刘兴梅,杨可婕,徐筱婧,余姝妮,王幼勤,张华,武红权
LIU Xingmei,YANG Kejie,XU Xiaojing,YU Shuni,WANG Youqin,ZHANG Hua,WU Hongquan

• 1:贵州省人民医院检验科
• 2:贵州省人民医院听力康复中心

摘要(Abstract)：

目的:探讨贵州籍遗传性耳聋基因突变类型及分布情况。方法:选择听力门诊进行听力测试的贵州籍受检者285例,采用耳聋基因芯片技术分别检测4个基因9个突变位点,分别为GJB2(35del G、176del16、235del C、299del A)、GJB3(538C> T)、SLC26A4 (IVS7-2A> G、2168A> G)以及线粒体DNA12S rRNA (1555A> G、1494C> T),分析耳聋患者的突变基因型以及等位基因突变类型的分布频率。结果:285例受检者中,经基因检测确诊耳聋的患者78例,总检出率27. 37%;共检出9种耳聋基因突变基因型,按分布频率大小前4种依次为SLC26A4 IVS7-2A> G杂合突变(21例,26. 92%)、GJB2 235del C杂合突变(19例,24. 36%)、GJB2 235del C纯合突变(13例,16. 67%)和SLC26A4 IVS7-2A> G纯合突变6例(7. 69%);共检出等位基因突变类型6种,前4种依次为GJB2 235del C(48. 04%)、SLC26A4 IVS7-2 A> G(33. 33%)、GJB2 299del A(8. 82%)和线粒体DNA12S rRNA1555A> G(7. 84%)。结论:贵州籍遗传性耳聋的基因突变类型以GJB2 235del C突变最常见。
Objective: To investigate the type and distribution of genetic deafness mutation in guizhou province. Methods: From October 2008 to April 2014,285 cases that were native patients in Guizhou with the hearing test were chosen to be detected on four genes and nine mutation sites respectively by taking the deafness gene chip technology,they are GJB2( 35 delG,176 del16,235 delC,299 delA),GJB3( 538 C > T),Slc26 A4( IVS7-2 A > G,2168 A > G) and mitochondrial DNA12 S rRNA( 1555 A >G、1494 C > T). The distribution frequency of the mutated gene and allele mutation in deaf patients was analyzed. Results: 78 individuals of 285 cases were diagnosed deafness by Genetic test including 9 deafness mutant genotype and 6 Allele mutation and the total detection rate was 27. 37%. The first four mutations of 9 deafness mutant genotype were aligned from high to low frequency as follows: 21 cases( 26. 92%) were at presence of the heterozygous mutation of SLC26 A4 IVS7-2 A > G,19 cases( 24. 36%) were the heterozygous mutation of GJB2 235 delC,13 cases( 16. 67%) were the homozygous mutation of GJB2 235 delC,6 cases( 7. 69%) were the homozygous mutation of SLC26 A4 IVS7-2 A > G. At the same time,the first four high frequency of 6 allelic gene mutations were GJB2 235 delC( 48. 04%),SLC26 A4 IVS7-2 A > G( 33. 33%),GJB2 299 delA( 8. 82%) and mt DNA12 SrRNA1555 A > G( 7. 84%) respectively. Conclusion: Spectrum of deafness in Guizhou Province is similar to those of other domestic regions and GJB2 235 delC is the most common mutation. The results of this study provide valuable information for prevention and control of hereditary deafness in Guizhou region.

关键词(KeyWords)： 听觉丧失,感音神经性;基因;突变;芯片分析技术;贵州
hearing loss,sensorineural;gene;mutation;gene chip;Guizhou

Abstract:

Keywords:

基金项目(Foundation): 贵州省卫生计生委科学基金项目(gzwkj2014-2-134)

作者(Author): 刘兴梅,杨可婕,徐筱婧,余姝妮,王幼勤,张华,武红权
LIU Xingmei,YANG Kejie,XU Xiaojing,YU Shuni,WANG Youqin,ZHANG Hua,WU Hongquan

DOI: 10.19367/j.cnki.1000-2707.2018.09.006

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