[线粒体DNA突变与非综合征性感音神经性听力损失]

[Mitochondrial DNA mutations and non-syndromic sensorineural hearing loss].

作者信息

Kong Weijia, Wang Qiong, Zheng Xiaomin, Cheng Huamao

机构信息

Department of Otorhinolaryngology, Union Hospital of Tongji Medical School, Huazhong University of Science & Technology, Wuhan 430022, China.

出版信息

Zhonghua Er Bi Yan Hou Ke Za Zhi. 2002 Oct;37(5):338-42.

PMID:12772452

Abstract

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 mtDNA4977 deletion; mtDNA1555A-->G and mtDNA3243A-->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 mtDNA4977 deletion in deafness groups and control groups are 68.85%(42/61) vs. 5.26%(1/19). Among all the samples, neither any mtDNA1555A-->G mutation nor mtDNA3243A-->G point mutation was detected.

CONCLUSIONS

MtDNA4977 deletion had a high detection rate in patients with NSSNHL. MtDNA1555A-->G mutation and mtDNA3243A-->G point mutation may not be common mutations in patients with NSSNHL.

摘要

目的

分析非综合征性感音神经性听力损失（NSSNHL）患者及对照人群中三种线粒体DNA突变的发生率，以探讨线粒体DNA突变在NSSNHL中的可能作用。

方法

选取61例散发性NSSNHL患者（年龄3至84岁）及19例年龄匹配的对照者。从分离的血液白细胞中提取DNA。采用中断聚合酶链反应（PCR）和引物移位PCR检测线粒体DNA 4977缺失；通过PCR和限制性片段长度多态性（RFLP）分析检测线粒体DNA 1555A→G和线粒体DNA 3243A→G点突变。PCR产物用自动激光荧光DNA测序仪进行测序。