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Studying mutation in GABRG2 Gene involved in occurrence of grand Mal epilepsy among Iranian patients using PCR-SCCP/HA methodology

Authors: Shiva Raeisi Dehkordi and Ali Mohammad Ahadi

Int J Med Res Health Sci.65-72 | pdf PDF Full Text

Epilepsy is one of the most common complications of the central nervous system with the highest frequency in
human communities following heart failures and brain stoppage. A research conducted on families suffering from
epilepsy revealed both single-gene and multi-factor epilepsy. There are many genes that cause epilepsy. One of the
major causes of epilepsy is mutation of the genes encoding various types of ion channels units. The present research
seeks to study the role of structural mutations in GABRG2 gene in causing epilepsy with positive family background
or lack of any caused for those suffering from epilepsy. Through convenient sampling, the blood samples of 60
patients suffering from tonic-clonic grand mal epilepsy were collected. The type of epilepsy was determined based
on what was in their medical file and record. Then, the full DNA of white globules was extracted using phenolchloroform standard, and using the primers designed for exons 8, 9, and 10 of GABRG2 gene, polymerase chain
reactions (PCR) were carried out using the standard method. PCR products were analyzed using SSCP, Chromas,
BLASTn servers and ClustalW. Pointwise structural mutations were observed in two samples. Both mutations
recognized in this gene are new. In this research, a missense mutation (c.914 > G) was diagnosed in GABRG2 gene
which turned Adenine into Guanine in 914- nucleotide situation. Furthermore, a missense mutation was observed in
the nucleotide situation 1186. This mutation changed thymine to guanine (c.1186T>G) and transformed leucine
amino acid into Valine 396. The present research describes the correlation of GABRG2 gene mutation with IGE.
Generally speaking, based upon the current research and the previous researches conducted by the authors,
GABRG2 gen can be used a diagonal marker for idiopathic epilepsies

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