한국인 비증후군성 감각신경성 난청 환자에서 미토콘드리아 유전자 점 돌연변이의 빈도

임문정; 정한신; 오승하; 장선오; 김종선

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자료유형: 학술저널

저자정보: 임문정 정한신 오승하 장선오 김종선

저널정보: 대한이비인후과학회 대한이비인후-두경부외과학회지 대한이비인후과학회지 두경부외과학 제47권 제3호

발행연도: 2004.1

수록면: 206 - 211 (6page)

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Background and Objectives：Mitochondrial point mutations have been shown to be responsible for syndromic and non-syndromic hearing impairment. Among these mitochondrial point mutations, 1555 A→G, 3243 A→G, and 7445 A→G mutations are detected more frequently in sensorineural hearing loss (SNHL)of these thre mitochondrial mutations among the non-syndromic SNHL population in Korea. Subjects and Method：To determine the frequency of thre mitochondrial point mutation 1555 A→G, 3243 A→G, and 7445 A→G, we examined 129 unrelated SNHL outpatients using restriction fragment length polymorphism. And to confirm these point mutations, we analyzed mitochondrial DNA with point mutations by direct sequence analysis. Results：The frequency of mitochondrial gene mutation in the unrelated sensorineural hearing impaired patients in the Korean population was 1555 A→G：2.3% (3/129), 3243 A→G：0.7% (1/129), 7445 A→G：0% (0/129). Conclusion：These results regarding Koreans are similar to those of Japanese. Each member in a family with 1555 A→G mitochondrial point mutation had variable hearing levels (different phenotype) in spite of the same mitochondrial point mutation. The pathogenesis of these mitochondrial point mutations in hearing should be further of these point mutations.

#감각신경성 난청·미토콘드리아·점 돌연변이. #Sensorineural hearing loss· Mitochondria· Point mutation.

참고문헌 (16)

참고문헌 신청

/ 1989 / Unique inheritance of streptomycin-induced deafness 35 : 433 ~ 436

/ 1990 / A mutation in the tRNALeu (UUR) geneassociated with the MELAS subgroup of mitochondrial encephalomyopathies. 348 : 651 ~ 653

/ 1992 / Mutation in mitochondrialtRNALeu (UUR) gene in a large pedigree with maternally transmittedtype II diabetes mellitus and deafness. 1 : 368 ~ 371

/ 1993 / Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness 4 : 289 ~ 294

/ 1993 / Mitochondrial ribosomalRNA gene mutation in a patient with sporadic aminoglycosideototoxicity 14 : 399 ~ 403

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