title: [Sequence analysis of mtDNA 12S rRNA, tRNA(Leu(UUR)),tRNA(Ser(UCN))and 16S rRNA gene of 12 nonsyndromic inherited deafness pedigrees].
abstract: OBJECTIVE
  To detect the relationship of mtDNA mutation with inherited deafness and the reason for pedigree's hypersensitivity to ototoxicity of aminoglycoside antibiotics(AmAn).
  
  
  METHODS
  Pedigree investigations were conducted. The blood samples were obtained from 12 pedigrees, and DNA was extracted from the isolated leukocytes. After that, mtDNA fragments were amplified by PCR. The 1555(G), 3243(G) and 7445(G) mutations were detected by Alw 26 I, Apa I and Xba I restriction endonuclease digestion respectively, and then sequencing of 12S rRNA, tRNA(Leu(UUR)), tRNA(Ser(UCN))and 16S rRNA gene was performed.
  
  
  RESULTS
  Restriction endonuclease digestion and sequence analysis showed that all the pedigrees carried mtDNA mutation, among them, 10 pedigrees carried 1555(G) mutation; 2 pedigrees, 7445(G) mutation; no pedigree was found to harbor the 3243(G) mutation. Sequence analysis of 16S rRNA gene showed that the mutations are 2230(G), 2230(AG), 2243(AG), 2230(AA).
  
  
  CONCLUSIONS
  The pedigrees that carried 1555(G) or 7445(G) mutation showed hereditary or congenital hearing loss. The 1555(G) or 7445(G) mutation in association with 16S rRNA gene mutation led to pedigree's hypersensitivity to AmAn ototoxicity.
authors.affiliation: Department of Otorhinolaryngology, General Hospital of PLA, Beijing, 100853 P.R. China. hdy301@sohu.com
authors.forename: W
authors.initials: W
authors.lastname: Li
authors.forename: D
authors.initials: D
authors.lastname: Han
authors.forename: H
authors.initials: H
authors.lastname: Yuan
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.forename: J
authors.initials: J
authors.lastname: Cao
authors.forename: W
authors.initials: W
authors.lastname: Yang
authors.forename: S
authors.initials: S
authors.lastname: Jiang
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D004262:DNA Restriction Enzymes / Q000378:metabolism; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D003638:Deafness / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012335:RNA, Ribosomal / Q000235:genetics; D012336:RNA, Ribosomal, 16S / Q000235:genetics; D012362:RNA, Transfer, Ser / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D012335:RNA, Ribosomal; D012336:RNA, Ribosomal, 16S; D012362:RNA, Transfer, Ser; C075526:RNA, ribosomal, 12S; D004262:DNA Restriction Enzymes