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Copyright of Journal of Practical Medicine / Shiyong Yixue Zazhi is the property of Journal of Practical Medicine Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of Practical Medicine / Shiyong Yixue Zazhi is the property of Journal of Practical Medicine Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Shandong Medical Journal is the property of Shandong Medical Health Newspapers and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Practical Pharmacy & Clinical Remedies is the property of Editorial Department of Practical Pharmacy & Clinical Remedies and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Practical Pharmacy & Clinical Remedies is the property of Editorial Department of Practical Pharmacy & Clinical Remedies and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

目的：分析2363例新生儿4个常见遗传性耳聋基因突变情况，为遗传性耳聋的防治提供依据。方法选择出生48～72 h的新生儿2363例，采集其足底血，采用基质辅助激光解吸／离子化飞行时间质谱技术检测GJB2、GJB3、SLC26A4、线粒体12SrRNA4个常见遗传性耳聋基因（共20个位点）的突变情况。结果2363例新生儿中，检出突变基因携带者152例（6．43％），其中GJB2突变71例（3．00％）、SLC26A4突变66例（2．79％）、GJB3突变10例（0．42％）、线粒体12S rRNA突变5例（0．21％）；GJB2、GJB3、SLC26A4突变类型均为杂合，线粒体12S rRNA突变类型均为同质性。结论合肥地区新生儿GJB2基因杂合突变率最高，SLC26A4其次，GJB3和线粒体12S rRNA突变较为少见。 [ABSTRACT FROM AUTHOR]