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目的通过一家系线粒体12SrRNA基因突变情况检测,分析基因芯片和测序技术在该基因检测中的应用,并探讨该位点新生突变的可能机制。方法通过提取四位家庭成员的外周血DNA,分别采用遗传性耳聋基因芯片检测方法和Sanger测序技术对线粒体12Sr RNA基因1494和1555两个位点进行检测分析。结果 1)基因芯片检测提示四位家庭成员中,只有Ⅲ2成员为A1555G异质突变,其他家庭成员线粒体基因均为野生型;2)Sanger测序结果提示四位家庭成员均未检测到12Sr RNA基因1494和1555两个位点存在突变;3)在排除人为因素导致检测结果不准确的基础上,基因芯片和Sanger测序对12Sr RNA基因位点突变检出效果不同。结论线粒体基因12Sr RNA 1555位点在家族遗传过程中可能会发生新的改变,Sanger测序技术对该位点的检出低于基因芯片技术。
Objective To detect the mutation of mitochondrial 12S rRNA gene in a family and analyze the application of gene chip and sequencing technology in the detection of this gene and to explore the possible mechanism of the newborn mutation in this locus. Methods The peripheral blood DNA of four members of the family was extracted and the mitochondrial 12S rRNA genes 1494 and 1555 were detected by genetic deafness gene chip detection and Sanger sequencing respectively. Results 1) Gene chip analysis showed that only three of the four members of the family members were A1555G heterozygous mutation, while the mitochondrial genes of other family members were wild type; 2) Sanger sequencing suggested that none of the four family members detected 12Sr RNA gene 1494 And 1555 mutations in the two loci. 3) The results of gene chip and Sanger sequencing on 12Sr RNA gene mutation detection were different based on the inaccuracy of human factors. Conclusion Mitochondrial 12S rRNA 1555 locus may be changed in the process of family inheritance. The detection of this locus by Sanger sequencing technology is lower than that of gene chip technology.