先天性单侧输精管缺如患者CFTR基因突变研究

目的 探讨囊性纤维跨膜转运调节物（ｃｙｓｔｉｃ ｆｉｂｒｏｓｉｓ ｔｒａｎｓｍｅｍｂｒａｎｅ ｃｏｎｄｕｃｔａｎｃｅ ｒｅｇｕｌａｔｏｒ，ＣＦＴＲ）基因在中国人先天性单侧输精管缺如（ｃｏｎｇｅｎｉｔａｌ ｕｎｉｌａｔｅｒａｌ ａｓｅｎｃｅｏｆ ｔｈｅ ｖａｓ ｄｅｆｅｒｅｎｓ，ＣＵＡＶＤ）患者中的突变频率及热点。方法 应用聚合酶反应－单链构象多态（ＰＣＲ－ＳＳＣＰ）、３银染技术及ＰＣＲ产物直接序

Study of CFTR gene mutation in Chinese CUAVD patients

Objective To analyze the frequency and hot spots of cystic fibrosis transmembrane conductance regulator(CFTR) gene in Chinese congenital unilateral absence of the vas deferens (CUAVD) patients. Methods The mutation of CFTR exons 2, 3, 4, 5, 6a, 8, 10, 11, 12, 13, 15A, 17b, 19A, 20, 21, and 23 were detected. PCR single strand conformation polymorphism(SSCP) and direct sequencing were performed on 15 cases of Chinese CUAVD. Results One case exhibited an abnormal shift SSCP band in exon 17b of CFTR gene and subsequent DNA sequencing showed C to A transversion at position 3295 that led to a predicted change of Leusine(codon 1055, CTT) to Isoleucine(codon ATT). Conclusion CFTR mutation could be detected in Chinese CUAVD patients. The missense mutation, Leu1055Ile, was identified as a novel CFTR mutation. It is necessary that Chinese CUAVD patients and their wives should be screened for CFTR gene prior to intracytoplasmic sperm injection.