【摘要】 目的 建立一套快速准确确诊遗传性对称性红斑角化症的方法，为备孕家庭提供指导性意见。方法 对35例患有遗传性对称性红斑角化症的新生儿的皮肤组织进行基因序列分析，筛查出导致遗传性对称性红斑角化症的突变点位，针对这些靶点基因设计对应的引物和基因探针，确立PCR的扩增条件，建立一整套快速准确筛查遗传性对称性红斑角化症的方法。结果 35例遗传性对称性红斑角化症DNA对比分析发现KRT-XY区域存在点位异常。建立PCR基因靶点筛查系统，PCR基因靶点筛查遗传性对称性红斑角化症实验的阳性对照及样板参照结果均与预期一致。结论 以DNA靶点为基础设计的引物、基因探针作为遗传性对称性红斑角化症基因靶点筛查具有极高的准确率，是快速筛查遗传性对称性红斑角化症的理想检测方法之一。更多还原

【Abstract】 Objective To establish a rapid and accurate method in the diagnosis of hereditary erythema symmetry keratosis, and provide a guidance for family preparation for pregnancy. Methods Gene sequence analysis was performed on the skin tissues of 35 neonates with hereditary erythema symmetry keratosis, and the mutation sites causing hereditary erythema symmetry keratosis were screened. Primers and gene probes were designed for these target genes, and the amplification conditions of PCR were confirmed to establish a set of rapid and accurate screening methods for hereditary erythema symmetry keratosis. Results DNA analysis of 35 cases of hereditary erythema symmetry keratosis showed that KRT-XY region was abnormal. The PCR gene target screening system was established, and the positive control and sample reference results of PCR gene target screening for hereditary erythema symmetric keratosis were consistent with expectations. Conclusion Primers and probes designed on the basis of DNA targets can be used as genetic targets for hereditary erythema symmetric keratosis with high accuracy, which is one of the ideal detection methods for rapidly screening the hereditary erythema symmetric keratosis.更多还原