Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens
Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens
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DOI：
10.1093/molehr/2.9.669
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发表时间：
1996-09-01
影响因子：
4
通讯作者：
Ferec, Claude
中科院分区：
文献类型：
--
作者：
De Braekeleer, Marc;Ferec, Claude
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失（CBAVD）的关系。迄今为止文献报道的449名ccbvd患者中，14.5%的人发现了两个CFTR突变，而另48.1%的人发现了一个CFTR突变。cavd似乎是一种异质性遗传疾病，许多病例是轻度囊性纤维化，其他病例与CF无关。在46%的cavd患者中也发现了5T等位基因，但与囊性纤维化的“经典”图像无关。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。cavd中CFTR突变的检测对遗传咨询具有相当大的意义。如果ccbvd是男性不育的原因，要求显微手术附睾精子抽吸/体外受精的夫妇和男性患有CF的夫妇应进行CFTR突变筛查。
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 men 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.