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目的筛查原发无精子症与重度少精子症患者Y染色体微缺失情况,探讨Y染色体微缺失与男性不育的关系。方法采用改良多重PCR方法对810例男性不育患者(457例原发无精子症和353例严重少精子症)基因组DNA进行Y染色体微缺失筛查。结果810例患者中发现77例Y染色体微缺失患者,缺失率为9.5%,其中少精子症31例,均为AZFc微缺失,无精子症46例,缺失类型呈多样化。缺失类型包括AZFa微缺失3例(3.90%),AZFb微缺失2例(2.60%),AZFc微缺失63例(81.82%),AZFb+c微缺失4例(5.19%),AZFa+b+c微缺失5例(6.49%)。结论Y染色体微缺失是原发无精子症和少精子症的重要原因之一,AZFc缺失为最常见的缺失类型,对此类患者进行Y染色体微缺失的常规筛查是有必要的,尤其是拟行辅助生殖技术助孕的不育患者。
Objective To screen Y chromosome microdeletions in patients with primary azoospermia and severe oligospermia and to explore the relationship between Y chromosome microdeletions and male infertility. Methods A total of 810 cases of male infertility (457 primary azoospermia and 353 severe oligospermia) genomic DNA were screened for Y-chromosome microdeletion by a modified multiplex PCR. Results Seventy-one patients with Y chromosome microdeletion were found in 810 patients. The deletion rate was 9.5%. Among them, 31 cases were oligozoospermia, all of which were AZFc microdeletions. There were 46 cases without azoospermia, and the types of deletion were diversified. The deletion types included AZFa microdeletion in 3 cases (3.90%), AZFb microdeletion in 2 cases (2.60%), AZFc microdeletion in 63 cases (81.82%), AZFb + c microdeletion in 4 cases (5.19%), AZFa + b + Microdeletions in 5 cases (6.49%). Conclusion Y chromosome microdeletion is one of the most important causes of primary azoospermia and oligospermia. AZFc deletion is the most common type of deletion. It is necessary to screen these patients for routine screening of Y chromosome microdeletions. Especially, Infertility patients who are assisted by assisted reproductive technology.