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目的了解无精子症和弱精子症患者染色体核型类型及Y染色体微缺失检测与生精障碍之间的关系。方法对153例原发性无精子症或弱精子症患者进行染色体核型分析和Y微缺失检测。染色体核型分析采用外周血淋巴细胞培养G显带法,Y缺失检测采用多重PCR技术对AZF基因的三个亚区(AZFa,b,c)进行检测。结果在90例无精子症患者中,性染色体异常占21.1%(19/90),常染色体异常占6.67%(6/90),其中47,XXY占的比率最大11.11%(10/90)。63例少精症患者中,性染色体异常占6.35%(4/63),常染色体异常占9.52%(6/63)。Y染色体微缺失检测总共检出10例,检出率为6.53%(10/153),其中AZFc区域缺失最常见。结论染色体核型异常和Y染色体微缺失是导致男性无精子的主要原因之一,对无精子症或弱精子症患者进行染色体和Y染色体微缺失检测对临床有着很好的指导意义。
Objective To understand the relationship between chromosomal karyotypes and detection of Y chromosome microdeletion in patients with azoospermia and asthenospermia and impaired sperm dysfunction. Methods A total of 153 patients with primary azoospermia or asthenospermia were analyzed for chromosomal karyotypes and Y microdeletions. Chromosomal karyotype analysis was performed using peripheral blood lymphocyte culture with G banding, and Y deletion detection. Multiplex PCR was used to detect the three sub-regions of AZF gene (AZFa, b, c). Results Of 90 patients with azoospermia, 21.1% (19/90) had sex chromosome abnormality and 6.67% (6/90) had autosomal abnormality. The ratio of 47 and XXY was the highest (11.11%, 10/90). 63 cases of oligospermia patients, sex chromosome abnormalities accounted for 6.35% (4/63), autosomal abnormalities accounted for 9.52% (6/63). Y chromosome microdeletion test detected a total of 10 cases, the detection rate was 6.53% (10/153), of which AZFc region is the most common deletion. Conclusion Chromosome karyotype abnormality and Y chromosome microdeletions are the main causes of azoospermia in men. It is of great clinical significance to detect chromosomal and Y chromosome microdeletions in patients with or without azoospermia or asthenospermia.