自身免疫性感音神经性聋患者候选基因--凝血因子C同源物突变筛查  

A candidate gene screening of coagulation factor C homology in patients with autoimmune sensorineural hearing loss

作　　者：孙勍[1] 于飞[2] 刘新[2] 康东洋[2] 张昕[2] 戴朴[2] 袁慧军[2] 韩东一[2] 

机构地区：[1]武警总医院耳鼻咽喉头颈外科,北京100039 [2]中国人民解放军总医院耳鼻咽喉科研究所,北京100853

出　　处：《中华耳科学杂志》2008年第3期302-305,共4页Chinese Journal of Otology

基　　金：国家自然科学基金面上项目(30371523);国家自然科学基金海外青年学者合作基金(30528025)

摘　　要：目的通过对22例自身免疫性感音神经性聋(autoimmune sensorineural hearing loss,ASNHL)患者进行凝血因子C同源物基因(coagulation factor C homology,COCH)全序列分析,探索自身免疫性感音神经性聋与COCH突变的相关性。方法应用聚合酶链反应(PCR)产物直接测序方法对22例自身免疫性感音神经性聋患者进行COCH全序列分析。结果在22例自身免疫性感音神经性聋病例中未发现COCH突变和多态。结论初步探索了ASNHL与COCH突变的相关性,未发现COCH突变和多态,还需进一步收集临床病例来证实。Objective To investigate the potential relationship between the autoimmune sensorineural hearing loss （ASNHL） and coagulation factor C homology gene（COCH） mutation, a mutation screening of COCH was conducted among 22 cases with ASNHL. Methods PCR product sequencing was applied to 200 bp up-stream and down-stream of exons 2 to 12 of COCH gene among 22 cases with ASNHL. Results None of polymorphisms and mutations is found in these cases. Conclusion The relationship between the ASNHL and COCH mutation is preliminarily probed and no polymorphisms and mutations of COCH were detected. Clinical studies with large numbers of patients will help us to clarify this issue.

关 键 词：自身免疫性感音神经性聋 凝血因子C同源物基因 候选基因 

分 类 号：R764.3[医药卫生—耳鼻咽喉科] R394.112[医药卫生—临床医学]