Point mutation of the mitochondrial genome in Japanese deaf-mutism

Takeshi Ohshima, Takayuki Kudo, Katsuhisa Ikeda

研究成果: Article査読

12 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)329-332
ページ数4
ジャーナルORL
63
6
DOI
出版ステータスPublished - 2001 12 3

ASJC Scopus subject areas

  • Otorhinolaryngology

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