论文部分内容阅读
目的 研究先天性视网膜劈裂症 (XL RS)家系的 XL RS1基因突变情况及其发病机制 ,为建立基因诊断的方法提供理论依据。 方法 采用聚合酶链反应 (PCR)和 DNA直接测序方法对两个家系的XL RS1基因编码区进行突变的筛选及检测。 结果 在家系 1中发现 Pro193Ser突变。 结论 在 XL RS家系中发现 XL RS1基因突变。本研究结果可直接应用于 XL RS的遗传咨询和产前基因诊断。
Objective To study the gene mutation status of XL RS1 gene in pedigree of congenital retinopathy of retinopathy (RIP) and its pathogenesis, and to provide a theoretical basis for establishing genetic diagnosis method. Methods The mutation of XL RS1 gene in two families was screened and detected by polymerase chain reaction (PCR) and DNA direct sequencing. Results Pro193Ser mutation was found in pedigree 1. Conclusion XL RS1 gene mutation was found in XL RS pedigrees. The results of this study can be directly applied to genetic counseling and prenatal diagnosis of XL RS.