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目的:寻找男性不育的遗传学依据并对男性不育患者Y染色体AZF基因进行诊断,为开展针对男性不育的辅助生殖技术提供理论依据。方法:对83例原发性无精子症及少精子症患者进行外周血淋巴细胞培养及染色体核型分析,同时采用多重PCR的方法进行Y染色体AZF区15个STS位点微缺失检测,并以30例正常生育男性为对照。结果:13例患者存在染色体异常,其中7例为无精子症,占53.8%(7/13),6例为少精子症,占46.2%(6/13),且1例存在AZFb+AZFc的微缺失。在70例染色体核型正常的无精子症和少精子症患者中8例存在AZF基因的微缺失,2例存在AZFa的微缺失,缺失构成比为25.0%(2/8);1例存在AZFb的微缺失,缺失构成比为12.5%(1/8);2例存在AZFc的微缺失,缺失构成比为25.0%(2/8);1例存在AZFb+AZFc的微缺失,缺失构成比为12.5%(1/8);1例存在AZFb+AZFc+AZFd的微缺失,缺失构成比为12.5%(1/8);1例存在AZFa+AZFb+AZFc的微缺失,缺失构成比为12.5%(1/8)。正常男性对照组染色体核型均正常并且不存在AZF基因的微缺失。实验组与正常男性对照组比较Y染色体AZF区域的微缺失率差异有统计学意义(P<0.05)。结论:男性染色体异常及Y染色体AZF区域的微缺失与男性原发性无精子症和少精子症密切相关。
OBJECTIVE: To search for the genetic basis of male infertility and to diagnose the Y chromosome AZF gene in male infertility patients, and to provide a theoretical basis for carrying out assisted reproductive technology for male infertility. Methods: 83 cases of primary azoospermia and oligospermia patients were cultured in peripheral blood lymphocytes and chromosome karyotype analysis. Multiplex PCR method was used to detect the deletion of 15 STS loci in Y chromosome AZF region. 30 cases of normal fertility as a control. RESULTS: Thirteen patients had chromosomal abnormalities, of which 7 were azoospermia, accounting for 53.8% (7/13), 6 as oligospermatism (46.2%, 6/13), and 1 had AZFb + AZFc Micro missing. In 70 cases of azoospermia and oligospermia patients with normal karyotype, 8 cases had AZF microdeletions, 2 cases had AZFa microdeletions, the deletion ratio was 25.0% (2/8); 1 cases had AZFb , The deletion ratio was 12.5% (1/8). Two cases had AZFc microdeletions, the deletion ratio was 25.0% (2/8). There was a microdeletion of AZFb + AZFc in one case, the deletion ratio was (1/8). There was a microdeletion of AZFb + AZFc + AZFd in 1 case, with a loss ratio of 12.5% (1/8). One case had a microdeletion of AZFa + AZFb + AZFc with a deletion ratio of 12.5% (1/8). The normal male controls had normal karyotypes and no deletions of the AZF gene. There was a significant difference in the rate of microdeletions between the experimental group and the normal male control group (P <0.05). Conclusion: Male chromosomal abnormalities and microdeletion of AZF in Y chromosome are closely related to male primary azoospermia and oligospermia.