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J Med Genet 2000;37:38-40 doi:10.1136/jmg.37.1.38
  • Original article

Prevalence of mitochondrial gene mutations among hearing impaired patients

  1. Shin-ichi Usamia,
  2. Satoko Abea,
  3. Jiro Akitaa,
  4. Atsushi Nambaa,
  5. Hideichi Shinkawaa,
  6. Masanori Ishiib,
  7. Satoshi Iwasakic,
  8. Tomoyuki Hoshinoc,
  9. Juichi Itod,
  10. Katsumi Doie,
  11. Takeshi Kuboe,
  12. Takashi Nakagawaf,
  13. Sohtaro Komiyamaf,
  14. Tetsuya Tonog,
  15. Shizuo Komuneg
  1. aDepartment of Otorhinolaryngology, Hirosaki University School of Medicine, 5 Zaifu-cho, Hirosaki 036-8562, Japan, bDepartment of Otorhinolaryngology, Tokyo Kosei Nenkin Hospital, Tokyo 162, Japan, cDepartment of Otorhinolaryngology, Hamamatsu University School of Medicine, Hamamatsu 431-31, Japan, dDepartment of Otolaryngology, Otsu Red Cross Hospital, Otsu 520, Japan, eDepartment of Otolaryngology, Osaka University Faculty of Medicine, Suita 565-0871, Japan, fDepartment of Otorhinolaryngology, Faculty of Medicine, Kyushu University, Fukuoka 812-8582, Japan, gDepartment of Otorhinolaryngology, Miyazaki Medical College, Miyazaki 889-16, Japan
  1. Professor Usami, Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan
  • Revised 16 August 1999
  • Accepted 27 August 1999

Abstract

The frequency of three mitochondrial point mutations, 1555A→G, 3243A→G, and 7445A→G, known to be associated with hearing impairment, was examined using restriction fragment length polymorphism (RFLP) analysis in two Japanese groups: (1) 319 unrelated SNHL outpatients (including 21 with aminoglycoside antibiotic injection history), and (2) 140 cochlear implantation patients (including 22 with aminoglycoside induced hearing loss). Approximately 3% of the outpatients and 10% of the cochlear implantation patients had the 1555A→G mutation. The frequency was higher in the patients with a history of aminoglycoside injection (outpatient group 33%, cochlear implantation group 59%). One outpatient (0.314%) had the 3243A→G mutation, but no outpatients had the 7445A→G mutation and neither were found in the cochlear implantation group. The significance of the 1555A→G mutation, the most prevalent mitochondrial mutation found in this study of a hearing impaired population in Japan, among subjects with specific backgrounds, such as aminoglycoside induced hearing loss, is evident.

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