G2Cdb::Human Disease report

Disease id
D00000226
Name
Monosymptomatic idiopathic optic neuritis
Nervous system disease
yes

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001807 MBP
myelin basic protein
Y (9345452) Repeat polymorphism (RP) N

References

  • PCR typing of two short tandem repeat (STR) structures upstreams of the human myelin basic protein (MBP) gene; the genetic susceptibility in multiple sclerosis and monosymptomatic idiopathic optic neuritis in Danes.

    Nellemann LJ, Frederiksen J and Morling N

    Department of Forensic Genetics, University of Copenhagen, Denmark.

    We investigated two short tandem tetranucleotide (TGGA) repeat polymorphisms upstreams of the myelin basic protein (MBP) gene. The region was amplified by the polymerase chain reaction (PCR) and the two repeat systems were separated by cutting with the restriction enzyme NlaIII. The lengths of the DNA fragments were analyzed by vertical electrophoresis in polyacrylamide gels followed by silver staining. We compared the DNA fragment frequencies of the two MBP regions in 34 patients suffering from multiple sclerosis and in 78 suffering from monosymptomatic idiopathic optic neuritis to those in 200 healthy controls. We found no significant differences between the MBP fragment frequencies in either of the patient groups and in the control group.

    Multiple sclerosis (Houndmills, Basingstoke, England) 1995;1;3;186-9

Literature (1)

Pubmed - human_disease

  • PCR typing of two short tandem repeat (STR) structures upstreams of the human myelin basic protein (MBP) gene; the genetic susceptibility in multiple sclerosis and monosymptomatic idiopathic optic neuritis in Danes.

    Nellemann LJ, Frederiksen J and Morling N

    Department of Forensic Genetics, University of Copenhagen, Denmark.

    We investigated two short tandem tetranucleotide (TGGA) repeat polymorphisms upstreams of the myelin basic protein (MBP) gene. The region was amplified by the polymerase chain reaction (PCR) and the two repeat systems were separated by cutting with the restriction enzyme NlaIII. The lengths of the DNA fragments were analyzed by vertical electrophoresis in polyacrylamide gels followed by silver staining. We compared the DNA fragment frequencies of the two MBP regions in 34 patients suffering from multiple sclerosis and in 78 suffering from monosymptomatic idiopathic optic neuritis to those in 200 healthy controls. We found no significant differences between the MBP fragment frequencies in either of the patient groups and in the control group.

    Multiple sclerosis (Houndmills, Basingstoke, England) 1995;1;3;186-9

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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