新疆维吾尔族肾虚血瘀型耳聋与线粒体基因多态性的相关性研究

项目名称： 新疆维吾尔族肾虚血瘀型耳聋与线粒体基因多态性的相关性研究

项目编号： No.30860358

项目类型： 地区科学基金项目

立项/批准年度： 2009

项目学科： 金属学与金属工艺

项目作者： 李彦华

作者单位： 新疆医科大学

项目金额： 23万元

中文摘要： 【摘要】 目的 分析新疆地区维吾尔族肾虚血瘀型耳聋患者线粒体DNA 12S rRNA、tRNASer(UCN)、tRNAleu(UUR)基因突变情况，探讨上述基因突变与新疆地区维吾尔族肾虚血瘀型耳聋患者的相关性。方法 收集130例新疆地区维吾尔族肾虚血瘀型耳聋患者130例，另选取100例无耳聋家族史的健康人作为对照组。收集血样，提取DNA后PCR扩增，将PCR产物正反测序。结果 在耳聋组中共检出线粒体DNA 12S rRNA A1555G 突变7例，突变率为5.38%，其中G735A、A951G、T980C三个位点是本研究中新发现的位点。G709A、A750G位点和A1438G位点，耳聋组和对照组中均有较高的比例。tRNASer(UCN)未发现耳聋相关突变位点，对照组中发现tRNAleu(UUR)基因T3290C突变1例。tRNAleu(UUR)基因未见突变。结论 新疆地区维吾尔族肾虚血瘀型耳聋患者线粒体DNA 12S rRNArRNA A1555G 突变检出率较高，tRNASer(UCN)、tRNAleu(UUR)基因突变可能不是新疆地区维吾 尔族耳聋人群的常见病因。

中文关键词： 维吾尔族；肾虚血瘀型；基因突变

英文摘要： Objective:To analyze the Xinjiang Uygur patients with Kidney asthenia blood stasis type of hearing loss of mitochondrial DNA 12S rRNA, tRNASer (UCN), tRNAleu (UUR) gene mutation,and to analyze the relationship between gene mutations and kidney asthenia blood stasis type.Method:Collecting 130 cases of Xinjiang Uygur patients with Kidney asthenia blood stasis type of deafness,and 98 health adults as a control group.Collecting blood samples,extracting DNA and PCR amplification,then the PCR products were subjected to automatic DNA sequencing. Results:Seven cases were detected with mitochondrial DNA 12S rRNA A1555G mutation in the deaf group,the mutation rate of which is 5.38% and G735A、A951G、T980C were the newly discovered.G709A, A750G and A1438G have a higher percentage in deafness and control groups.tRNASer (UCN) did not find deafness-related mutations,only find T3290C mutation in one case incontrol grope.We did not find gene mutation in tRNAleu (UUR) gene.Conclusion:Mitochondrial DNA 12S rRNA rRNA A1555G mutation detection rate was higher in Xinjiang Uygur patients with Kidney asthenia blood stasis type of hearing loss.tRNASer(UCN) and tRNAleu(UUR) gene mutation may not be the reason which lead to Xinjiang Uygur of deaf people.

英文关键词： Uygur;Kidney asthenia blood stasis type; Gene mutation