title: Point mutation of the mitochondrial genome in Japanese deaf-mutism.
abstract: Recently, a number of hearing-impaired individuals with mitochondrial genome (mtDNA) mutations have been reported, and it is well known that the mtDNA mutations are responsible for the hearing disorder. We have demonstrated that the mtDNA mutation A3243G is responsible for adult-onset sensorineural hearing loss (SNHL). At the same time, a case in which SNHL occurred within 2 years from birth has been reported. The mtDNA mutations may be possible causes of prelingual deafness. In the present study, the mtDNA fragments from the deaf-mute persons were amplified by polymerase chain reaction, followed by a restriction enzyme fragment length polymorphism method and direct sequencing. We failed to find A3243G involvement in 46 deaf-mutes but found that 8.7% of them had A1555G which is an important cause of prelingual deafness, no less than autosomal recessive inheritance, in Japan.
authors.affiliation: Department of Otolaryngology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan. oshima@orl.med.tohoku.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Oshima
authors.forename: T
authors.initials: T
authors.lastname: Kudo
authors.forename: K
authors.initials: K
authors.lastname: Ikeda
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005260:Female; D015894:Genome, Human; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping; D017422:Sequence Analysis, DNA