江苏地区人群线粒体DNA 12S rRNA A1555G和C1494T位点突变分析

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摘要目的探讨江苏地区人群线粒体DNA 12S rRNA A1555G和C1494T的突变情况。方法选取江苏地区参加耳聋基因筛查的1843例作为研究对象，按是否耳聋以及有无家族史分为三组，其中非综合征性耳聋患者904例为耳聋组，听力正常的耳聋患者家庭人员299例为耳聋高危组，听力正常的非耳聋患者家庭人员640例为正常对照组。耳聋患者按地区分为苏南、苏中、苏北三组，其中镇江的254例为苏南组，泰兴、如皋、高邮的287例为苏中组，涟水、沭阳的363例为苏北组。收集所有研究对象的相关资料，提取全血基因组DNA，对线粒体DNA 12S rRNA A1555G和C1494T的突变情况进行检测和分析。结果耳聋组、耳聋高危组、正常对照组的A1555G和C1494T突变检出率比较，差异有高度统计学意义（P ＜ 0.01）；耳聋组和耳聋高危组A1555G和C1494T突变检出率高于正常对照组，差异有高度统计学意义（P ＜ 0.01）；耳聋高危组与耳聋组比较，差异无统计学意义（P ＞ 0.05）。苏南、苏中、苏北三组A1555G和C1494T突变检出率比较，差异有统计学意义（P ＜ 0.05）；苏北组A1555G和C1494T突变检出率高于苏中组和苏南组，差异有统计学意义（P ＜ 0.05）；苏中组和苏南组比较，差异无统计学意义（P ＞ 0.05）。结论江苏地区耳聋和耳聋高危人群中线粒体DNA 12S rRNA A1555G和C1494T的突变检出率较高，且具有地区差异。在江苏地区人群中开展线粒体DNA 12S rRNA A1555G和C1494T突变筛查，并为突变基因携带者及其母系家庭成员提供合理的用药指导和遗传咨询，对降低药物性耳聋缺陷儿的发生具有重要的临床意义。

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	李孟兰林宁石慧王丽娟姜志欣黄丽丽吴玉璘

关键词 ：耳聋, 线粒体DNA, 12S rRNA, A1555G, C1494T, 突变

Abstract：Objective To investigate the mutations of mitochondrial DNA 12S rRNA A1555G and C1494T among the population in Jiangsu region. Methods A total of 1843 cases were enrolled from the deafness genetic screening in Jiangsu Province, and they were divided into three groups according to their deafness status and family history, including 904 cases with non-syndromic deafness as the deafness group, 299 cases with family members of deafness as the deafness high risk group, 640 cases with normal hearing and without family members of deafness as the normal control group. And deafness patients were divided into three groups according to the region: South Jiangsu, Middle Jiangsu and North Jiangsu, including 254 cases in Zhenjiang were from the South Jiangsu group, 287 cases in Taixing, Rugao and Gaoyou were from the Middle Jiangsu group, and 363 cases in Lianshui and Shuyang were from the north Jiangsu group. Relevant date of all these subjects were collected, and genomic DNA were extracted from the whole blood and mitochondrial DNA 12S rRNA A1555G and C1494T were genotyped. Results Comparison of the detection rate of A1555G and C1494T mutation in deafness group, deafness high risk group and normal control group showed statistically significant difference (P ＜ 0.01). The mutation rate of A1555G and C1494T in deafness group and deafness high risk group was higher than that in normal control group, and the difference was highly statistically significant (P ＜ 0.01), There was no significant difference between the deafness high risk group and the deafness group (P ＞ 0.05). The mutation detection rates of A1555G and C1494T in the three groups of South, Middle and North Jiangsu groups were compared, and the differences were statistically significant (P ＜ 0.05), the mutation rate of A1555G and C1494T in the North Jiangsu group was higher than that in the Middle Jiangsu group and the South Jiangsu group, and the differences were statistically significant (P ＜ 0.05), but there was no statistically significant difference between the Middle Jiangsu group and the South Jiangsu group (P ＞ 0.05). Conclusion The mutation rate of mitochondrial DNA 12S rRNA A1555G and C1494T in deafness and deafness high risk population in Jiangsu region is high, and there are regional differences. Screening for mitochondrial DNA 12S rRNA A1555G and C1494T mutations in Jiangsu population, and providing reasonable medication guidance and genetic counseling for mutant gene carriers and their maternal family members, have important clinical significance in reducing the occurrence of drug-related deafness defects.

Key words： Deafness Mitochondrial DNA 12S rRNA A1555G C1494T Mutation

基金资助:江苏省科技厅创新能力建设计划（科技设施类）--省属公益类科研院所自主科研经费项目（BM2018033、BM 2018033-3）。

通讯作者: 吴玉璘（1964.11-），男，博士，研究员；研究方向：遗传毒理、生殖健康。

作者简介: 李孟兰（1984.1-），女，硕士，副主任技师；研究方向：出生缺陷、生殖健康。

引用本文:

李孟兰林宁石慧王丽娟姜志欣黄丽丽吴玉璘. 江苏地区人群线粒体DNA 12S rRNA A1555G和C1494T位点突变分析[J]. 中国医药导报, 2021, 18(1): 27-30.
LI Menglan LIN Ning SHI Hui WANG Lijuan JIANG Zhixin HUANG Lili WU Yulin. Analysis of mutations of mitochondrial DNA 12S rRNA A1555G and C1494T among the population in Jiangsu region. 中国医药导报, 2021, 18(1): 27-30.

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