810例严重少(无)精子症患者Y染色体微缺失筛查与分析

Screening for Y chromosomal microdeletions in 810 patients with severe oligozoospermia and azoospermia

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：Screening for Y chromosomal microdeletions in patients with primary azoospermia or severe oligospermia,to explore the clinical relationship between male infertility and of azoospermia factor（AZF） region deletion. Methods：Genome DNA of 810 patients（457 primary azoospermia and 353 severe oligospermia ） were screened by modified multiplex PCR. Results：Out of 810 patients,77 were found with Y chromosome microdeletion,with a rate of 9.5%,of which 31 were oligospermia with the deletion type of AZFc,46 were azoospermia with different deletion type. All the deletion type were： 3 （3.9%） cases in AZFa,2 （2.6%） cases in AZFb,63 （81.82%） cases in AZFc,4 （5.19%） cases in AZFb＋c,5 （6.49%） cases in AZFa＋b＋c. Conclusions：Y chromosome microdeletion is one of the important reasons of primary azoospermia and oligospermia,most of the deletions happens in AZFc region,it is necessary to carry out regular screen for these patients,especially for oligospermia patients who plan to receive assisted reproduction technology.