Myelin oligodendrocyte glycoprotein polymorphisms and multiple sclerosis
| Autor: | Alessandro Salviati, Giuseppe Moretto, M. D. Benedetti, Deborah Bonamini, Macarena Gomez-Lira, P.F. Pignatti, Nicolo' Rizzuto |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
Central Nervous System
Male Multiple Sclerosis DNA Mutational Analysis Immunology Biology Polymophisms Myelin oligodendrocyte glycoprotein Myelin Gene Frequency Leukocytes medicine Humans Immunology and Allergy Genetic Testing Sclerosis multipla Gene Allele frequency Myelin Sheath Regulation of gene expression Genetics Polymorphism Genetic Base Sequence Myelin-associated glycoprotein Multiple sclerosis MOG gene medicine.disease Molecular biology Axons Oligodendrocyte Myelin-Associated Glycoprotein medicine.anatomical_structure Gene Expression Regulation Neurology Mutation biology.protein Female Myelin-Oligodendrocyte Glycoprotein Neurology (clinical) Myelin Proteins |
| Zdroj: | Journal of Neuroimmunology. 133:241-243 |
| ISSN: | 0165-5728 |
| DOI: | 10.1016/s0165-5728(02)00361-2 |
| Popis: | A detailed analysis of the coding sequences of myelin oligodendrocyte glycoprotei (MOG) gene was performed in multiple sclerosis (MS) patients and in control individuals and three new polymorphisms are described: T636C, nt 571+77C→T (IVS 4), and nt 710−44A→G (IVS 6). Screening studies demonstrated that T636C was present in three MS patients and in no control individual and that polymorphisms nt 571+77C→T (IVS 4), and nt 710−44A→G (IVS 6), were present with no significant frequency differences in MS patients and control individuals. No mutations were found after sequencing the coding sequences of the extracellular domain of MOG gene in 20 MS patients and 20 control individuals. Screening studies were also performed for known polymorphisms: G15A, Val142Leu, nt 571+68A→G (IVS 4), and 571+92C→G (IVS 4). Polymorphism Val 142 Leu, which is linked to nt 571+68A→G (IVS 4), resulted under-represented in MS patients. |
| Databáze: | OpenAIRE |
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