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目的探讨男性不育患者Y染色体微缺失检测的临床意义。方法应用两个多重聚合酶链反应技术对南京医科大学第一附属医院2003年7月—2005年3月收治的143例严重少精子和无精子的不育患者(严重少精子症80例、无精子症63例)进行Y染色体微缺失检测。结果在143例患者中,我们发现21例(21/143,14·7%)微缺失,其中特发性不育患者12例(严重少精子症3例、无精子症9例),非特发性不育患者9例(严重少精子症3例、无精子症6例)。21例微缺失患者中,1例位于AZFa区,2例位于AZFb+AZFc区,2例位于AZFb区,16例位于AZFc区。21例微缺失患者中,4例睾丸病理显示为成熟阻滞,6例为严重精子发生低下,11例为唯支持细胞综合征。在特发性和非特发性患者中AZF微缺失发生的位置和范围差异无统计学意义。结论建议对特发性不育和非特发性不育患者,特别是那些寻求卵胞内精子注射治疗的患者,都应进行Y染色体微缺失的检测。
Objective To investigate the clinical significance of detection of Y chromosome microdeletions in male infertility patients. Methods Two multiplex polymerase chain reaction (PCR) techniques were used to screen 143 infertile patients with severe oligozoospermia and azoospermia (80 cases of severe oligospermia, none of which were admitted to the First Affiliated Hospital of Nanjing Medical University from July 2003 to March 2005, 63 cases of sperm disease) Y chromosome microdeletion test. Results In 143 patients, we found 21 (21 / 143,14.7%) microdeletions, including 12 cases of idiopathic infertility (3 cases of severe oligospermia and 9 cases of azoospermia) 9 cases of infertility patients (3 cases of severe oligospermia, azoospermia in 6 cases). Of the 21 patients with microdeletions, one was located in the AZFa region, two were in the AZFb + AZFc region, two were in the AZFb region and 16 were in the AZFc region. Among the 21 patients with microdeletions, pathologic examination of 4 cases showed mature block, 6 cases had severe spermatogenesis, and 11 cases were only supportive cell syndrome. There was no significant difference in the location and extent of AZF microdeletions between idiopathic and non-idiopathic patients. Conclusion It is recommended that patients with Idiopathic and non-idiopathic infertility, especially those seeking intracytoplasmic sperm injection, be tested for Y-chromosome microdeletions.