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.

译文

本文综述了囊性纤维化 (CF) 基因突变 (CFTR突变) 与先天性双侧输精管缺如 (CBAVD) 之间的关系。迄今为止,在文献中报道的449人的14.5% 中鉴定了两个CFTR突变,而在另一48.1% 中发现了一个CFTR突变。CBAVD似乎是一种异质遗传疾病,许多病例是轻度的囊性纤维化形式,其他病例与CF没有关系。在患有CBAVD的男性46% 中也发现了5t等位基因,但与囊性纤维化的 “经典” 图片无关。CFTR基因的作用可能超出了输精管的正常发育,可能在精子发生中起作用。CBAVD中CFTR突变的检测在遗传咨询中具有重要意义。如果CBAVD是男性不育的原因,则应向要求显微外科附睾精子抽吸/体外受精的夫妇以及那些患有CF的男人提供CFTR突变筛查。

+1
+2
100研值 100研值 ¥99课程
检索文献一次
下载文献一次

去下载>

成功解锁2个技能,为你点赞

《SCI写作十大必备语法》
解决你的SCI语法难题!

技能熟练度+1

视频课《玩转文献检索》
让你成为检索达人!

恭喜完成新手挑战

手机微信扫一扫,添加好友领取

免费领《Endnote文献管理工具+教程》

微信扫码, 免费领取

手机登录

获取验证码
登录