title: Myelin oligodendrocyte glycoprotein (MOG) polymorphisms and adrenoleukodystrophy.
abstract: We describe four novel sequence variants in the Myelin Oligodendrocyte Glycoprotein (MOG) gene. A total of six sequence variants of the MOG gene were identified in eleven out of 44 ALD patients investigated: G15A, CTC repeat in exon 1, Val142Leu, Val145Ile, 551+68A-->G and 551+77C-->T. Screening studies demonstrated that all these polymorphisms are present in 50 unaffected control male individuals of the same population and in the different phenotypes of ALD patients, indicating that they do not contribute to phenotype variability in ALD.
authors.affiliation: Section of Biolgy and Genetics, Department of mother and child, biology and genetics, Università di Verona, Strada Le Grazie 8, 37134, Verona, Italy. macarena@borgoroma.univr.it
authors.forename: M
authors.initials: M
authors.lastname: Gomez-Lira
authors.forename: M G
authors.initials: MG
authors.lastname: Marzari
authors.forename: G
authors.initials: G
authors.lastname: Uziel
authors.forename: P
authors.initials: P
authors.lastname: Pignatti
authors.forename: N
authors.initials: N
authors.lastname: Rizzuto
authors.forename: A
authors.initials: A
authors.lastname: Salviati
mesh_terms: D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000276:immunology*; D000328:Adult; D002648:Child; D017931:DNA Primers; D005091:Exons / Q000235:genetics / Q000276:immunology; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009185:Myelin Proteins; D018992:Myelin-Associated Glycoprotein / Q000235:genetics* / Q000276:immunology; D063308:Myelin-Oligodendrocyte Glycoprotein; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000276:immunology*
chemical_list: D017931:DNA Primers; C571326:MOG protein, human; D009185:Myelin Proteins; D018992:Myelin-Associated Glycoprotein; D063308:Myelin-Oligodendrocyte Glycoprotein