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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 assess the occurrence of DAZ gene deletion on Y chromosome in patients with idiopathic azoospermia and severe oligospermia. Methods SY15 4, SY2 5 4, SY2 5 5 and SY15 5 in DAZ gene of 33 cases of idiopathic azoospermia and severe oligospermia were amplified by polymerase chain reaction (PCR). Fifty male fertility cases were positive control group and five female negative control group. Results The deletion rate of DAZ gene was 33.2% in 33 cases of idiopathic azoospermia and severe oligospermia. Among them, 4 cases of idiopathic azoospermia were missing (15 4%), 1 case of chromosome karyotype 4 7, XXY; one of seven patients with idiopathic severe oligospermia was missing (14.3%). Four sequence marker sites showed band amplification in the positive control group and no band amplification in the negative control group. Conclusions The deletion of DAZ gene in patients with idiopathic azoospermia and severe oligospermia is higher than that in patients with idiopathic azoospermia, which is consistent with those reported in foreign countries. Polymerase chain reaction amplification of DAZ gene locus is an effective method to screen Y chromosome deletion.