.lastname: Coppa
authors.forename: P
authors.initials: P
authors.lastname: Di Natale
mesh_terms: D002353:Carrier State; D002648:Child; D004247:DNA; D005260:Female; D005784:Gene Amplification; D015894:Genome, Human; D006801:Humans; D007066:Iduronate Sulfatase / Q000737:chemistry*; D008297:Male; D016532:Mucopolysaccharidosis II / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012307:Risk Factors; D012737:Sex Factors
chemical_list: D004247:DNA; D007066:Iduronate Sulfatase
vernacular_title: Mucopolisaccaridosi tipo II (sindrome di Hunter): identificazione dello stato di portatrice della malattia mediante analisi delle mutazioni.