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目的 探讨应用试剂盒方法在大规模耳聋患者群中检测线粒体基因A1555G突变的可行性。 方法 采用线粒体基因A1555G突变检测试剂盒分析324例个体,其中属于25个母系遗传耳聋家系的有56个耳聋患者,散发性耳聋患者257个,正常个体11个,母系遗传耳聋家系中的耳聋患者多有氨基糖甙类抗生素接触史,部分检测结果以Alw26酶切和测序方法验证试剂盒检测的准确性。结果 线粒体基因A1555G突变检测试剂盒检测结果证实24个家系中55个耳聋患者携带有A1555G突变,另1个耳聋家系中的一名耳聋患者不携带此突变,11个正常个体及257个散发性耳聋患者中无此突变,试剂盒检测方法与Alw26I酶切法和测序结果完全吻合。讨论 线粒体基因 A1555G突变是氨基糖甙类抗生素致聋的主要原因,其患者多分布于母系遗传特点的家系,线粒体基因A1555G突变检测试剂盒在分析线粒体基因A1555G突变方面具有简单、低耗、结果直观的特点,最短检测周期为3小时30分钟,适合A1555G突变的大规模筛查或用药前预防性检查。
Objective To investigate the feasibility of using kit method to detect mitochondrial gene A1555G mutation in large deafness patient population. Methods A total of 324 individuals with deafness were enrolled in this study. A total of 324 deaf individuals were enrolled in this study. A total of 257 deaf patients with deafness and 11 normal controls were enrolled in this study. A total of 324 deaf patients A history of exposure to aminoglycoside antibiotics, part of the test results to Alw26 digestion and sequencing methods to verify the accuracy of the kit. Results The mitochondrial gene A1555G mutation detection kit results showed that 55 deaf patients in 24 families had A1555G mutation. One deaf patient in the other deafness family did not carry this mutation, 11 normal individuals and 257 sporadic deafness No such mutation in patients, kit detection method and Alw26I digestion and sequencing results exactly. Discussion The mitochondrial gene A1555G mutation is the main cause of aminoglycoside-induced deafness. The patients are mostly distributed in the pedigree with maternally inherited characteristics. The mitochondrial gene A1555G mutation detection kit is simple, low-power and intuitive in the analysis of the mitochondrial gene A1555G mutation The shortest detection period of 3 hours and 30 minutes, suitable for large-scale screening of A1555G mutation or pre-medication preventive tests.