| Objective Detecting the deafness genes of 100 deaf patients in Inner Mongolia by using gene chip technology(microarray chip method,PCR+flow-through hybridization method)and high-throughput sequencing technology,comparing the detection rate and clear diagnosis rate of the three methods,evaluating the clinical differences and diagnostic value of the three detection methods.In order to improve the detection rate of the genes that cause deafness,more suitable detection methods are provided for different groups of people.Method 100 patients with sporadic deafness in Inner Mongolia were selected and their deafness genes were detected by microarray chip,PCR+flow-through hybridization and high-throughput sequencing,SPSS 25.0 was used to analyze the data.Results The detection results of microarray chip method and PCR+flow-through hybridization method are completely consistent.The overall detection rate of gene chip technology is 57%,and the clear diagnosis rate is 30%.The overall detection rate of high-throughput sequencing technology is 60%,which clear the rate was 44%.There was no significant difference in the overall detection rate of the two technologies(57%,60%,p> 0.05),and there was a significant difference in the clear diagnosis rate(30%,44%,p <0.05).Conclusion Gene chip technology covers the common high frequency mutation sites of deafness genes,which is suitable for the screening of deafness genes in deaf people and the general screening of deafness genes in normal people.High-throughput sequencing technology covers a wider range of detection sites than gene chip technology,it is suitable for patients with negative chip detection,considering rare deaf gene mutations,and those with single-gene heterozygosity screening at the first screening,which can significantly improve the clear diagnosis rate.According to the situation of different groups of people,combined with the characteristics of different technologies,jointly optimize the detection technology to form a cost-effective detection system,which can provide reliable technical guarantee for clinical deafness diagnosis. |
