[The roles of connexin genes in sporadic hearing loss population].
OBJECTIVE
To investigate the roles of connexin genes in Chinese population.


METHODS
Peripheral blood samples were collected from 214 patients with hearing loss, 160 with sensorineural hearing loss (66 with prelingual hearing loss and 94 with postlingual hearing loss), 32 with auditory neuropathy, and 22 with enlarged vestibular aqueduct syndrome (EVAS), 110 males and 104 females, all from 14 provinces north of the Yangtze River, all of Han nationality, and 86 normal controls. PCR and sequencing of the PCR products were used to screen 3 connexin genes: GJB2, GJB3, and GJB6.


RESULTS
The frequency of connexin gene sequence variant was 73.36% (157/214), higher than that of the controls (60.05%, 42/86). 34 of the 157 patients carried pathogenic mutations (15.89%). The frequency of 235delC deletion was 16.67% among patients with prelingual hearing loss (11/66). Six known polymorphisms and six new mutations were found in these patients.


CONCLUSIONS
The pathogenic mutations of the patients with hearing loss are distributed quite differently between the patients and normal persons. The genetic variants GJB2 235delG and GJB6-Delta (GJB6/D13S1830) were not common. Relevant information is helpful in early diagnosis of hearing loss in Chinese population.
Li
Qing-zhong
QZ
Department of Otolaryngology-Head and Neck Surgery, General Hospital of Chinese People's Liberation Army, Beijing 100853, China.
Wang
Qiu-ju
QJ
Chi
Fang-lu
FL
Li
Li-na
LN
Zhao
Ya-li
YL
Yuan
Hu
H
Han
Dong-yi
DY
D002681:China; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics* / Q000502:physiology; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D034381:Hearing Loss / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D009154:Mutation
D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26; C068044:GJB3 protein, human