A novel mutation of GJB6 in Chinese sporadic non-syndromic hearing impairment
- VernacularTitle:中国散发耳聋患者GJB6基因的突变筛查
- Author:
Dongyi HAN
;
Qingzhong LI
;
Lan LAN
;
Yali ZHAO
;
Hu YUAN
;
Una LI
;
Qiong LIU
;
Qiuju WANG
- Publication Type:Journal Article
- Keywords:
Genes;
Mutation;
Hearing Disorders
- From:
Chinese Archives of Otolaryngology-Head and Neck Surgery
2006;0(10):-
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE To investigate the contribution of the GJB6 gene [encoding connexin 30 (C?30)] mutations in Chinese population with sporadic non-syndromic hearing impairment. METHODS PCR reactions were performed with two pair of primers for the coding sequence of GJB6 gene and for the deletion of GJB6. PCR products bidirectional sequencing was subsequently applied in 214 patients with hearing loss and 86 normal controls. RESULTS A novel heterozygous mutation-233(C→A) was found, which results in amino acid change, A78D. This mutation wasn't detected in the control subjects. The altered valine residue lies within the second conserved transmembrane domain. The large deletion△(GJB6/ D13S1830)] of GJB6 was not found in this group. CONCLUSION The large deletion of GJB6 was not found in the Chinese deafness population. A novel heterozygous mutation of GJB6 was found. These results indicated GJB6 mutations are not a major cause of hearing loss in the Chinese population.
