GJB2、SLC26A4基因致病性突变与内耳CT表型关系的研究

发布时间：2018-03-20 02:05

本文选题：感音神经性耳聋　切入点：GJB基因　出处：《中华耳科学杂志》2014年01期 　论文类型：期刊论文

【摘要】：目的研究感音神经耳聋GJB2、SLC26A4基因致病性突变与内耳CT表型之间的关系,探讨这两种基因检测在诊断感音神经性耳聋患者是否存在内耳畸形方面的作用。方法按DNA测序的方法检测2686例感音神经性耳聋患者GJB2、SLC26A4基因致病性突变情况,以Sennaroglu分类为标准统计以上患者内耳CT表型情况,分析GJB2、SLC26A4基因型与CT表型之间的关系。结果 1、2686例患者中共检出GJB2基因致病性突变429例(双等位基因纯合突变220例、复合杂合突变207例、单等位基因显性突变2例),共检出SLC26A4基因致病性突变596例(双等位基因纯合突变169例、复合杂合突变427例)。2、2686例患者中内耳畸形873例(Mondini畸形371例、单纯大前庭水管338例、其它164例);内耳CT正常1813例。3、GJB2基因致病性突变99.30%(426/429)在内耳CT正常组中检出,SLC26A4基因致病性突变100%(596/596)在前庭水管扩大相关内耳畸形中检出。结论 GJB2基因致病性突变与内耳正常CT表型密切相关;SLC26A4基因致病性突变与前庭水管扩大相关内耳畸形密切相关。
[Abstract]:Objective to study the relationship between the pathogenicity mutation of GJB _ 2 and SLC26A4 gene and the CT phenotype of inner ear in sensorineural deafness. To investigate the role of these two gene tests in the diagnosis of inner ear deformity in patients with sensorineural hearing loss. Methods the pathogenicity of GJB2 SLC26A4 gene in 2 686 patients with sensorineural hearing loss was detected by DNA sequencing. According to the classification of Sennaroglu, the CT phenotypes of the inner ear of the above patients were analyzed, and the relationship between the genotypes of GJB2OSLC26A4 and the CT phenotypes was analyzed. Results (1) A total of 429 cases of pathogenicity mutations of GJB2 gene (220 cases of homozygous mutations of double alleles) were detected in 2 686 patients. There were 207 cases of complex heterozygosity mutation and 2 cases of single allele dominant mutation. 596 cases of pathogenicity mutation of SLC26A4 gene were detected (169 cases of double allele homozygous mutation, 427 cases of compound heterozygous mutation 427 cases of malformation of inner ear, 371 cases of mondini malformation). 338 cases of simple large vestibular aqueduct, The pathogenicity mutation of the GJB2 gene in the inner ear CT (n = 1813, n = 1813) was detected in the normal group of inner ear CT (n = 1813, n = 1813). The pathogenicity mutation of the GJB2 gene in the inner ear CT group was 99.30% ~ 426 / 429) and the pathogenicity mutation of the SLC26A4 gene was detected in the normal group of the inner ear CT (n = 100). Conclusion the pathogenicity of GJB2 gene is higher than that of the inner ear. The phenotype of normal ear CT is closely related to the pathogenicity mutation of SLC26A4 gene and the inner ear malformation associated with vestibular aqueduct enlargement.
【作者单位】：解放军总医院第一附属医院耳鼻喉科;解放军总医院耳鼻咽喉-头颈外科;解放军总医院海南分院耳鼻咽喉头颈外科;
【基金】：国家十二五支撑项目(2012BAI09B00,2012BAI12B01) 国家自然科学基金重点项目(81230020);国家自然科学基金面上项目(81371096,81371098) 卫生部行业专项基金(201202005) 北京市自然科学基金面上项目(7132177,7122172) 北京市科技新星计划(2009B34,2010B081) 国家高技术研究发展计划(“863”,2012AA0201)
【分类号】：R764.43

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