Assessment of Gene Polymorphism in GABAA1 Receptor among Sudanese Patients with Juvenile Myoclonic Epilepsy (JME)

Sami F. Abdalla, Hanan B. Eltahir, Salah M. El-Magzoub
2021 Journal of Pharmaceutical Research International  
Juvenile myoclonic epilepsy (JME) is an idiopathic generalized epilepsy syndrome (IGE) with a strong genetic contribution. The main characters of JME are generalized convulsive or an absences seizures proceeded by myoclonic jerks. Gene variant of gamma-aminobutyric acid type A inhibitory receptor speculated to underlay JME etiology. Objective: This study aimed to screen for JME based on the International League against Epilepsy Commission on Classification and Terminology diagnostic criteria
more » ... to assess the link of polymorphism in the GABAA receptor gene, GABRA1 to the development of JME in Sudanese patients. Methods: Our epidemiological study enrolled 44 JME patients, only 23 participated in the genetic part and 35 matched healthy controls were also included. Blood genomic DNA was isolated and PCR based- restriction fragment length polymorphism (RFLP) analysis was done. The data obtained were analyzed using computer software SPSS 21rt edition. Results: The frequency of the mutant G allele was found to be 41.5% in patients and 45.5% in the controls. The genotype distribution of A and G alleles among patients were found to be (AA= 39%), (AG=39%) and (GG= 22%) and that of the controls were (AA=40%), (AG=30%) and (GG= 30%). Conclusion: The mutant G allele of the GABAA1 receptor does not affect the development of JME in Sudanese patients but the AG genotype may be a risk factor.
doi:10.9734/jpri/2021/v33i33b31793 fatcat:kkp6qwoqgncnvdbjzxdmoofwme