精子发生障碍患者Y染色体AZF区微缺失的筛查及意义

Screening for microdeletions of AZF region of Y chromosome in patients with spermatogenetic malfunction and its significance

目的 探讨精子发生障碍患者Y染色体AZF区微缺失情况及意义。 方法 选取 6个Y染色体特异性序列标签位点 (STS) ,用PCR技术检测 2 7例精子发生障碍患者AZF区微缺失情况。 结果 2 7例中AZF区微缺失 2例 ,表现为无精症。缺失均在AZFc区 ,1例为DAZ(sY2 5 4、sY2 5 5 )缺失 ,另 1例为DAZ加sY15 7缺失。 结论 与其他人种一样 ,Y染色体AZF区微缺失也可能是中国人精子发生障碍的原因之一 ,因而精子发生障碍患者在行辅助生育技术前进行AZF区微缺失的筛查是必要的。

Objective To investigate the condition of microdeletions of AZF region of the Y chromosome in Chinese patients with spermatogenetic malfunction. Methods Six Y chromosome specific sequence-tagged-sites(STS) in AZF region were screened and the microdeletions were determined by PCR in 27 patients with spermatogenetic malfunction. Results Microdeletions in genomic DNA were observed in 2 cases who presented with azoospermia and limited to AZFc subregion.The total deletion rate was 7.4%.The deletion patterns of the 2 cases were DAZ(sY254,sY255) and DAZ plus sY157,respectively. Conclusions Like other races, microdeletions of the Y chromosome in Chinese people may be one of the causes of spermatogenetic malfunction.Therefore prior to assistant reproduction,screening for microdeletions of the Y chromosome in patients with spermatogenetic malfunction is necessary.