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目的 探讨高促卵泡成熟激素 (follicle- stimulating hormone,FSH)无精子症与 Y染色体基因微缺失的关系。方法 采用 PCR技术对 16例高 FSH无精子症患者 Y染色体长臂上 11个序列标记位点进行微缺失的检测。结果 16例高 FSH无精子症不育男性中 6例存在 Y染色体序列标记位点的微缺失 ,缺失率为 37.5 % (6 / 16 ) ,缺失形式有 5种 ,分别为 AZFc(SY15 2 )、AZFc(SY15 2 +SY2 5 4 ) +AZFd(SY15 3)、AZFc(SY15 2 +SY2 5 4 +SY2 5 5 ) +AZFd(SY15 3)、AZFc(SY15 2 +SY15 8+SY2 5 5 ) +AZFd(SY15 3)、AZFb(SY130 ) +AZFc(SY15 8+SY2 5 4 +SY2 5 5 ) +AZFd(SY15 3)。结论 Y染色体微缺失是高FSH无精子症患者的重要原因之一 ,对高 FSH无精子症患者实施辅助生育技术时非常有必要先进行 Y染色体基因微缺失的检测 ,特别是检测 AZFc、AZFd等区域。
Objective To investigate the relationship between follicle-stimulating hormone (FSH) azoospermia and Y chromosome gene microdeletions. Methods PCR was used to detect the microdeletions of 11 sequence markers on the Y chromosome of 16 patients with high FSH azoospermia. Results Sixteen patients with high-FSH azoospermia had microdeletions of Y-chromosome marker loci, with a deletion rate of 37.5% (6/16) and five deletion forms, including AZFc (SY15 2), AZFc (SY15 2 + SY2 5 4) + AZFd (SY15 3), AZFc (SY15 2 + SY2 5 4 + SY2 5 5) + AZFd (SY15 3), AZFc (SY15 2 + SY15 8 + SY2 5 5) + AZFd (SY15 3), AZFb (SY130) + AZFc (SY15 8 + SY2 5 4 + SY2 5 5) + AZFd (SY15 3). Conclusion Y chromosome microdeletion is one of the most important causes of azoospermia in patients with high FSH. It is very necessary to carry out the detection of Y chromosome gene microdeletions in the process of assisted reproductive technology in patients with high FSH azoospermia, especially the detection of AZFc, AZFd, etc. area.