中华耳科学杂志Issue(1)：30-33,4.DOI:10.3969/j.issn.1672-2922.2014.01.008
GJB2、SLC26A4基因致病性突变与内耳CT表型关系的研究
Study on the Relationship between the Pathogenic Mutations of GJB2、SLC26A4 and CT Phenotypes of Inner Ear in Patient with Sensorineural Hearing Loss
摘要
Abstract
Objects Study on the relationship between the pathogenic mutations of GJB2、SLC26A4 and CT pheno-types of inner ear. Explore the feasibility of using the method of gene sequence analysis to help CT examination in diagnosing of patients with inner ear malformation. Methods 2686 cases of patients were detected by GJB2 and SLC26A4 with the meth-od of DNA sequence. CT phenotypes of those patients were classified according to the method proposed by Sennaroglu. We analyzed the relationship between the pathogenic mutations of gene and the CT phenotypes. Results 1、429 cases were de-tected with pathogenic mutations of GJB2 (220 cases were homozygous, 207 cases were compound heterozygous and 2 case carried dominant mutation). 596 cases were detected with pathogenic mutations of SLC26A4 (169 cases were homozygous, 427 cases were compound heterozygous). 2、873 cases of inner ear malformations were diagnosed by CT examination(371 cas-es of Mondini malformation, 338 cases of enlarged vestibular aqueduct malformation and 164 cases of other types), normal was 1813 cases. 3、99.30%(426/429) cases carried pathogenic mutation of GJB2 were detected in the normal group and 100%(596/596)cases carried pathogenic mutation of SLC26A4 were detected in the group related to vestibular aqueduct malforma-tion. Conclusion The results suggested that pathogenic mutations of GJB2 is closely related to the CT phenotype of normal and pathogenic mutations of SLC26A4 is closely related to the CT phenotype of vestibular aqueduct malformation.关键词
感音神经性耳聋/GJB2基因/SLC26A4基因/CT表型Key words
Sensorineural Hearing Loss/GJB2 gene/SLC26A4 gene/CT Phenotype分类
医药卫生引用本文复制引用
孙宝春,代志瑶,黄莎莎,韩冰,袁永一,苏钰,康东洋,戴朴..GJB2、SLC26A4基因致病性突变与内耳CT表型关系的研究[J].中华耳科学杂志,2014,(1):30-33,4.基金项目
国家十二五支撑项目（2012BAI09B00，2012BAI12B01）；国家自然科学基金重点项目（81230020）；卫生部行业专项基金（201202005）；国家自然科学基金面上项目（81371096，81371098）；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) （）
