广州市聋校听力障碍学生线粒体DNA12S rRNA A1555G突变调查分析

Analysis of Mitochondrial DNA 12S rRNA A1555G Mutations in Hearing Im paired Students from a Deafness School in Guangzhou

目的调查广州市非综合征性耳聋高危人群中线粒体DNA12S rRNA A1555G的突变情况,为我市防聋宣教提供理论依据。方法利用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对188例聋校听力障碍学生、100例听力正常的健康体检者进行临床评估及基因检测。结果 188例聋校听力障碍学生及100例听力正常的健康体检患者均未发现线粒体DNA A1555G位点突变,突变率为0,明显低于全国平均水平。结论虽然在经济较为发达的广州地区线粒体DNA A1555G突变检出率较低,但仍为预测我市耳聋高危人群耳毒性风险、合理使用氨基糖甙类抗生素提供分子学依据,为进一步研究我市耳聋基因易感性奠定基础。

Objective To investigate mitochondrial DNA 12S rRNA A1555G mutations in high risk groups with nonsyn- dromic hearing impairment in Guangzhou to provide a theoretical basis for preventing deafness. Methods Clinical data were collected and blood samples taken for genetic testing by PCR-RFLP in 188 hearing impaired students from a deafness school and 100 heahhy people. Results Mitochondrial DNA A1555G mutations were not found in either the 188 hearing impaired stu- dents or the 100 healthy people, leading to a frequency of 0,which was significantly lower than the average. Conclusion Guangzhou as a more developed economic region shows a low frequency of mitochondrial DNA 12S rRNA A1555G mutation. Our study provides a molecular basis to predict risk of ototoxicity and to improve the safe use of aminoglycoside antibiotics in potentially high risk groups with nonsyndromic hearing impairment in Guangzhou. The study also serves to, lay a foundation for further research into susceptibility related to deafness genes.