【摘要】 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基因突变是可行的更多还原

【Abstract】 To investigate the frequency and hot spots of cystic fibrosis transmembrane conductance regulator (CFTR) gene in Chinese congenital bilateral absence of the vas deferens (CBAVD) patients. Methods: Exons 2,3,4,5,6a,8,10,11,12,13,15A,17b,19A,20,21 and 23 of CFTR gene were analyzed in 32 CBAVD patients by using PCR single strand conformation polymorphism (SSCP) and direct sequencing. Results: One patient exhibited an abnormal band on SSCP for exon 10 of the CFTR gene and subsequent DNA sequencing showed a 3bp deletion at position 1653~1655 that caused the deletion of a single amino acid, phenyalanine, in codon 508, ΔF508. Another patient was detected a shift mutation in exon 2, a lbp deletion at position 225,225delC. Conclusion: Two CFTR gene mutations, ΔF508 and 225delC, have been detected in CBAVD patients by using PCR SSCP. The method for screening CFTR mutations is viable.更多还原