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Title

Dimorphism of TAP-1 gene in Caucasian with juvenile myoclonic epilepsy and in Tunisian with idiopathic generalized epilepsies

Authors
Layouni, S.
Chouchane, L.
Dogui, M.
Published in International Journal of Immunogenetics. 2010, vol. 37, no. 2, p. 117-123
Abstract Juvenile myoclonic epilepsy (JME) is the most common form of idiopathic generalized epilepsies (IGE) that account for about 5-10% of all types of epilepsies. The first putative locus termed EJM1 is on the human leucocyte antigen (HLA-II) region of chromosome 6p21.3. Interestingly, the EJM1 region includes the Transporter associated with antigen processing 1 (TAP-1) gene encoding the TAP-1, and previous studies have reported associations between HLA-II polymorphisms and different types of epilepsy. In this study, we report an association between two TAP-1 functional polymorphisms the I333V and the D637G and most common IGE in Tunisian population, but we fail to find significant results in Caucasian with JME.
Keywords ATP-Binding Cassette Transporters/*geneticsAdolescentAdultAfrican Continental Ancestry Group/geneticsAllelesChildChromosomes, Human, Pair 6/geneticsEpilepsy/ethnology/*geneticsEuropean Continental Ancestry Group/geneticsFemaleGene FrequencyGenotypeHaplotypesHumansMaleMyoclonic Epilepsy, Juvenile/ethnology/*geneticsPolymerase Chain Reaction*Polymorphism, GeneticPolymorphism, Single-Stranded ConformationalTunisiaYoung Adult
Identifiers
PMID: 20141545
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Research group Génétique psychiatrique (4)
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LAYOUNI, S. et al. Dimorphism of TAP-1 gene in Caucasian with juvenile myoclonic epilepsy and in Tunisian with idiopathic generalized epilepsies. In: International Journal of Immunogenetics, 2010, vol. 37, n° 2, p. 117-123. https://archive-ouverte.unige.ch/unige:21078

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Deposited on : 2012-05-23

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