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Scientific article
English

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

Published inInternational journal of immunogenetics, vol. 37, no. 2, p. 117-123
Publication date2010
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
Citation (ISO format)
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
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ISSN of the journal1744-3121
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