Analysis of GJB2 gene and mitochondrial DNA A1555G mutations in 16 families with non-syndromic hearing loss
WANG Wei, CHENG Hong-bo, YANG Nian, SHI Yi-chao, LIU Jin-zhi, LI Qin, YANG Shen-min, SHEN Li-yan, LIU Min-juan, CHEN Ying, LI Hong
Published 2012-07-10
Cite as Chin J Med Genet, 2012,29(04): 388-392. DOI: 10.3760/cma.j.issn.1003-9406.2012.04.003
Abstract
Objective To screen for genetic mutations in families featuring non-syndromic hearing loss.Methods Sixteen families with non-syndromic hearing loss were interviewed to identify medical histories by a questionnaire.Audiological and neurological examinations were conducted for all families.Coding regions of GJB2 and 12S rRNA genes were amplified and sequenced.Results Of the 17 patients with sensorineural hearing loss,3 were homozygous mutation for GJB2 235 delC, 1 was 235 delC heterozygous mutation,1 was 235 delC+299_300 delAT compound heterozygous mutation,and 6 were 79 G＞A+341G＞A heterozygosis in cis mutation.No 1555A＞G mutation of mitochondrial DNA (mtDNA) was found in the 16 families.Conclusion The incidence of mtDNA 12S rRNA 1555A＞G mutation in Jiangsu province may be lower than the average across China.Mutations of GJB2 genes may account for as much as 64.7％ of non-syndromic hearing loss in this study. Screening for such mutations and genetic counseling may play an important role in the prevention of hereditary hearing loss.
Key words:
Non-syndromic hearing loss; GJB2 gene; Mitochondrial DNA; 12S rRNA 1555A＞G
Contributor Information
WANG Wei
Center for Reproduction and Genetics, Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, Jiangsu 215002, P.R. China
CHENG Hong-bo
Center for Reproduction and Genetics, Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, Jiangsu 215002, P.R. China
YANG Nian
Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong 276000, P.R. China
SHI Yi-chao
Center for Reproduction and Genetics, Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, Jiangsu 215002, P.R. China
LIU Jin-zhi
Department of Otorhinolaryngology, Linyi People 's Hospital, Linyi, Shandong 276003,P.R. China
LI Qin
Department of Otorhinolaryngology, Linyi People 's Hospital, Linyi, Shandong 276003,P.R. China
YANG Shen-min
Center for Reproduction and Genetics, Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, Jiangsu 215002, P.R. China
SHEN Li-yan
Center for Reproduction and Genetics, Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, Jiangsu 215002, P.R. China
LIU Min-juan
Center for Reproduction and Genetics, Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, Jiangsu 215002, P.R. China
CHEN Ying
Center for Reproduction and Genetics, Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, Jiangsu 215002, P.R. China
LI Hong
Center for Reproduction and Genetics, Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, Jiangsu 215002, P.R. China
