高促卵泡成熟激素无精子症患者Y染色体微缺失检测

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。

Detecting microdeletions of the Y chromosome in patients with high follicle-stimulating hormone azoospermia

Objective To explore the relationship between the patients' high follicle-stimulating hormone(FSH) azoospermia and microdeletions in Y chromosome. Methods Eleven sequence tagged sites(STSs) in Yq were detected by PCR in 16 male patients' high FSH azoospermia. Results Microdeletions were observed in 6 of 16 male patients and the deletion rate was 37.5%(6/16). Five types of microdeletions were detected: AZFc(SY152),AZFc(SY152 SY254) AZFd(SY153),AZFc(SY152 SY254 SY255) AZFd(SY153),AZFc(SY152 SY158 SY255) AZFd(SY153),and AZFb(SY130) AZFc(SY158 SY254 SY255) AZFd(SY153) respectively. Conclusion Microdeletion of Y chromosome was one of the important reasons of the patients' high FSH azoospermia. Before the application of assisted-reproductive technology(ART) to the patients, it is necessary to detect the microdeletions, especially AZFc and AZFd.