Objective:To detect the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal lobe epilepsy(NFLE).Methods:Blood samples were collected from 215 Southern Han Chinese patients wit...Objective:To detect the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal lobe epilepsy(NFLE).Methods:Blood samples were collected from 215 Southern Han Chinese patients with NFLE and 200 healthy Southern Han Chinese control subjects.Genomic DNA was extracted,and CHRNA7 whole genome exons were amplified by the polymerase chain reaction and subjected to Sanger sequencing.Results:No CHRNA7 gene mutation was detected in all of the NFLE patients.However,five single nucleotide polymorphisms(SNPs)in sporadic cases were found,located in exons 5,6.and 7 of the CHRNA7 gene.Among them,c.690G>A and c.698A>G are known SNPs,while c.370G>A,c.654C>T,and c.497-498delTG were newly discovered SNPs.These SNPs were also found in some of the healthy controls.Conclusions:No CHRNA7 gene mutation was identified in Southern Han Chinese patients with NFLE.The CHRNA7 gene is probably not responsible for NFLE in this population.展开更多
基金supported by 2010 National Nature Science Foundation of China General Program(Program NO.8107I046)2012 Guangdong Provincial Science and Technology Program of China(Program NO.2012B032000009)2013 Guangdong Provincial Science and Technology Program of China(Program NO.2013B022000004)
文摘Objective:To detect the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal lobe epilepsy(NFLE).Methods:Blood samples were collected from 215 Southern Han Chinese patients with NFLE and 200 healthy Southern Han Chinese control subjects.Genomic DNA was extracted,and CHRNA7 whole genome exons were amplified by the polymerase chain reaction and subjected to Sanger sequencing.Results:No CHRNA7 gene mutation was detected in all of the NFLE patients.However,five single nucleotide polymorphisms(SNPs)in sporadic cases were found,located in exons 5,6.and 7 of the CHRNA7 gene.Among them,c.690G>A and c.698A>G are known SNPs,while c.370G>A,c.654C>T,and c.497-498delTG were newly discovered SNPs.These SNPs were also found in some of the healthy controls.Conclusions:No CHRNA7 gene mutation was identified in Southern Han Chinese patients with NFLE.The CHRNA7 gene is probably not responsible for NFLE in this population.
