特发性无精或严重少精症患者生精基因微缺失的检测及临床意义

Detection of AZF microdeletion in patients with idiopathic azoospermia or severe oligozoospermia and its clinical significance

目的 :探讨特发性无精或严重少精症生精基因微缺失的检测方法和临床意义。方法 :应用 PCR技术对 4 0例无精或严重少精的不育症患者进行 Y染色体 AZFa、 AZFb和 AZFc基因微缺失的检测。结果 :4例患者(10 % )存在 AZFa基因的微缺失 ,5例患者 (12 .5 % )存在 AZFc基因的微缺失 ,SRY基因 PCR扩增结果均为阳性。阳性对照 (正常已育男性 )均无 AZFa、 AZFb、 AZFc和 SRY基因微缺失 ,阴性对照 (正常女性 )无基因扩增产物。结论 :在男性不育患者中 ,Y染色体 AZFa、AZFb和 AZFc基因微缺失是无精或严重少精症发生原因之一 ,生精基因检测可为正确诊断和合理治疗提供科学依据。

Objective To study the detection methods of azoospermia factor (AZF) microdetection in the patients with idiopathic azoospermia or severe oligozoospermia and its clinical significances. Methods Polymerase chain rection (PCR) technique was used to detect the microdeletions at the AZFa, AZFb, AZFc/DAZ and SRY region of chromosome Y in 40 patients with azoospermia or severe oligozoospermia. Results Four patients(10%) had AZFa microdeletion and 5 patients(12.5%) had AZFc microdeletion. SRY PCR productions were all positive. There were no AZF and SRY microdeletions in normal male genomic DNA of the positive control and PCR productions were not found in female genomic DNA of the negative control. Conclusion The AZFa, AZFb, and AZFc microdeletions on chromosome Y in patients with azoospermia or severe oligozoospermia is one of the causes resulting in male infertility. The detection of AZF microdeletion can provide scientific basis for correct diagnosis and reasonable therapy.