PHÁT HIỆN ĐỘT BIẾN DNA TY THỂ TRONG HỘI CHỨNG MELAS BẰNG KỸ THUẬT PCR-RFLP KẾT HỢP GIẢI TRÌNH TỰ SANGER

Abstract

Aim: MELAS syndrome is a mitochondrial genetic disorder that affects many organs and systems of the body, especially the nervous system and muscles. The disease is caused by mutations in mitochondrial DNA that alter proteins in the mitochondrial electron transport chain. This study aims to apply genetic techniques to detect mitochondrial DNA mutations that cause MELAS syndrome. Materials and methods: Genomic DNA of patients with suspected MELAS syndrome was extracted from peripheral blood samples. PCR-RFLP and Sanger sequencing were performed to identify common mutations. Results: We successfully designed primer pairs for amplification of several regions of mitochondrial DNA associated with MELAS syndrome. The two point mutations m.3243A>G and m.3697G>A were detected in patients with MELAS syndrome, in which m.3243A>G was detectable by PCR-RFLP. Conclusion: The procedure for screening of mitochondrial DNA mutations in MELAS syndrome patients by application of PCR-RFLP and sequencing techniques was completely constituted.