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[Analysis of the SLC26A4 mutation from 230 deafness patients in Guangxi region].
Liu, M; Xu, L; Tang, F Z; Shi, M; Qu, S H; Liang, J P; Lu, Q T; Chen, R C; Huang, J; Huang, Y Y.
Affiliation
  • Liu M; Department of Otolaryngology,the People's Hospital of Guangxi Zhuang Autonomous Region,530021,China.
  • Xu L; Department of Otolaryngology,the People's Hospital of Guangxi Zhuang Autonomous Region,530021,China.
  • Tang FZ; Department of Otolaryngology,the People's Hospital of Guangxi Zhuang Autonomous Region,530021,China.
  • Shi M; Department of Otolaryngology,the People's Hospital of Guangxi Zhuang Autonomous Region,530021,China.
  • Qu SH; Department of Otolaryngology,the People's Hospital of Guangxi Zhuang Autonomous Region,530021,China.
  • Liang JP; Department of Otolaryngology,the People's Hospital of Guangxi Zhuang Autonomous Region,530021,China.
  • Lu QT; Department of Otolaryngology,the People's Hospital of Guangxi Zhuang Autonomous Region,530021,China.
  • Chen RC; Department of Otolaryngology,the People's Hospital of Guangxi Zhuang Autonomous Region,530021,China.
  • Huang J; Department of Otolaryngology,the People's Hospital of Guangxi Zhuang Autonomous Region,530021,China.
  • Huang YY; Department of Otolaryngology,the People's Hospital of Guangxi Zhuang Autonomous Region,530021,China.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi ; 30(19): 1540-1544, 2016 Oct 05.
Article in Zh | MEDLINE | ID: mdl-29871136
Objective:To investigate the mutation characteristics of SLC26A4 gene from 230 hearing loss patients in Guangxi region.Method:Two hundred thirty patients with hearing loss were enrolled in the study. Eight mutation sites in SLC26A4 gene were tested; the types of gene mutation and the inner ear CT features of the mutationpositive patients were analyzed.Result:Among 230 deafness patients,the total mutation rate of SLC26A4 gene is 2.61%(6/230). The types of gene mutation include SLC26A4 IVS7-2A> G heterozygous in 2 case(0.87%).1226G> A homozygous in 1 cases(0.43%),IVS7-2A>G,IVS11+47T>C and 1548insC mutations in 2 cases(0.87%).Conclusion:The mutation rate of SLC26A4 gene in Guangxi region is lower than the national average level. The main mutation type in Guangxi region is SLC26A4 IVS7 2A>G. In this study, two gene mutations (SLC26A4 IVS11+47T> C and 1548insC) are firstly found, suggesting that some rare mutation types of SLC26A4 may exist in patients living in Guangxi region.
Key words

Full text: 1 Database: MEDLINE Language: Zh Journal: Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi Year: 2016 Type: Article Affiliation country: China

Full text: 1 Database: MEDLINE Language: Zh Journal: Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi Year: 2016 Type: Article Affiliation country: China