ICSI治疗前无精子症患者Y染色体微缺失的筛查分析

Screening of the Microdeletions in the Y Chromosome of Azoospermia Men Before ICSI Treatment

目的 研究ICSI治疗前无精子症患者Y染色体微缺失发生率及微缺失类型,探讨精子生成障碍与Y染色体微缺失的关系.方法 应用PCR技术,对63例ICSI前行诊断性睾丸活检的无精子症患者进行Y染色体15个序列标记位点的微缺失检测.结果 63例无精子症患者中发现12例有Y染色体微缺失,缺失率为19.1%.其中10例患者的缺失发生在AZFc/DAZ区域,缺失率为15.8%;2例患者发生AZFb、AZFc双重缺失,缺失率为3.2%,AZFa无缺失病例.结论 Y染色体微缺失是引起男性无精子症的重要原因之一.采用PCR技术进行微缺失检测是一种非常有效的方法.对无精子症患者进行ICSI治疗前,有必要进行Y染色体的微缺失筛查.

ObjectiveTo study the Y-Chromosome microdeletion rate and type in azoospermia men before ICSI treatment and hence to assess the relationship between spermatogenic defects and Y-chromosome microdeletion.Methods15 Y-linked sequence tag sites(STS) were screened by means of PCR in 63 azoospermia men undergoing testicular diagnostic biopsy before ICSI treatment.ResultsA total of 12 (19.1%) cases of microdeletions were found in 63 azoospermia patients. 10 (15.8%) cases were involved in AZFc/DAZ microdeletions, 2 (3.2%) cases were involved in AZFb and AZFc, and no patients were involved in AZFa.ConclusionY-chromosome microdeltions is an important reason of azoospermia. PCR is a useful technique for detecting microdeletions. Screening of Y-chromosome microdeletions for azoospermia patients before ICSI treatment is essential.