Prev-DAF试剂盒分析线粒体基因1555A-G突变

目的建立应用标准试剂盒方法检测线粒体基因1555A-G(mtDNA1555A-G)突变的程序,进行母系遗传耳聋家系的基因型分析.方法采用Prev-DAF试剂盒分析14个母系遗传耳聋家系,共检测耳聋患者34个,正常个体11个,并以Alw26酶切和测序方法验证试剂盒检测的准确性.结果Prey-DAF试剂盒检测结果证实13个家系中33个耳聋患者携带有mtDNA1555A-G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.结论在中国,mtDNA1555A-G氨基糖甙类抗生素致聋的家系多,分布广,Prev-DAF试剂盒在分析线粒体基因1555A-G突变方面具有简单、低耗、结果直观的特点,适合在中国用于进行此突变的大规模筛查或预防性检查.

Mitochondrial DNA 1555A-G mutation analyzed by Prev-DAF testing kit

Objective To establish a new diagnosis method of mitochondrial DNA 1555 A-G mutation and to analyze the genotypes of 14 maternal inherited deafness pedigrees. Methods Fourteen maternal inherited hearing loss pedigrees were analyzed by a new compact detecting kit for 1555 A-G mutation. The wild type and 1555 A-G mutated mtDNA can be distinguished clearly by this method. Results Thirty four deaf patients from 14 maternal inherited deafness pedigrees and 11 unrelated normal individuals were tested and 33 patients were found to carry the mtDNA 1555 A-G mutation while one patient and 11 normal individual didn't carry this mutation. The results were all confirmed by Alw26I restriction reaction and sequencing. Conclsion Maternal inherited deafness families were distributed widely in China. The detection of mtDNA 1555 A-G mutation by ready to use detection kit with low cost is needed and suitable in China for large scale screening and preventive testing before usage of aminoglycoside antibiotics.