Song Ning-hong, Wu Hong-fei, Zhang Wei, Hua Li-xin, Zhou Zuo-min, Feng Ning-han, Zhang Jing, Qiao Di, Zhang Jie-xiu
Department of Urology, First Affiliated Hospital, Nanjing Medical University, Nanjing 210029, China.
Zhonghua Yi Xue Za Zhi. 2006 May 30;86(20):1376-80.
To explore the clinical significance of azoospermia factor (AZF) region deletion.
Detection of the Y-link sequence tagged sites in AZF region was conducted by means of 2 multiplex polymerase chain reactions among 80 patients with severe oligozoospermia and 63 patients with azoospermia, totally 143.
Twenty-one cases of microdeletion were found among the 143 infertile patients with a prevalence of 14.7%. PCR analysis showed that deletion of the portions of Yq in 12 of the 62 idiopathic infertility patients, 3 being with severe oligozoospermia and 9 with azoospermia, and in 9 out of the 81 patients with non-idiopathic infertility. PCR analysis of 40 normal fertile men did not detect any abnormality. The results of the microdeletion showed that 1 patient had a microdeletion in the AZFa region with sY84 and sY86 (1/21, 4.8%), 2 patients presented a large deletion involving sY127 and sY143 from AZFb, and sY254 and sY255 from AZFc (1/21, 9.5%). Two patients had the deletions located in AZFb region (2/21, 9.5%), and 16 patients had a deletion on the AZFc region involving the DAZ (deleted in azoospermia) gene (16/21, 76.2%) Among the 21 infertile men 4 showed a testicular cytologic picture of maturation arrest, 6 patients had severe hypospermatogenesis, and 11 had Sertoli cell-only syndrome. There were not significant differences in location and extent of deletions between the patients with idiopathic infertility and those with non-idiopathic infertility.
It is recommended to carry out screening of microdeletion of Y chromosome among the patients with idiopathic and non-idiopathic infertility, especially the candidates for intracytoplasmic sperm injection.
探讨无精子症因子（AZF）区域缺失的临床意义。
采用2种多重聚合酶链反应对80例严重少精子症患者和63例无精子症患者共143例进行AZF区域Y连锁序列标签位点检测。
143例不育患者中发现21例微缺失，发生率为14.7%。PCR分析显示，62例特发性不育患者中有12例Yq部分缺失，其中3例为严重少精子症，9例为无精子症；81例非特发性不育患者中有9例Yq部分缺失。对40例正常有生育能力男性进行PCR分析未发现任何异常。微缺失结果显示，1例患者在AZFa区域存在sY84和sY86微缺失（1/21，4.8%）；2例患者存在大片段缺失，涉及AZFb的sY127和sY143以及AZFc的sY254和sY255（1/21，9.5%）。2例患者的缺失位于AZFb区域（2/21，9.5%），16例患者在AZFc区域存在涉及无精子症缺失（DAZ）基因的缺失（16/21，76.2%）。21例不育男性中，4例表现为睾丸细胞学成熟停滞，6例患者精子发生严重低下，11例为唯支持细胞综合征。特发性不育患者和非特发性不育患者在缺失位置和范围上无显著差异。
建议对特发性和非特发性不育患者，尤其是卵胞浆内单精子注射候选者进行Y染色体微缺失筛查。
