陕西地区不明原因无精子症和少精子症患者Y染色体长臂微缺失分析

目的: 评估陕西地区不明原因无精子症和少精子症不育男性患者Y染色体长臂微缺失的频率,探讨精子密度与Y染色体微缺失发生率的相关性。　方法: 以Y染色体特异性无精子症因子区STS AZFa、AZFb、AZFc和SRY4个基因 5个片段设计引物,采用PCR方法对 64例无精子症和少精子症患者以及 20例正常生育男性进行微缺失检测,并比较不同精子密度患者Y染色体微缺失的发生率。　结果: 20例精子密度正常的生育男性未检出Y染色体微缺失,而 64例特发性无精子症 /少精子症患者AZFc区的缺失率为17. 2% (11 /64),AZFc和AZFb联合缺失 1例,未发现AZFa区缺失,SRY基因均为阳性。其中无精子症组缺失率为21. 43% ( 3 /14 );精子密度 <1×106 /ml组,缺失率为 20. 0% (2 /10);精子密度 (1 ~5)×106 /ml组缺失率为17. 9% (5 /28);精子密度 (5 ~10 )×106 /ml组缺失率为8. 3% (1 /12)。各组缺失率经卡方检验差异有显著性 (χ2 =70. 144,P<0. 005 )。　结论: 无精子症和少精子症不育患者Y染色体AZFc缺失率明显较高,PCR扩增AZF基因是诊断Y染色体微缺失的简单方法。

Analysis of Yq Microdeletions in Idiopathic Infertile Males with Azoospermia and Oligospermia in Shaanxi Province

OBJECTIVE: To evaluate the frequency of microdeletions in the long arm of Y chromosome of idiopathic infertile males with azoospermia and oligospermia in Shaanxi province in China and to investigate the relevance of sperm count to Y microdeletion frequencies. METHODS: According to the sequence of sequence-tagged sits (STS) AZFa, AZFb, AZFc and SRY, 4 of the azoospermic factor regions on Y chromosome long-term supplied by GenBank, 5 sets of primers were synthesized. The Y microdeletions in AZF regions were screened by polymerase chain reaction (PCR) in 64 idiopathic cases of azoospermia and oligospermia and 20 men of known fertility. RESULTS: No microdeletion was detected in the 20 normospermic subjects. Deletion of the AZFc/DAZ was detected in 11 individuals and one patient had both AZFb and AZFc deletion; no deletion of AZFa and SRY region was found. The frequency of Y microdeletions in the subgroups with different sperm count showed the highest value among azoospermic men (3 cases, 21.4%). The percentage progressively decreased with the deletion frequency (20.0%, 17.9% and 8.3%) in the subgroups with sperm counts of < 1 x 10(6)/ml, < (1-5) x 10(6)/ml and < (1 to approximately 10) x 10(6)/ml, respectively. CONCLUSION: Y chromosome microdeletions are specifically associated with severe spermatogenic failure. The rate of deletion involving AZF region of the Y-chromosome is higher in infertile men with azoospermia and oligospermia. PCR amplification of AZF locus is useful for the diagnosis of microdeletions in the Y-chromosome.