De Braekeleer M, Férec C
Département des Sciences Humaines, Université du Québec à Chicoutimi, Canada.
Mol Hum Reprod. 1996 Sep;2(9):669-77. doi: 10.1093/molehr/2.9.669.
This paper reviews the relationship between mutations in the cystic fibrosis (CF) gene (CFTR mutations) and congenital bilateral absence of the vas deferens (CBAVD). Two CFTR mutations were identified in 14.5% of the 449 man with CBAVD thus far reported in the literature while one CFTR mutation was found in another 48.1%. CBAVD appears to be a heterogeneous genetic condition, many cases being mild forms of cystic fibrosis, others having no relationship with CF. The 5T allele has also been found in 46% of men with CBAVD, but is not associated by the 'classical' picture of cystic fibrosis. The role of the CFTR gene presumably extends beyond a normal development of the vas deferens, possibly playing a role in spermatogenesis. The detection of CFTR mutations in CBAVD had considerable implications in genetic counselling. Couples requesting microsurgical epididymal sperm aspiration/in-vitro fertilization and those in which the man has CF should be offered CFTR mutations screening if CBAVD is the cause of the male infertility.
本文综述了囊性纤维化（CF）基因中的突变（CFTR突变）与先天性双侧输精管缺如（CBAVD）之间的关系。在文献中迄今报道的449例患有CBAVD的男性中，14.5%被鉴定出有两个CFTR突变，另有48.1%被发现有一个CFTR突变。CBAVD似乎是一种遗传异质性疾病，许多病例是囊性纤维化的轻度形式，其他病例则与CF无关。在46%的患有CBAVD的男性中也发现了5T等位基因，但它与囊性纤维化的“经典”表现无关。CFTR基因的作用可能超出了输精管的正常发育，可能在精子发生中发挥作用。在CBAVD中检测CFTR突变对遗传咨询有重大意义。如果CBAVD是男性不育的原因，对于要求进行显微外科附睾精子抽吸/体外受精的夫妇以及男性患有CF的夫妇，应提供CFTR突变筛查。
