title: Analysis of common deafness gene mutations in deaf people from unique ethnic groups in Gansu Province, China.
abstract: CONCLUSIONS
  The GJB2 gene mutation characteristic of Dongxiang was the interaction result of ethnic background and geographical environment, and Yugur exhibited the typical founder effect. The SLC26A4 gene mutation characteristic of Dongxiang was related to caucasian backgrounds and selection of purpose exons, i.e. ethnic background and the penetrance of ethnic specificity caused the low mtDNA1555A>G mutation frequency in Dongxiang.
  
  
  OBJECTIVE
  To determine the prevalence of GJB2 and SLC26A4 genes and mtDNA1555A>G mutations and analyze the ethnic specificity in the non-syndromic sensorineural hearing loss (NSHL) of unique ethnic groups in Gansu Province.
  
  
  METHODS
  Peripheral blood samples were obtained from Dongxiang, Yugur, Bonan, and ethnic Han groups with moderately severe to profound NSHL in Gansu Province. Bidirectional sequencing (or enzyme digestion) was applied to identify the sequence variations.
  
  
  RESULTS
  The pathogenic allele frequency of the three gene mutations was different. The frequency of the GJB2 gene among the Dongxiang, Yugur, Bonan, and ethnic Han groups was 9.03%, 12.5%, 5.88%, and 12.17%, respectively. No difference was found between the ethnic groups. The frequencies of the SLC26A4 genes were 3.23%, 8.33%, 0%, and 9.81%, respectively. The mutation frequency of mtDNA1555A>G was 0%, 0%, 0%, and 6.03%, respectively. No difference was found between the ethnic groups, except for the Dongxiang and ethnic Han groups, both in SLC26A4 gene and mtDNA1555A>G.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Second Hospital of Lanzhou University , Lanzhou.
authors.forename: Bai-Cheng
authors.initials: BC
authors.lastname: Xu
authors.forename: Pan-Pan
authors.initials: PP
authors.lastname: Bian
authors.forename: Xiao-Wen
authors.initials: XW
authors.lastname: Liu
authors.forename: Yi-Ming
authors.initials: YM
authors.lastname: Zhu
authors.forename: Xiao-Long
authors.initials: XL
authors.lastname: Yang
authors.forename: Jian-Li
authors.initials: JL
authors.lastname: Ma
authors.forename: Xing-Jian
authors.initials: XJ
authors.lastname: Chen
authors.forename: Yan-Li
authors.initials: YL
authors.lastname: Wang
authors.forename: Yu-Fen
authors.initials: YF
authors.lastname: Guo
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002681:China / Q000453:epidemiology; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000737:chemistry*; D003638:Deafness / Q000208:ethnology / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D000076988:Sulfate Transporters; D055815:Young Adult
chemical_list: D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26
keywords: Bonan; Dongxiang; GJB2; SLC26A4; Yugur; mtDNA1555A>G; mutation