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Dimorphism of TAP-1 gene in Caucasian with juvenile myoclonic epilepsy and in Tunisian with idiopathic generalized epilepsies
|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/*genetics — Adolescent — Adult — African Continental Ancestry Group/genetics — Alleles — Child — Chromosomes, Human, Pair 6/genetics — Epilepsy/ethnology/*genetics — European Continental Ancestry Group/genetics — Female — Gene Frequency — Genotype — Haplotypes — Humans — Male — Myoclonic Epilepsy, Juvenile/ethnology/*genetics — Polymerase Chain Reaction — *Polymorphism, Genetic — Polymorphism, Single-Stranded Conformational — Tunisia — Young Adult|
|Research group||Génétique psychiatrique (4)|
|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. doi: 10.1111/j.1744-313X.2010.00900.x https://archive-ouverte.unige.ch/unige:21078|