[GJB6 gene mutation analysis in Chinese nonsyndromic deaf population].
OBJECTIVE
To investigate the contribution of GJB6 gene (encoding connexin 30) mutation in Chinese population with sporadic non-syndromic hearing impairment.


METHODS
Three hundred and seventy-two nonsyndromic hearing impairment patients and 182 normal controls were first tested for GJB6 del(GJB6 > D13S1830) using specific PCR primers. Then PCR was performed with a pair of primer flanking the whole coding sequence of GJB6 gene. Sequencing of GJB6 whole coding sequence PCR products was subsequently applied in all subjects with hearing loss and normal controls.


RESULTS
None of the patients and normal controls carried GJB6 del (GJB6 > D13S1830). Two single base pair changes were detected , one in the patient group and the other in the control group. The mutation found in the patient group was not detected in the control subjects.


CONCLUSIONS
Mutation of GJB6 gene is not frequent in Chinese non-syndromic hearing-loss population. Screening for GJB6 gene can be ranked as unconventional deaf gene test in China temporarily.
Yuan
Yongyi
Y
Department of Otolaryngology-Head and Neck Surgery, Otorhinolaryngol Institute, Genetic Testing Center for Deafness, PLA General Hospital, Beijing, China.
Huang
Deliang
D
Dai
Pu
P
Zhu
Qingwen
Q
Liu
Xin
X
Wang
Guojian
G
Li
Qi
Q
Wu
Bailin
B
D000293:Adolescent; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation
D000075302:Connexin 30; D017630:Connexins; C491020:GJB6 protein, human