特发性无精子症和严重少精子症患者DAZ基因缺失的分析

The mocrodeletions analysis of DAZ gene on the Y chromosome in idiopathic azoospermia and severe oligozoospermia.

目的 评估特发性无精子症和严重少精子症患者Y染色体上DAZ基因缺失的发生情况。方法 采用聚合酶链反应技术 (PCR)扩增 33例特发性无精子症和严重少精子症患者DAZ基因中的 4个序列标记位点SY15 4、SY2 5 4、SY2 5 5和SY15 5。 5 0例生育男性为阳性对照组 ,5例女性为阴性对照组。结果 33例特发性无精子症和严重少精子症患者DAZ基因缺失率为 15 2 % ,其中 2 6例特发性无精子症患者有 4例缺失 (15 4 % ) ,1例染色体核型为 4 7,XXY ;7例特发性严重少精子症患者中有 1例缺失 (14 3% )。 4个序列标记位点在阳性对照组中均有条带扩增 ,在阴性对照组中未见条带扩增。结论 特发性无精子症和严重少精子症患者均存在DAZ基因缺失 ,特发性无精子症患者缺失率高于特发性严重少精子症患者 ,与国外报道相一致。聚合酶链反应扩增DAZ基因位点是筛选Y染色体缺失的有效方法。

Objective: To evaluate microdeletions of the DAZ gene on the Y chromosome in patients suffering from idiopathic azoospermia or severe oligozoospermia.Methods: To amplify the genomic DNA of 33 patients suffering from idiopathic azoospermia or severe oligozoospermia patients with DAZ locus primers: SY154,SY254,SY255 and SY155 by PCR. We selected 50 fertile men as positive control and 5 women as negative control .Results: The microdeletion rate of DAZ gene is 15.2% in 33 suffering from idiopathic azoospermia or severe oligozoospermia. Four cases from 26 patients suffering from idiopathic azoospermia, one of which had abnomal chromosome (47,XXY), had microdeletions at the loci sY154,sY254and sY155. The microdeletion rate is 15.4%. One case from 7 patients suffering from severe oligozoospermia had microdeletion at the locus sY155. The microdeletion rate is 14.3%. The four single tagged site markers existed amplified band in positive control and did not exist in negative control.Conclusion: Both idiopathic azoospermia and severe oligozoospermia had DAZ microdeletions on the Y chromosome. The prevalence of DAZ microdeletions in the idiopathic azoospermic group was higher than in the severe oligozoospermic group and was consistent with the prevalence of Yq microdeletions detected in other series of azoospermic men in different geographic areas. Polymerase chain reaction amplification of the DAZ locus is useful for the screening of microdeletions of Y chromosome.