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Mitochondrial DNA analyses found five novel mutations in idiopathic epilepsy patients

Journal Mitochondrial DNA Part B. 2019; 
Cuiping You, Rui Tao, Quanping Su, Yucheng Lu, Long Wang, Shu Liu, Lifen Wang, Lijuan Wang, Fuzhong Xue &Fengyuan Che show less
Products/Services Used Details Operation
Gene Synthesis Twenty-two pairs of PCR primers used for amplifying the complete sequences obtained from the published study (Jiang et al. 2014). PCR amplification was conducted in a 50-μL reaction mixture containing 20–40 ng DNA, 25 μL 2x Taq PCR MasterMix (TIANGEN, China), 0.8 μm of each primer. PCR conditions were 94 °C for 5 min and 30 cycles at 94 °C for 50s, 50–60 °C for 1 min, 72 °C for 1–2 min. The amplified PCR products were sent to GenScript Biotech for sequencing. Sequencing was performed on ABI 3730XL automatic sequencer. Get A Quote

摘要

Epilepsy is a common and chronic neurological disease with a high degree of genetic heterogeneity. The etiology and pathogenesis of the disease have not been fully understood. Many studies suggested that there was a reciprocal relationship between mitochondrial dysfunction and epilepsy, but few studies focused on the mitochondrial genome (mtDNA) of the epilepsy patient which was extremely important for the mitochondrial function. In our study, we obtained complete mtDNA sequences of 27 idiopathic epilepsy patients and healthy people, and compared the sequence data with 30,000 GenBank sequences including 277 Han Chinese mtDNA sequences. We analyzed each variant that might be related to disease and examined the s... More

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