论文部分内容阅读
为了探讨囊性纤维化跨膜转运调节物 (CFTR)基因在中国人先天性双侧输精管缺如 (CBAVD)患者中的突变频率及热点 ,应用聚合酶链反应 -单链构象多态 (PCR-SSCP)、银染技术及 PCR产物直接序列分析的方法检测了 32例 CBAVD患者 CFTR基因第 2、3、4、5、6 a、8、10、11、12、13、15A、17b、19A、2 0、2 1、2 3外显子区域上的突变情况。结果 :2例存在 PCR- SSCP电泳迁移的改变 ,经测序确认了 CFTR基因突变的性质。结论 :PCR- SSCP银染技术检出中国人 CBAVD患者 CFTR基因突变为 :ΔF50 8,2 2 5del C。所以此方法作为检测 CFTR基因突变是可行的
To investigate the mutation frequency and hot spots of cystic fibrosis transmembrane transport regulator (CFTR) gene in Chinese patients with congenital bilateral absence of vas deferens (CBAVD), polymerase chain reaction-single strand conformation polymorphism (PCR- SSCP), silver staining and direct sequencing of PCR products were used to detect the expression of CFTR gene in 32 patients with CBAVD (2,3,4,5,6 a, 8,10,11,12,13,15A, 17b, 19A, 2 0,2 1,2 3 Exon region mutations. Results: There were two cases of PCR-SSCP electrophoresis migration changes, confirmed by sequencing the nature of CFTR gene mutations. Conclusion: The mutation of CFTR gene detected by PCR-SSCP silver staining in Chinese patients with CBAVD is ΔF50 8,2 2 5del C. Therefore, this method is feasible as a test of CFTR gene mutation