摘要
目的 分析非综合征感音神经性聋 (non syndromicsensorineuralhearingloss,NSSNHL)患者及听力正常者中 3种线粒体DNA(mitochondrialDNA ,mtDNA)突变的发生频率 ,探寻mtDNA突变在NSSNHL发病中的可能作用。方法 收集年龄从 3～ 84岁的 6 1例散发的NSSNHL病例 ,6～ 6 8岁的 19例听力正常人外周血 ,提取白细胞DNA ,结合应用中断法聚合酶链反应 (polymerasechainreaction ,PCR)及引物交换PCR方法检测mtDNA4 977缺失 ,应用PCR方法及限制性片段长度多态性分析检测mtDNA1555A→G和mtDNA3 2 4 3A→G点突变 ,PCR产物以全自动激光荧光测序仪做序列分析。结果 ①耳聋组及对照组的mtDNA4 977缺失检出率 (缺失例数 /总例数 )分别为 6 8 85 % (4 2 / 6 1)及 5 2 6 % (1/ 19) ;②所有样本均未检出mtDNA1555A→G及mtDNA3 2 4 3A→G点突变。结论 NSSNHL组mtDNA4 977缺失发生频率明显高于听力正常组 ,提示mtDNA4 977缺失可能是NSSNHL患者发病的一个重要的作用因素 ;mtDNA1555A→G点突变、mtDNA3 2 4
Objective To analyze the incidence of three types of mitochondrial DNA mutations in the non-syndromic sensorineural hearing loss (NSSNHL) patients and control subjects in order to investigate the possible role of mitochondrial DNA mutations in NSSNHL. Methods Sixty-one sporadic NSSNHL patients (from 3 to 84 years old) and 19 control subjects matched for age were selected. DNA was extracted from isolated blood leukocytes. Interrupt polymerase chain reaction (PCR) and primer-shift PCR were used to detect the mtDNA 4977 deletion; mtDNA 1555A→G and mtDNA 3243A→G point mutation were detected by PCR and restriction fragment length polymorphism (RFLP) analysis. PCR products were sequenced by automated laser fluorescent DNA sequencer. Results The detection rate of mtDNA 4977 deletion in deafness groups and control groups are 68.85%(42/61)vs. 5.26%(1/19). Among all the samples,neither any mtDNA 1555A→G mutation nor mtDNA 3243A→G point mutation was detected. Conclusions MtDNA 4977 deletion had a high detection rate in patients with NSSNHL. MtDNA 1555A→G mutation and mtDNA 3243A→G point mutation may not be common mutations in patients with NSSNHL.
出处
《中华耳鼻咽喉科杂志》
CAS
CSCD
北大核心
2002年第5期338-342,共5页
Chinese Journal of Otorhinolaryngology
基金
国家杰出青年基金资助项目 ( 3992 5 0 35 )
国家自然科学基金资助项目 ( 396 70 781)
教育部"高等学校骨干教师资助计划"资助项目
