摘要
目的:分析山西省晋城地区新生儿群体中药物敏感性耳聋基因12S rRNA 1555A>G和1494C>T热点突变情况。方法:采集晋城市40240例新生儿足跟血制成干血斑,提取基因组DNA,经PCR扩增目的基因片段后,利用低密度基因芯片-导流杂交平台进行检测。结果:40240例新生儿中发现12SrRNA热点突变携带者135例(3.4‰),1555A>G突变133例(3.3‰)、高平市47例(4.5‰)。1494C>T突变者仅2例(0.05‰)。结论:与全国其它省市相比,晋城地区尤其是高平市为药物敏感性耳聋基因12S rRNA热点突变高发地区,可能与其所在坏境有关。突变主要形式为1555A>G,1494C>T突变较为罕见。
Objective： To analyze the hot gene mutation of drug sensitivity deafness （12S rRNA） of newborn from Jincheng area, Shanxi province, which including 1555 A〉G and 1494C 〉T site. Method： A total of 40240 specimens of neonatal dried blood spots made from heel blood were collected from Jincheng area. The mutation sites of 12S rRNA gene were detected by low density gene chips diversion hybrid platform after the whole genome DNA had been ab- stracted and PCR amplified. Results： Of 40240 neonates, 135 neonates were the carriers with 12S rRNA mutation （3.4‰）, and 133 neonates were found carrying 1555 A〉G （mutation rate was 3.3‰）, which included 47 neonates （4.5‰） from Gaoping city. Mutation with 1494 C〉T was only 2 cases （0.05‰）. Conclusion： Jincheng area, especial- ly Gaoping city was the area with high mutation rate of drug sensitivity deafness gene 12S rRNA when compared to the level of China, which perhaps is relate to the local environment. The mutation hot site is mainly 1555 A〉G, but 1494 C〉T is rare.
作者
孟卫京
薛晋杰
郝伟明
李红霞
MENG Weijing;XUE Jinjie;HAO Weiming;LI Hongxia(Shanxi Reproductive Science Institute,Taiyuan City,Shanmi Province,030006;Children＇s Hospital of Shanxi)
出处
《中国计划生育学杂志》
2018年第9期849-852,共4页
Chinese Journal of Family Planning
基金
山西省卫计委科研项目(2017121)
