男性不育与基因缺陷-遗传.pdfVIP

HEREDITAS (Beijing) 2010 5 , 32(5): 411―422 ISSN 0253-9772 综述 DOI: 10.3724/SP.J.1005.2010.00411 男性不育与基因缺陷 阮健, 杜卫东 , , 230032 目前全世界约有15%的育龄夫妇不育, 其中男性因素占50% 。男性不育(Male infertility)病因复杂, 许多 内外因素可导致男性不育, 其中生育相关基因缺陷是重要原因之一, 患者临床多表现为无精子症及少弱畸精子 症。文章主要论述了已知基因缺陷与男性不育的关系。 男性不育; 基因缺陷; 突变 Male infertility and gene defects RUAN Jian, DU Wei-Dong Key Lab of Gene Resource Utilization for Severe Hereditary Diseases of Ministry Education Key Lab of Genome Research of Anhui Province, Anhui Medical University , Hefei 230032, China Abstract: About 15% of the couples at reproductive age worldwide suffer from infertility. It is estimated that 50% of the entity result from male itself. The mechanism of male infertility is quite complicated, attributing to inherent and environ- ment factors of the infertility patients, of which defects of fertility-related genes are of importance for its occurrence. The clinical features of male infertility vary from azoospermia to oligoasthenoteratozoospermia. This paper presents the rela- tionship between the known defects in genes and male infertility. Keywords: male infertility; gene defects; mutation (WHO), 1 , , , Y , : (1) , ; (2) , [3] , DNAX ; (3) , , (In vitro fertilization, IVF) (Intracytoplasmic sperm injection, , ( ICSI) )