title: [Common gene mutations study in Uyghur population with deafness in Kashgar region of Xinjiang].
abstract: OBJECTIVE
  To investigate the frequency of the mutations in Uyghur nonsyndromic deafness groups in Kashgar region of Xinjiang province by means of screening the common mutations of known deafness genes in China.
  
  
  METHODS
  One hundred and seventy-four Uyghur patients with hearing loss were involved in this study. Questionnaire survey was conducted and peripheral blood samples were collected for polymerase chain reaction. Screening was performed for 35delG, 176-191del16, 235delC, 299-300delAT, 1555A > G, 1494C > T, 2168A > G and IVS7-2A > G. DNA sequence analysis was performed for the samples with absent signals at some loci. SPSS 17.0 software was used to analyze the data.
  
  
  RESULTS
  Mutation of GJB2 was the most common among the three known deafness genes. 187delG was found for the first time in Uyghur groups with hearing loss and was a new pathological mutation of GJB2. The mutation rate of SLC26A4 was low in the experimental group with no significant difference when compared with the control group. The mtDNA 12S rRNA mutation rate in the deaf group was low but not detected in the control group. In addition, mutations were not detected in 17 cases among the 20 patients with positive family history.
  
  
  CONCLUSIONS
  The mutation rate and dominant mutation of Uyghur ethnic nonsyndromic deaf groups have their own characteristics, it is necessary to conduct a sequence analysis and a stemma studying for an aim of perfecting the mutation spectrum of Uyghur deafness gene.
authors.affiliation: Department of Otorhinolaryngology, First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Chen
authors.forename: Mayila
authors.initials: M
authors.lastname: Tudi
authors.forename: Hong-li
authors.initials: HL
authors.lastname: Lu
authors.forename: Di
authors.initials: D
authors.lastname: Jiang
authors.forename: Juan
authors.initials: J
authors.lastname: Zhao
authors.forename: Bin
authors.initials: B
authors.lastname: Hu
authors.forename: Pilidong
authors.initials: P
authors.lastname: Kuyaxi
authors.forename: Hua
authors.initials: H
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D003638:Deafness / Q000208:ethnology* / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D009154:Mutation; D012335:RNA, Ribosomal / Q000235:genetics; D000076988:Sulfate Transporters; D055815:Young Adult
chemical_list: D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26