男性原发不育患者遗传学研究

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。

Genetic study on male patients with infertility

Objective:To find out the genetic basis of male infertility and diagnose AZF gene in Y chromosome among male infertile patients,provide a theoretical basis for carrying out assisted reproductive technology targeting to infertile men.Methods:83 patients with primary azoospermia and oligozoospermia were selected,then lymphocytes culture and chromosomal karyotype analysis in peripheral blood were carried out,multiplexed PCR was used to detect 15 STS loci microdeletion in AZF region of Y chromosome;30 men with ...