[Study on nonsyndromic hereditary hearing impairment mutations of GJB2 gene in Uyghur patients in Xinjiang].
OBJECTIVE
To study mutations in the GJB2 gene in Uyghur patients with nonsyndromic hearing impairment from Xinjiang.


METHODS
Forty-three cases with nonsyndromic hearing impairment and 46 adults with normal hearing were performed mutational analysis of the GJB2 coding region by PCR-direct sequencing.


RESULTS
Six kinds of mutation have been found in the encoding region of hearing impairment group: 380G>A, 109G>A, 235 delC, 233 delC, 7G0>A, 35 delG, of which one 235 delC case is heterozygotes mutation, two 233 delC are homozygotes mutation and two 35 delG are heterozygotes mutation. Six kinds of mutations have been found in the normal hearing group, of which 5 kinds are confirmed common polymorphic mutation.


CONCLUSIONS
The GJB2 gene mutation detection rate in the Uyghur deaf population of Xinjiang Province is lower than other province, which has ethnic and regional characteristics.
Li
Yanhua
Y
Department of Otorhinolaryngology, Chinese Medicine Hospital, Xinjiang Medical University, Uyghur, China. liyanhua1953@126.com
Guan
Hongen
H
Xu
Hongxia
H
Li
Huiwu
H
Li
Hui
H
Wei
Yanhui
Y
Ya
Shengjiang
S
Gong
Jianqi
J
D000328:Adult; D044466:Asian People / Q000235:genetics; D002681:China / Q000453:epidemiology; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D034381:Hearing Loss / Q000453:epidemiology / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D009154:Mutation
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26