CFTR基因在先天性双侧输精管缺如中的研究进展

摘要

先天性双侧输精管缺如(congenital bilateral absence of the vas deferens,CBAVD)目前认为主要由囊性纤维化跨膜转导子(cystic fibrosis transmembrane conductance regulator,CFTR)基因变异导致,在欧美国家CFTR基因变异检测已经用于胚胎植入前遗传学诊断,以避免子代发生CBAVD或携带CFTR变异基因.但是该基因变异类型繁多,与种族密切相关,差异巨大.现将CFTR基因在CBAVD中的研究进展综述如下.%congenital bilateral absence of the vas deferens (CBAVD) is mainly caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene variations.The detection of CFTR variations have been used for preimplantation genetic diagnosis in western countries for avoiding CBAVD happened in offspring or carrying CFTR gene mutations.However,there are numerous kinds of variations in CFTR gene and they are closely related to race.Now we review the literature of CFTR gene progress in CBAVD as follow.