| Objectives:Retinitis pigmentosa(RP)is a hereditary ophthalmic blinded disease.It is reported that there are dozens of pathogenic genes associated with the disease.The traditional generation sequencing technology detection these pathogenic genes are time-consuming and low detection flux.However high-throughput sequencing(Next-generation sequencing)can be one-time and efficient on the hundreds of genes or even human whole genome exon sequencing,so it is widely used in genomics.As current high-throughput sequencing technology on the use of RP clinical gene diagnosis is still less,therefore,this thesis will explore the effectiveness,feasibility,sensitivity,specificity and safety of high-throughput sequencing technology for RP gene diagnosis.Methods:Collected and extracted four cases of peripheral blood samples of patients with RP,customized RP-related pathogenic gene capture probe,and then use high-throughput sequencing technology for four cases of peripheral blood DNA samples RP-related genes detection.Results:Finally detected:the pathogenicity of case A was USH2A,and the corresponding gene mutation were c.4217C>A and c.7068T>G,further verification of the family,preliminary case A of the RP pathogenic mutations was c.7068T>G;the pathogenicity of case B was CRB 1,and the corresponding mutations were c.2172T>A and c.3708T>G;the pathogenicity of case C was RPE65,and the corresponding gene mutation was c.1338G>T;the pathogenicity of case D was RPE65,and the corresponding gene mutations were c.1399C>G and c.1338G>T.Conclusion:High-throughput sequencing was used to detect and analyze RP-related genes in peripheral blood samples from four patients with retinitis pigmentosa detected pathogenic gene mutatjons and likely pathogenic gene mutations,and found a new RP gene mutation,therefore,this paper research tips,application of high-throughput sequencing technology for RP gene diagnosis is accurate and feasible,in the clinical have a certain practical value. |
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