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目的 探讨并建立软骨发育不全患者成纤维细胞生长因子受体 3(fibroblast growth factorreceptor 3,FGFR3)基因常见突变的快速检测方法。方法 抽提软骨发育不全患者及双亲的 DNA,PCR扩增含有 FGFR3基因高发突变位点 G380 R区域 ,将 PCR产物直接用限制性内切酶 Sfe 消化 ,15 % PAGE凝胶电泳。结果 电泳检测显示软骨发育不全患者为 16 4bp、10 9bp和 5 5 bp 3条带 ,而患者父母及正常人仅出现 16 4bp的单条带。结论 PCR-限制性酶切法是对软骨发育不全患者 FGFR3基因常见突变进行检测的一种有效的方法。适合于对软骨发育不全进行快速基因诊断和产前基因诊断
Objective To explore and establish a rapid method for detecting common mutations of fibroblast growth factor receptor 3 (FGFR3) gene in patients with achondroplasia. Methods DNA was extracted from patients with achondroplasia and their parents. PCR was performed to amplify the G380 R region containing the mutation site of FGFR3 gene. The PCR product was directly digested with restriction endonuclease Sfe and subjected to 15% PAGE electrophoresis. Results The results of electrophoresis showed that the patients with achondroplasia were 16 4bp, 10 9 bp and 5 5 bp 3 bands, while only 16 4bp single band appeared in the patients’ parents and normal controls. Conclusion PCR-restriction enzyme digestion is an effective method for the detection of common mutations in FGFR3 gene in patients with achondroplasia. Suitable for rapid genetic diagnosis of achondroplasia and prenatal diagnosis