Myelin oligodendrocyte glycoprotein polymorphisms and multiple sclerosis.
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.
Gomez-Lira
M
M
Department of Mother and Child, Biology and Genetics, Section Biology and Genetics, Università di Verona, Strada Le Grazie 8, 37134, Verona, Italy. macarena.gomez-lira@univr.it
Moretto
G
G
Bonamini
D
D
Benedetti
M D
MD
Pignatti
P F
PF
Rizzuto
N
N
Salviati
A
A
D001369:Axons / Q000276:immunology / Q000378:metabolism; D001483:Base Sequence / Q000235:genetics; D002490:Central Nervous System / Q000276:immunology / Q000378:metabolism / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D005786:Gene Expression Regulation / Q000276:immunology; D005787:Gene Frequency / Q000276:immunology; D005820:Genetic Testing; D006801:Humans; D007962:Leukocytes / Q000276:immunology; D008297:Male; D009103:Multiple Sclerosis / Q000097:blood / Q000235:genetics* / Q000276:immunology; D009154:Mutation / Q000235:genetics*; D009185:Myelin Proteins; D009186:Myelin Sheath / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D018992:Myelin-Associated Glycoprotein / Q000235:genetics* / Q000276:immunology; D063308:Myelin-Oligodendrocyte Glycoprotein; D011110:Polymorphism, Genetic / Q000235:genetics*
C571326:MOG protein, human; D009185:Myelin Proteins; D018992:Myelin-Associated Glycoprotein; D063308:Myelin-Oligodendrocyte Glycoprotein