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目的建立Y染色体无精子因子(azoospermia factor,AZF)微缺失分子诊断的方法。方法实验组选择122例无精子症及少精子症患者,对照组90例为具有正常生育能力的已婚男性。按照欧洲男科协会(EAA)和欧洲分子遗传实验质控网(EMQN)指南选择Y染色体序列标签点和设计引物。取受试者外周血,抽提DNA,进行多重PCR,筛查AZFa、b、c区域的微缺失。结果采用2组多重PCR,122例生精障碍患者中发现YqAZF微缺失13例(10.06%),共5种缺失类型,其中AZFa1例,AZFb1例,AZFc8例,AZFbc2例,AZFabc1例。对照组90例未发现微缺失。两组结果经统计学分析,差异有显著意义(P<0.01)。结论EAA和EMQN推荐的指南对Y染色体AZF微缺失筛查有指导作用。无精子症及少精子症患者选择辅助生殖技术生育子代之前,进行Y染色体AZF微缺失的分子遗传学筛查应为常规检查项目。
Objective To establish a method for molecular diagnosis of azoospermia factor (AZF) microdeletion in Y chromosome. Methods A total of 122 patients with azoospermia and oligospermia were selected as experimental group and 90 as control group with normal fertility. The Y chromosome sequence tags were designed and primers were designed according to the European Association for the Advancement of Men (EAA) and the European Molecular Genetic Experiment Quality Control Network (EMQN) guidelines. Peripheral blood was taken from the subjects, DNA was extracted and multiplexed PCR was performed to screen for microdeletions in the AZFa, b, c regions. Results There were 5 deletion types of YqAZF microdeletions in 122 patients with dysbacteriosis, including 1 AZFa, 1 AZFb, 8 AZFc, 2 AZFbc and 1 AZFabc. 90 cases in the control group did not find microdeletions. The two groups of results by statistical analysis, the difference was significant (P <0.01). Conclusions The guidelines recommended by EAA and EMQN are instrumental in the screening of Y chromosome AZF microdeletions. Azoospermia and oligospermia patients choose assisted reproductive technology before childbirth, the Y chromosome AZF microdeletion molecular genetic screening should be routine inspection items.