山西地区生精障碍患者染色体核型及Y染色体微缺失分析

Analysis of chromosome karyotype and Y chromosomal microdeletion in Shanxi spermatogenic disorders

目的探讨山西地区Y染色体AZF微缺失、染色体核型分析及性激素水平与男性生精障碍的关系。方法采用聚合酶链反应技术对935例男性不育患者(包括454例无精子症、452例严重少精子症及29例弱精子症患者)的外周血进行Y染色体微缺失检测,同时对其外周血进行染色体核型分析及性激素测定。结果在935例男性不育患者中共检出101例Y染色体微缺失,检出率为10.8%(101/935);染色体核型异常56例,检出率为5.99%(56/935)。其中AZFc区域缺失占总缺失的63.37%(64/101),是最为常见的Y染色体微缺失类型;47,XXY在染色体异常核型中占的比率最大2.46%(23/935)。染色体核型与Y染色体微缺失同时异常的有7例,占总样本的0.75%,而且发现Y染色体微缺失和染色体核型与激素水平都有相关性。结论染色体核型异常和Y染色体微缺失是导致男性不育的主要原因。对于准备行辅助生育的生精障碍患者,有必要将Y染色体微缺失和染色体核型分析作为常规检查,性激素水平可用于辅助检查,为男性不育的临床诊断和治疗提供重要依据。

Objective:To investigate the relationship between chromosome karyotype,Y chromosome microdeletion and sex hormone levels with male spermatogenic disorders in Shanxi. Methods:Multiplex-PCR technique was used to detect Y chromosome microdeletions in 935 male infertility patients(including 454 azoospermia,452 patients with severe oligozoospermia and 29 patients with weak sperm motility). Peripheral blood was obtained to analysis the karyotype and to determine the sex hormone level. Results:In 935 male infertility patients,the abnormal incidences of Y chromosome microdeletions and chromosomal abnormality were 10.8%(101/935),5.99%(56/935). AZFc region deletion was detected in 64 patients(63.37%),which is the most common type of Y chromosome microdeletion. 47,XXY was accounted for the largest ratio in chromosomal abnormalities(2.46%). 7 patients were abnormal both in chromosomes and Y chromosome microdeletion(0.75%),it was found that the Y chromosome microdeletion was highly correlated with hormone levels. In addition,the correlation was dicovered between AZF microdeletion,chromosome karyotype and hormone levels. Conclusion:Abnormal karyotypes and Y chromosome microdeletions are the main causes of male infertility. For patients with spermatogenic disorders who are preparing for assisted reproduction,it is necessary to use Y chromosome microdeletion and karyotype analysis as routine examinations. Sex hormone levels can be used as auxiliary examination,which provides an important basis for clinical diagnosis and treatment of male infertility.