囊性纤维化病是囊性纤维化跨膜转运调节物 (CFTR)基因突变导致的一种常染色体隐性遗传病。先天性双侧输精管缺如患者大部分有CFTR基因突变 ,辅助生殖技术包括卵泡浆内单精子注射技术使先天性双侧输精管缺如所致无精子症患者有生育后代的机会 ,但可将突变的基因遗传给下一代从而增加后代发生囊性纤维化和先天性双侧输精管缺如的危险性。CFTR基因的突变和变异特点具有人种和地域差异性 ,因此研究不同人种和地域人群的CFTR基因突变和多态性及其与先天性双侧输精管缺如发生相关的突变位点 ,有利于疾病诊断 ,评估卵泡浆内单精子注射术的遗传学风险 Cystic fibrosis is a cystic fibrosis transmembrane transport regulator (CFTR) gene mutations lead to an autosomal recessive disease. Most patients with congenital bilateral absence of the vas deferens CFTR gene mutations, assisted reproductive technology, including intracytoplasmic sperm injection of follicles in the absence of congenital bilateral vas deferens caused by azoospermic patients have the opportunity of childbirth, but the mutation can be Gene to the next generation to increase the risk of subsequent cystic fibrosis and congenital absence of bilateral vas deferens. CFTR gene mutation and variation with ethnic and geographical differences, so the study of different ethnic groups and geographic populations of CFTR gene mutations and polymorphisms and congenital absence of bilateral vas deferens associated with the mutation sites, is conducive to Diagnosis of disease to assess the genetic risk of intracytoplasmic sperm injection in follicular fluid