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目的检测严重少精子症和无精子症患者Y染色体微缺失,探讨严重少精子症和无精子症与Y染色体微缺失的关系。方法对染色体正常的严重少精子症和无精子症患者运用多重PCR技术检测Y染色体AZF基因家族AZFa、AZFb、AZFc三个区域中6个序列标签位点(sequence tagged sites,STS)微缺失,20例精液正常患者作为对照。结果 39例严重少精子症患者中发现5例存在Y染色体微缺失,均为AZFc缺失,缺失率为12.82%。31例无精子症患者中发现6例存在Y染色体微缺失,其中AZFb+AZFc缺失2例,AZFb缺失3例,AZFc缺失1例,缺失率为19.35%。20例精液正常患者Y染色体均未发现微缺失。结论严重少精子症和无精子症与Y染色体微缺失密切相关。
Objective To detect Y chromosome microdeletions in patients with severe oligospermia and azoospermia and to explore the relationship between severe oligospermia and azoospermia and Y chromosome microdeletion. Methods The microdeletions of 6 sequence tagged sites (STS) in AZFa, AZFb and AZFc regions of AZF gene family Y chromosome were detected by multiplex PCR in patients with severe chromosomal oligozoospermia and azoospermia. Cases of normal semen as a control. Results In 39 cases of severe oligospermia, 5 cases were found to have Y chromosome microdeletions, all of which were AZFc deletion with a deletion rate of 12.82%. Among the 31 patients with azoospermia, 6 patients had Y chromosome microdeletions, including 2 AZFb + AZFc deletion, 3 AZFb deletion, 1 AZFc deletion, and a deletion rate of 19.35%. 20 cases of normal semen Y chromosome were not found in microdeletions. Conclusions Serious oligozoospermia and azoospermia are closely related to Y chromosome microdeletion.