男性不育症患者DAZ基因缺失研究

Study of microdeletion of the DAZ gene in infertile men

为探讨DAZ基因在男性生精过程中的作用及DAZ基因与男性不育症的关系。本文应用多重聚合酶链反应对男性不育症患者DAZ基因进行检测。并结合临床表型进行分析。结果在正常有生育力的男性、精子数正常不育男性、已知原因无精子少精子症患者中皆无DAZ基因缺失 ;在特发性无精子症患者中检测出DAZ缺失 ,缺失比例高达 15 % (5 /34) ,其中无精子症 17% (3/18) ,少精子症 13 % (2 /16 )。提示DAZ基因在生精过程中起重要作用 。

To study the role of DAZ gene in spermatogenesis and relationship between DAZ gene and infertility,DAZ gene in the infertile men were detected by multipolymerase chain reaction.Microdeletions were detected in idiopathic oligo/azoospermic men,while no microdeletions were found in normal fertile men,normospermic infertile men and oligo/azoospermic men with known causes.Microdeletions rate was high up to 15% in idiopathic oligo/azoospermic men and as a whole with 17% in azoospermic men and 13% in oligospermic men respectively.DAZ gene played an important role in pathogenesis of azoospermia and oligospermia with idiopathicity,especially severe oligospermia with a high incidence of DAZ microdeletions.We suggested genetic counselling and genetic screening for patients with idiopathic infertility.