原发性无精症及少精症患者遗传学病因分析  

Analysis of Genetic Factors of Patients with Idiopathic Azoospermia and Oligospermia

作　　者：谢婷婷[1] 王世君[2] 

机构地区：[1]贵州医科大学临床检验学教研室,贵州贵阳550004 [2]贵州医科大学附院临检科,贵州贵阳550004

出　　处：《贵阳医学院学报》2015年第11期1176-1178,1183,共4页Journal of Guiyang Medical College

基　　金：高等学校特色专业建设点[教高函(201015)号];贵州省实验教学示范中心[黔教高发(2010167)号]

摘　　要：目的:了解染色体核型异常和Y染色体微缺失与精子生成障碍的关系。方法:87例原发性无精子症或少精子症患者,45例行外周血染色体核型分析,42例行Y染色体微缺失多重PCR筛查,以精液常规检查显示正常男性的外周血作为对照,探讨染色体核型异常和Y染色体微缺失与精子生成障碍的关系。结果:45例原发性无精子症或少精子症患者中,外周血染色体核型异常17例(37.8%),无精子症患者中有13例,占56.5%;少精子症患者中有4例,占18.2%;对照中发现染色体核型异常8例(16.0%),原发性无精子症或少精子症患者染色体异常检出率显著高于对照(P<0.05);42例原发性无精子症或少精子症患者中Y染色体微缺失多重PCR筛查显示5例(11.9%)有Y染色体STS位点的缺失,3例发现染色体核型异常,对照组未检出Y染色体STS位点缺失。结论:染色体畸变和Y染色体微缺失可能是男性精子生成障碍的重要原因之一。Objective： To investigate the relationship between chromosome aberrations and Y chromosome microdeletions and spermatogenesis failure. Methods： Eighty-seven cases of patients with idiopathic azoospermia and oligospermia were enrolled in this study,of whom 45 cases underwent chromosome karyotype analysis of peripheral blood and 42 cases underwent Y chromosome microdeletion by multiple PCR screening. Compared with indexes of peripheral blood of normal male,the relationship between chromosome aberrations and Y chromosome microdeletions and spermatogenesis failure were explored. Results： In the 45 patients with idiopathic azoospermia and oligospermi,17 cases（ 37. 8%）were found with chromosome abnormalities,of which there were 13 cases（ 56. 5%） in patients with azoospermia and 4 cases（ 18. 2%） in patients with oligospermia. In normal control group,8 cases of chromosome aberrations were found（ 16. 0%）,and chromosome abnormality detection rate in patients with idiopathic azoospermia and oligospermia was significantly higher than that of normal control group.In the 42 patients with idiopathic azoospermia and oligospermia,5 cases（ 11. 9%） were found with Y chromosome microdeletions by multiple PCR screening. Conclussion： Chromosome aberration and Ychromosome microdeletion may be one of the reasons of male spermatogenic defects.

关 键 词：不育 男性 染色体畸变 序列缺失 AZF Y染色体微缺失 

分 类 号：R698.2[医药卫生—泌尿科学]