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目的利用Y染色体基因微缺失的检测来明确少精子症、无精子症患者病因。方法采用多重聚合酶链反应技术,针对31例严重少精子症和9例无精子症患者与对照组41名已正常生育的男性,进行AZFa、AZFb、AZFc、3个区域共12个序列标签位点(sequence tag site,STS)的微缺失分析。结果严重少精子症31例中发现Y染色体微缺失6例,无精子症9例中发现Y染色体微缺失3例,而正常对照组41例均未发现Y染色体微缺失。此研究中发现缺失形式有2种,分别是AZFa+AZFb+AZFc区的全缺失和AZFc区的单独缺失。结论Y染色体微缺失与精子发生障碍导致的不育有一定的联系。
Objective To detect the etiology of oligozoospermia and azoospermia using the detection of Y chromosome gene microdeletion. Methods Forty-one male patients with severe oligozoospermia and 9 patients with azoospermia and control group with normal fertility were studied by multiplex polymerase chain reaction (PCR). A total of 12 sequence tags including AZFa, AZFb and AZFc Microdeletion analysis of sequence tag site (STS). The results of severe oligozoospermia found in 31 cases of Y chromosome microdeletions in 6 cases, 9 cases of oligozoospermia found in Y chromosome microdeletion in 3 cases, while the control group of 41 cases were found Y chromosome microdeletions. This study found that there are two types of deletion, AZFa AZFb AZFc total deletion and AZFc deletion of the region alone. Conclusion Y chromosome microdeletions and spermatogenesis disorders caused by a certain relationship between infertility.