A Novel Amplification-Refractory Mutation System-PCR Strategy to Screen MT-TL1 Pathogenic Variants in Patient Repositories

Bulduk B. K., Kilic H. B., Bekircan-Kurt C. E., Haliloglu G., ERDEM ÖZDAMAR S., Topaloglu H., ...Daha Fazla

GENETIC TESTING AND MOLECULAR BIOMARKERS, cilt.24, sa.3, ss.165-170, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Sayı: 3
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1089/gtmb.2019.0079
  • Dergi Adı: GENETIC TESTING AND MOLECULAR BIOMARKERS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Agricultural & Environmental Science Database, BIOSIS, Biotechnology Research Abstracts, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.165-170
  • Anahtar Kelimeler: mitochondrial cytopathies, ARMS-PCR, HRM, mtDNA, mt-tRNA mutations, TRANSFER RNALEU(UUR) GENE, MITOCHONDRIAL TRANSCRIPTION TERMINATION, STROKE-LIKE EPISODES, POINT MUTATION, LACTIC-ACIDOSIS, MELAS SUBGROUP, DNA, MYOPATHY, MTDNA, CARDIOMYOPATHY
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Aim: Pathogenic variants within mitochondrial tRNA and rRNA genes negatively affect protein synthesis function and cause oxidative phosphorylation defects. The majority of mitochondrial cytopathies are caused by pathogenic point variants within the mitochondrial tRNA gene for leucine (MT-TL1). This study was designed to evaluate a novel amplification-refractory mutation system (ARMS)-PCR based assay to screen patient samples with a clinical diagnosis of mitochondrial cytopathies.