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目的：探讨无精症病人的发病原因。方法：对4例Y染色体有结构畸变、1例46，XX男性无精症病人及10例正常有生育力的男性用PCR方法进行YRRM1、DYS240基囚的检测。结果：10例有生育力核型正常的男性及2例inv（Y）病人均检出YRRM1和DYS240基因片段，而2例del（Y）病人未能检出YRRM1及DYS240基因片段，但他们的父亲均有正常的染色体及YRRM1和DYS基因片段，46，XX男性经检测证实有SRY基囚的存在而无YRRM1和DYS240基因。结论：以上结果表明，发生在Y染色体长臂异染色质区及短臂末端的倒位不会引起YRRM1、DYS240基因的缺失，而Y染色体长臂q11以远部位的缺失则都有YRRM1和DYS240基因的缺失，是造成无精症的原因。
Objective: To investigate the pathogenesis of patients with azoospermia. Methods: YRRM1 and DYS240 based on 4 Y chromosome chromosome aberrations, 1 case of 46, XX male patients with azoospermia and 10 normal fertile men were detected by PCR. Results: YRRM1 and DYS240 gene fragments were detected in 10 male patients with normal fertility and 2 patients with inv (Y), while 2 patients with del (Y) failed to detect YRRM1 and DYS240 gene fragments, but their My father has normal chromosomes and YRRM1 and DYS gene fragments, 46, XX male confirmed by the presence of SRY-based inmates without YRRM1 and DYS240 genes. Conclusion: The above results indicate that the inversions of the long arm heterochromatin region and the short arm end of Y chromosome do not cause the deletion of YRRM1 and DYS240 genes, but YRRM1 and DYS240 are deleted far from the long arm of Y chromosome q11 Gene loss, is caused by azoospermia.