中华耳科学杂志Issue(1)：26-29,4.DOI:10.3969/j.issn.1672-2922.2014.01.007
遗传性耳聋相关基因SLC26A4新突变致病性分析
Pathogenic analysis of a novel mutation of deafness gene SLC26A4
摘要
Abstract
Objective To analyze the pathogenesis of a novel mutation SLC26A4 ivs16+10C>T detected in a Chinese family (No.7518), and provide the basic information for the molecular diagnosis of genetic hearing loss. Methods Blood sam-ple and clinical data of family 7518, 200 sporadic EVAS (enlarge vestibular aqueduct syndrome) cases and 200 normal con-trol were collected. By splice site prediction and RT-PCR, we analyze the pathogenesis of SLC26A4 ivs16+10C>T. Results According to Fruitfly, a change in the splice donor sequence from C to T in intron 16 of SLC26A4, is predicted to make no change in splice site recognition. RT-PCR results showed this mutation does not influence the length of mRNA. In addition, we identified SLC26A4 ivs16+10C>T is rare in Chinese population. This mutation were absent in the 200 sporadic patients and 200 ethnicity-matched controls. Conclusion Our results demonstrated that SLC26A4 ivs16+10C>T is not likely to be a pathogenic mutation. And their offspring will not replicate parents’hearing.关键词
SLC26A4基因/ivs16+10 C>T/致病性/大前庭水管综合征Key words
SLC26A4/ivs16+10C>T/Pathogenesis/EVAS分类
医药卫生引用本文复制引用
高雪,辛凤,袁慧军,戴朴..遗传性耳聋相关基因SLC26A4新突变致病性分析[J].中华耳科学杂志,2014,(1):26-29,4.基金项目
国家自然科学基金重点项目（81230020），“十二五”国家科技支撑计划重点项目（2012BAI12B00/2012BAI12B01），中国博士后科学基金面上资助(2012M21878)，中国博士后科学基金特别资助（2013T60947），国家科技支撑计划课题 （2012M21878）
