国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2010, Vol. 29 ›› Issue (5): 353-356.

• 综述 • 上一篇    下一篇

囊性纤维化跨膜传导因子基因与男性不育

罗方野,蔡霞   

  1. 830054乌鲁木齐，新疆医科大学第一附属医院生殖 助孕中心
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2010-09-15 发布日期:2010-09-15

Research Progress of Cystic Fibrosis Transmembrane Conductance Regulator Gene and Male Infertility

LUO Fang-ye，CAI Xia.   

  1. Reproductive Center of the First Affiliated Hospital of Xinjiang Medical University， Urumqi 830054，China
  • Received:1900-01-01 Revised:1900-01-01 Published:2010-09-15 Online:2010-09-15

PDF (PC)

7293

摘要： 囊性纤维化（cystic fibrosis，CF）是白种人的一种常见致命性常染色体隐性遗传病，由囊
性纤维化跨膜传导因子(cystic fibrosis transmembrane conductance regulator，CFTR）基因突变所致。CFTR 基
因突变在男性不育中多表现为先天性双侧输精管缺如、单侧输精管缺如和精子质量低下。卵胞浆内单精
子注射（ICSI）技术使囊性纤维化患者有了生育后代的机会，但同时可能将突变的基因遗传给下一代。因
此，胚胎植入前的遗传学诊断与遗传学风险评估非常重要，应该避免将有基因突变的胚胎植入母体子宫，
提高生育质量。

关键词: 囊性纤维化跨膜传导调节因子, 基因, 不育, 男（雄）性, 囊性纤维化, 植入前诊断

Abstract: Cystic fibrosis（CF）is a very common and deadly euchromosome recessive genetic disease
among white people. It is a kind of genetic disease caused by cystic fibrosis transmembrane conductance
regulator’s (CFTR) genic mutation. Cystic fibrosis transmembrane conductance regulator’s genic mutation often
shows with congenital bilateral absence of the vas deferens (CBAVD)，congenital unilateral absence of the vas
deferens (CUAVD) and the low quality of sperm in male infertility. Intracytoplasmic sperm injection technique
gives those patients the chance of producing generations but it can also inherit their generations with mutation
gene preimplantation genetic diagnosis （PGD）and genetic risk analysis can avoid a embryo with genetic
mutation to plant in uterus and improve the quality of fertility.

Key words: Cystic fibrosis transmembrane conductance regulator, Genes, Infertility, male, Cystic fibrosis, Preimplantation diagnosis