Analysis of the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturna

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Objective: To detect the CHRNA7 gene mutation and polymorphism in South Han Chinese patients with noctal frontal lobe epilepsy (NFLE). Methods: Blood samples were collected from 215 South Han Chinese patients with NFLE and 200 healthy South 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 South Han Chinese patients with NFLE. The CHRNA7 gene is probably not responsible for NFLE in this population.
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