The prevalence of azoospermia factor microdeletion on the Y chromosome of Chinese infertile men detected by multi-analyte suspension array technology

瞄准：开发高产量的复合、快、简单的试金扫描精子缺乏因素(AZF ) 区域 Y 染色体上的微删除并且建立 Y chromosomal 的流行在有精子缺乏或 oligozoospermia 的中国不肥沃的男性的微删除。方法：总共，有精子缺乏的 178 个不肥沃的病人(非妨碍) ，有 oligozoospermia 的 134 个不肥沃的病人以及 40 肥沃的人控制在现在的学习被包括。样品为 AZF 微删除使用被屏蔽优化 multi-analyte 暂停数组(MASA ) 技术。结果：312 个病人，(11.5%) 36 被发现在 AZF 区域有删除。微删除频率是 14%(25/178 ) 在精子缺乏组织，(11/134 )8.2% 在 oligospermia 组织。在有微删除的 36 个病人之中， 19 在 AZFb 在 AZFc 区域，在 AZFa 的七有的删除和六有的删除有删除。另外，四个病人有 AZFb 和 AZFc 删除。在 AZF 区域的删除都没在 40 肥沃的控制被发现。结论：有 Y chromosomal 的高流行在有精子缺乏或 oligozoospermia 的中国不肥沃的男性的微删除。MASA 技术，在现在的学习被建立了，为检测 Y 染色体的删除提供一个敏感、高产量的方法。并且结果建议基因屏蔽应该在开始帮助繁殖治疗前被劝告到不肥沃的人。

Aim： To develop a high-throughput multiplex, fast and simple assay to scan azoospermia factor （AZF） region microdeletions on the Y chromosome and establish the prevalence of Y chromosomal microdeletions in Chinese infertile males with azoospermia or oligozoospermia. Methods： In total, 178 infertile patients with azoospermia （nonobstructed）, 134 infertile patients with oligozoospermia as well as 40 fertile man controls were included in the present study. The samples were screened for AZF microdeletion using optimized multi-analyte suspension array （MASA） technology. Results： Of the 312 patients, 36 （11.5%） were found to have deletions in the AZF region. The rnicrodeletion frequency was 14% （25/178） in the azoospermia group and 8.2% （11/134） in the oligospermia group. Among 36 patients with microdeletions, 19 had deletions in the AZFc region, seven had deletions in AZFa and six had deletions in AZFb. In addition, four patients had both AZFb and AZFc deletions. No deletion in the AZF region was found in the 40 fertile controls. Conclusion： There is a high prevalence of Y chromosomal microdeletions in Chinese infertile males with azoospermia or oligozoospermia. The MASA technology, which has been established in the present study, provides a sensitive and high-throughput method for detecting the deletion of the Y chromosome. And the results suggest that genetic screening should be advised to infertile men before starting assisted reproductive treatments.