摘要
目的探讨伴内耳畸形的人工耳蜗植入患者 SLC26A4(PDS)基因突变发生的概率、突变类型,以及 SLC26A4(PDS)基因突变与各种内耳畸形及术中听神经电诱发复合动作电位(ECAP)检出率之间的关系。方法选取48例伴有内耳畸形的人工耳蜗植入者及50例健康对照。取外周血提取基因组 DNA,经聚合酶链反应扩增 SLC26A4(PDS)基因全部编码区,包括2～21号外显子,扩增产物纯化后直接测序分析突变。48例患者在人工耳蜗植入术中通过神经反应遥测(NRT)技术,直接近场记录听神经电诱发复合动作电位(ECAP)。结果前庭水管扩大组中70.3%(26/37)、其他内耳畸形组中18.2%(2/11)的患者发现有 SLC26A4(PDS)基因突变。本研究中共发现15种突变类型,其中有8种为新发现的类型。IVS7-2A>G 是最常见的 SLC26A4(PDS)基因突变类型,45.9%(17/37)的前庭水管扩大患者发现此种突变。在伴内耳畸形的人工耳蜗植入者患者中,未发现 SLC26A4(PDS)基因突变与术中听神经电诱发复合动作电位(ECAP)检出率之间有相关性。结论 SLC26A4(PDS)基因突变是前庭水管扩大畸形的主要病因,IVST-2A>G 是其最常见的突变类型。
Objective To determine the prevalence of SLC26A4（PDS） gene mutations in cochlear implant recipients with inner ear malformation, and the correlation between SLC26A4 （PDS） gene mutation and inner ear malformation and intra-operative testing of the electrically evoked auditory nerve compound action potentials （ECAP）. Methods Peripheral blood samples were collected from 48 cochlear implant recipients with temporal bone malformation and 50 healthy controls. Genomic DNA was extracted from the blood; PCR and direct sequencing were used to detect the mutations of SLC26A4 （PDS） gene. During the implantation of artificial cochlea the 48 recipients underwent intraoperative neural response telemetry （NRT） to measure the electrically evoked auditory nerve compound action potentials （ECAP）. Results SLC26A4 （PDS） mutations were detected in 70. 3% （26/37） of the patients with enlarged vestibular aqueduct （EVA）, and 18.2% （2/11） of the patients with other malformations of inner ear. Fifteen different mutations were identified, 8 of which had never been previously reported. The IVS7-2A 〉 G mutation was the most prevalent mutation of SLC26A4 （PDS） gene, accounting for 45.9 % （17/37） in the EVA patients. No association was detected between SLC26A4 mutation and ECAP. Conclusion Mutations in the SLC26A4 （PDS） gene is a major cause of EVA, with IVS7-2A 〉 G as the most common mutation form.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2007年第40期2820-2824,共5页
National Medical Journal of China
基金
国家自然科学基金(30271401)
首都医学发展科研基金(2005-1032)
关键词
耳畸形
获得性
前庭水管
突变
耳蜗植入
Ear deformities, acquired
Vestibular aqueduct
Mutation
Cochlear implantation
