摘要
目的对福州市聋哑学校非综合征性耳聋的患儿进行聋病分子病因学分析。方法对福州市153名聋哑学校学生进行耳聋病因问卷调查、纯音听阈测试,并对150名非综合征性感音神经性耳聋患者进行GJB2和线粒体DNA 12SrRNA A1555G基因突变检测。结果 150例感音神经性耳聋患者中13例(8．67％)为GJB2 235delC纯合突变,10例(6．67％)为GJB2 235delC杂合突变,1例(0．67％)存在线粒体DNA 12SrRNA A1555G点突变。在分子水平能够明确诊断者达16％。结论福州地区GJB2突变发生率低于其他学者报告的数据,线粒体DNA 12SrRNA A1555G突变低于全国平均水平。GJB2基因突变分析用于产前诊断可以降低耳聋的发病率,线粒体DNA 12SrRNA A1555G点突变检测是预防药物性耳聋的有效途径。
Objective To conduct a molecular epidemiological survey of patients with non-syndromic sensorineural hearing impairment in Fuzhou, Fujian. Methods The medical history of 150 deaf school students was collected by a questionnaire survey. The audiological examination was conducted with pure-tone audiometry（MADSEN VOYAGER 502）. The 235delc mutation in GJB2 was identified by restriction enzyme Apa I digestion. MtDNA 12SrRNA A1555G mutation was detected using the Prev-DAF Testing Kit. Results Among 150 deaf students, 13 cases （8.67%） were found to have homozygous GJB2 235delc mutation, and 10 cases （6.67%） had heterozygous GJB2 235delc mutation. One patient （0.67%） was found to carry mtDNA 12SrRNA A1555G mutation. Conclusions The incidence of GJB2 235delc and mtDNA 12SrRNA A1555G mutation in the deaf population of Fuzhou, Fujian Province is lower than the average level of the general Chinese deaf population. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss.
出处
《中华耳科学杂志》
CSCD
2006年第1期12-14,共3页
Chinese Journal of Otology
基金
国家自然科学基金(30572015)国家教育部归国人员启动基金中国人民解放军总医院院长基金(03YZJJ007)
