Rapid mass screening method and counseling for the 1555A→G mitochondrial mutation

Journal of Human Genetics

Volumn 44, Issue 5, 1999, Pages 304-307

  Usami, Shin Ichi ^a,c   Abe, Satoko ^a   Shinkawa, Hideichi ^a   Inoue, Yoko ^b   Yamaguchi, Toshikazu ^b  

^a HIROSAKI UNIVERSITY   (Japan)

^b BioMedical Laboratories Inc   (Japan)

^c SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

1555A G mutation; Aminoglycoside antibiotics; Hearing loss; MASA method; Mitochondria

Indexed keywords

AMINOGLYCOSIDE ANTIBIOTIC AGENT;

ARTICLE; GENE AMPLIFICATION; HUMAN; JAPAN; MASS SCREENING; MITOCHONDRION; POINT MUTATION;

AMINOGLYCOSIDES; ANTI-BACTERIAL AGENTS; BASE SEQUENCE; DNA, MITOCHONDRIAL; GENETIC COUNSELING; GENETIC SCREENING; HEARING LOSS, SENSORINEURAL; HUMANS; JAPAN; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RISK FACTORS;

TETRAGASTRIS BALSAMIFERA;

EID: 0032833546     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050165     Document Type: Article

References (14)

1. Abe S, Usami S, Shinkawa H, Weston MD, Overbeck LD, Hoover DM, Kenyon JB, Horai S, Kimberling WJ (1998) Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation. Eur J Hum Genet 6:563-564
2. Estivill X, Govea N. Barceló A, Perelló E, Badenas C, Romero E, Moral L, Scozzari R, D'Urbano L, Zeviani M, Torroni A (1998) Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am J Hum Genet 62:27-35
3. Fischel-Ghodsian N, Prezant TR, Chaltraw WE, Wendt KA, Nelson RA, Arnos KS, Falk RE (1997) Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity. Am J Otolaryngol 18:173-178
4. Fu DM (1985) Survey of 1583 deaf mutes. Qinghai Med J 1:22-23
5. Hayashi N, Arakawa H, Nagase H, Yanagisawa A, Kato Y, Ohta H, Takano S, Ogawa M, Nakamura Y (1994) Genetic diagnosis identifies occult lymph node metastases undetecable by the histopathological method. Cancer Res 54:3853-3856
6. Hutchin T, Haworth I, Higashi K, Fischel-Ghodsian N, Stoneking M, Saha N, Arnos C, Cortopassi G (1993) A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nucleic Acids Res 21:4174-4179
7. Hutchin TP, Cortopassi GA (1997) Multiple origins of a mitochondrial mutation conferring deafness. Genetics 145:771-776
8. Lu YF (1987) Cause of 611 deaf mutes in schools for deaf children in Shanghai. Shanghai Med J 10:159
9. Matthijs G, Claes S, Longo-Mbenza B, Cassiman JJ (1996) Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree. Eur J Hum Genet 4:46-51
10. Pandya A, Xia X, Radnaabazar J, Batsuuri J, Dangaansuren B, Fischel-Ghodsian N, Nance WE (1997) Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. J Med Genet 34:169-172
11. Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, Arnos KS, Cortopassi GA, Jaber L, Rotter JI, Shohat M, Fischel-Ghodsian N (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 4:289-294
12. Takeda S, Ichii S. Nakamura Y (1993) Detection of K-ras mutation in sputum by mutant-allele-specific amplification (MASA). Hum Mutat 2:112-117
13. Usami S, Abe S, Shinkawa S, Moeller B, Kenyon JB, Kimberling WJ (1997) Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation. Laryngoscope 107:483-490
14. Usami S, Abe S, Tono T, Komune S, Kimberling WJ, Shinkawa H (1998) Isepamicin sulfate-induced sensorineural hearing loss in patients with the 1555A→G mitochondrial mutation. ORL 60:164-169