Comparative study of mutation spectrums ofMT-RNR1m.1555A〉G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han  

作　　者：Li Qian Ji Yubin Han Bing Zong Liang Lan Lan Zhao Yali Wang Hongyang Wang Dayong Wang Qiuju 

机构地区：[1]Department of Otolaryngology-Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China [2]Department of Otolaryngology, Secondary Artillery General Hospital of Chinese People's Liberation Army, Beijing 100088, China

出　　处：《Chinese Medical Journal》2014年第18期3233-3237,共5页中华医学杂志（英文版）

基　　金：This work was supported by grants from the National Key Basic Research Program of China （No. 2014CB943001）, the National Natural Science Foundation of China, Major Project （No. 81120108009）, the Key Medical Technology Research Program of China People＇s Liberation Army （No. BWS11J026）, and the Nursery Fotmdation of China People＇s Liberation Army （No. 14KMZ04）.

摘　　要：Background The mutation frequencies of three common deafness genes （MT-RNR1 m.1555A〉G,GJB2,and SLC26A4） among patients with nonsyndromic sensorineural hearing loss （NSHL） were different in previous studies.Inconsistent selection criteria for recruiting patients could have led to differences in estimating the frequencies of genetic mutations thus resulting in different mutation frequencies among these studies.The aim of this study was to reveal the differences in the mutation spectrums of the three common genes between familial and sporadic Chinese Han patients.Methods Totally,301 familial probands and 703 sporadic patients with NSHL were enrolled in this study.Three genes,MT-RNR1 m.1555A〉G,GJB2,and SLC26A4,were screened for mutation in our study cohort.A X2 test was performed to compare the mutation frequencies between the two groups.Results The study showed that the disease-causing mutation frequencies of MT-RNR1 m.1555A〉G,GJB2,and SLC26A4 were 12.29%,14.62%,and 18.27% in familial probands and 3.56%,18.63%,and 18.92% in sporadic patients,respectively.The mutation frequency of MT-RNR1 m.1555A〉G in familial probands was significantly higher than in sporadic patients （X2 test,P=0.000）,while there were no significant differences in the mutation frequencies of GJB2 and SLC26A4 between the familial and sporadic groups （X2 test,P 〉0.05）.Conclusions It is necessary to reveal the differences in gene mutation frequencies between patients of different sources or characteristics by comparative studies in order to avoid selection bias.The mutations of GJB2,SLC26A4,and MTRNR1 m.1555A〉G are the most important etiological factors in Chinese Han patients,among which SLC26A4 might be the most frequent.Background The mutation frequencies of three common deafness genes （MT-RNR1 m.1555A〉G,GJB2,and SLC26A4） among patients with nonsyndromic sensorineural hearing loss （NSHL） were different in previous studies.Inconsistent selection criteria for recruiting patients could have led to differences in estimating the frequencies of genetic mutations thus resulting in different mutation frequencies among these studies.The aim of this study was to reveal the differences in the mutation spectrums of the three common genes between familial and sporadic Chinese Han patients.Methods Totally,301 familial probands and 703 sporadic patients with NSHL were enrolled in this study.Three genes,MT-RNR1 m.1555A〉G,GJB2,and SLC26A4,were screened for mutation in our study cohort.A X2 test was performed to compare the mutation frequencies between the two groups.Results The study showed that the disease-causing mutation frequencies of MT-RNR1 m.1555A〉G,GJB2,and SLC26A4 were 12.29%,14.62%,and 18.27% in familial probands and 3.56%,18.63%,and 18.92% in sporadic patients,respectively.The mutation frequency of MT-RNR1 m.1555A〉G in familial probands was significantly higher than in sporadic patients （X2 test,P=0.000）,while there were no significant differences in the mutation frequencies of GJB2 and SLC26A4 between the familial and sporadic groups （X2 test,P 〉0.05）.Conclusions It is necessary to reveal the differences in gene mutation frequencies between patients of different sources or characteristics by comparative studies in order to avoid selection bias.The mutations of GJB2,SLC26A4,and MTRNR1 m.1555A〉G are the most important etiological factors in Chinese Han patients,among which SLC26A4 might be the most frequent.

关 键 词：hearing loss SENSORINEURAL genetic testing MT-RNR1 m.1555A〉G GJB2 SLC26A4 

分 类 号：Q347[生物学—遗传学] S522[农业科学—作物学]