Detection of Genetic Mutations Using Minor Variant Finder Software

Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family

“…Polymerase chain reaction products were directly sequenced using BigDye v3.1 Termination and ABI 3130XL (Applied Biosystems). Heteroplasmy levels were obtained from DNA sequencing analysis using the Minor Variant Finder software (Thermo) [ 7 ]. Those of the proband in the blood, saliva, and urinary sediments were 31.3%, 52.6%, and 73.9%, respectively, while those of the mother were 13.8%, 22.1%, and 29.4%, respectively ( Fig.…”