Donat R, McNeill A S, Fitzpatrick D R, Hargreave T B
Urology Department, Western General Hospital, Edinburgh, UK.
Br J Urol. 1997 Jan;79(1):74-7. doi: 10.1046/j.1464-410x.1997.30816.x.
To examine the incidence of cystic fibrosis transmembrane-conductance regulator (CFTR) gene mutations in Scottish patients with congenital bilateral absence of the vas deferens (CBAVD).
Thirty patients with CBAVD presenting consecutively to the Edinburgh infertility clinic were examined for CFTR gene mutations. All patients were assessed clinically and tested for 15 gene mutations using a single-tube polymerase chain-reaction multiplex system.
All patients were in good health and without clinical evidence of cystic fibrosis. CFTR gene mutations were found in 70% of patients with CBAVD.
CFTR gene-testing and genetic counselling are important in all men with CBAVD.
研究苏格兰先天性双侧输精管缺如（CBAVD）患者中囊性纤维化跨膜传导调节因子（CFTR）基因突变的发生率。
对连续就诊于爱丁堡不育诊所的30例CBAVD患者进行CFTR基因突变检测。所有患者均接受临床评估，并使用单管聚合酶链反应多重系统检测15种基因突变。
所有患者身体健康，无囊性纤维化的临床证据。在70%的CBAVD患者中发现了CFTR基因突变。
对所有CBAVD男性患者进行CFTR基因检测和遗传咨询很重要。
