钦州地区无精子弱精子症患者染色体核型异常和Y染色体微缺失

Chromosomal abnormalities and Y chromosome microdeletions analysis in patients with azoospermia or oligozoospermia in Qinzhou

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 investigate the relationship between chromosome aberrations and Y chromosome microdeletions and spermatogenesis failure. Methods：One hundred and fifty-three cases of patients with idiopathic azoospermia and oligospermia were enrolled in this study. Conventional G banding techniques were used to conduct the karyotyping analysis after culturing lymphocytes from the peripheral blood and multiplex PCR was performed to detect AZF microdeletion in three AZF sub-regions. Results：Abnormal chromosome karyotype and Y chromosome microdeletions are the keys cause of male no refined,chromosome and Y chromosome detection has a good guiding for patients with azoospermia and oligospermia on clinical.