一个X连锁隐性遗传耳聋基因POU3F4的新突变

发布时间：2018-02-05 03:15

本文关键词： POUF 耳聋新突变　出处：《中华耳科学杂志》2014年01期 　论文类型：期刊论文

【摘要】：目的基于耳聋患者的临床表现,选定POU3F4基因作为检测对象,为患者提供病因学诊断。方法对先证者进行全面的体格检查,排除其他器官病变,并进行详细的听力学及颞骨CT检查。提取先证者外周血白细胞基因组DNA,运用聚合酶链反应的方法,对先证者POU3F4基因进行扩增,直接测序法对POU3F4基因进行全部编码序列检测。结果先证者表现出极重度感音神经性聋。颞骨CT显示双侧耳蜗分隔不全、前庭发育不良、内听道底膨大、耳蜗和内听道底相通。基因检测发现该患者POU3F4基因存在一个新的突变(c.530CA(p.S177X)),该位点改变导致终止密码子提前出现,使POU3F4转录因子不能发挥其正常的功能。结论通过对该患者POU3F4基因的序列分析,发现了一个明确致病的新的提前终止的突变位点,丰富了POU3F4基因的突变谱。
[Abstract]:Objective based on the clinical manifestations of deafness patients, POU3F4 gene was selected as the detection object to provide etiological diagnosis for the patients. The genomic DNA of peripheral blood leukocytes of the proband was extracted and amplified by polymerase chain reaction (PCR). All coding sequences of POU3F4 gene were detected by direct sequencing. Results the proband showed extremely severe sensorineural hearing loss. Ct of temporal bone showed bilateral cochlear septal insufficiency and vestibular dysplasia. The cochlea and the fundus of the inner auditory canal were enlarged and the cochlea was connected to the fundus of the inner auditory canal. A new mutation of POU3F4 gene was found in this patient (c. 530CAp.S177XG). The change of this locus resulted in the early appearance of the termination codon, which prevented the POU3F4 transcription factor from performing its normal function. Conclusion the sequence analysis of the POU3F4 gene in this patient is carried out. A new early terminating mutation site was found, which enriches the mutation profile of POU3F4 gene.
【作者单位】：解放军总医院海南分院耳鼻咽喉头颈外科;解放军总医院耳鼻咽喉头颈外科;
【基金】：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) 国家十二五支撑项目(2012BAIB02) 卫生部行业专项基金(201202005) 北京市自然科学基金面上项目(7122172,7132177) 北京市科技新星计划(2009B34,2010B081)
【分类号】：R764.43
【正文快照】： 遗传性非综合征耳聋的遗传方式分为五种:一、常染色体显性及不完全显性,占22%;二、常染色体隐性遗传,占77%;三、X-连锁遗传,约占1%;四、Y-连锁遗传;五、线粒体母系遗传,约占1%[1,2]。X染色体连锁引起的非综合征耳聋约占遗传性耳聋的1%-2%。目前,在X染色体上已确定的引起非综合

【共引文献】