Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children |
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Authors: | Haider MZ Habeeb Y Al-Nakkas E Al-Anzi H Zaki M Al-Tawari A Al-Bloushi M |
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Institution: | (1) Departments of Pediatrics, Faculty of Medicine, Kuwait University, PO Box 24923, Safat, 13110, Kuwait;(2) Department of Pediatrics, Mubarak Al-Kabeer Hospital, Farwania, Kuwait;(3) Department of Pediatrics, Farwania Hospital, Farwania, Kuwait;(4) Pediatric Neurology Unit, Al-Sabah Hospital, Sulaibikhat, Kuwait |
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Abstract: | Summary Idiopathic generalized epilepsies (IGEs) are the most common types of epilepsy in childhood and adolescence. A variety of
data suggest that IGEs have a predominant genetic etiology. Recently, a number of gene mutations have been found to be associated
with various types of epilepsy in mainly the Caucasian populations. The objective of this study was to investigate the association
of three different candidate genes with IGE in Kuwaiti Arab children. This study includes 123 Kuwaiti patients with a confirmed
diagnosis of epilepsy. Most of the patients have had a diagnostic EEG with generalized spike-wave discharges (GSWs). All patients
were evaluated by using a validated seizure questionnaire. The clinical type of epilepsy was determined by a trained neurologist/pediatrician.
The study also include 100 controls, the control subjects were children which did not have any history of neurological disorders.
Blood samples were collected from all patients and control subjects after taking informed consent. DNA was isolated and analyzed
by molecular methods. A FokI polymorphism in neuronal nicotinic acetylcholine receptor alpha-4 subunit (CHRNA4) gene was detected by PCR-RFLP method.
A missense mutation (Ser248Phe) in CHRNA4 gene was analyzed by PCR-RFLP using HpaII. A C121W mutation in sodium-channel beta-1 subunit (SCN1B) gene was screened by a PCR-RFLP method using HinPI. A 2-bp deletion in Cystatin B gene was detected by PCR-RFLP using XcmI. The incidence of three FokI polymorphism genotypes in Kuwaiti IGE patients was 1,1 (85%), 1,2 (14%) and 2,2 (1%) respectively. The missense mutation
Ser248Phe of CHRNA4 gene was not detected at all in Kuwaiti IGE patients. The C387G transversion resulting in C121W change
in third exon of the SCN1B gene was detected in 3/123 patients (2%). The patients carrying this mutation also exhibited febrile
seizures. The incidence of 2 bp deletion in the cystatin B gene was found to be 4% (5/123 IGE patients). The data obtained
from molecular analysis show a lack of association between three candidate genes and clinical expression of IGE in Kuwaiti
Arab children. This is completely different from the findings reported from Caucasian populations of France, Australia and
USA in which case a strong association has been reported between IGE and these genes.
To whom corresspondence should be addressed. Tel: +965-5319486; Fax: +965-5338940; E-mail: haider@hsc.edu.kw |
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Keywords: | epilepsy mutation PCR ion channel gene Kuwait |
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