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目的从遗传学角度分析男性生精障碍的病因,为临床提供治疗和遗传咨询的依据。方法通过抽取外周血,进行淋巴细胞培养和多重PCR方法对773例男性生精障碍患者进行染色体核型分析和Y染色体AZF区域微缺失检测。结果染色体数目异常者59例,占总数7.63%;染色体结构异常30例,占总数3.88%;性反转2例,占总数0.26%;染色体正常变异118例,占总数15.27%;AZF区域STS位点缺失23例,占总数2.98%;二项检测异常总发生率为14.75%。结论染色体异常和Y染色体AZF区域微缺失是男性生精障碍的重要因素之一,可以更好的为男性不育症患者提供病因诊断、遗传咨询和治疗方案的选择。
Objective To analyze the etiology of male spermatogenesis disorder from the perspective of genetics and provide basis for clinical treatment and genetic counseling. Methods Totally 773 cases of spermatogenic disorders were analyzed by peripheral blood, lymphocyte culture and multiplex PCR for the detection of karyotype and Y-chromosome AZF microdeletion. Results The number of chromosomal abnormalities in 59 cases, accounting for 7.63%; chromosomal abnormalities in 30 cases, accounting for 3.88%; 2 cases of sexual inversion, accounting for a total of 0.26%; 118 cases of chromosomal aberrations, accounting for 15.27% of the total; AZF STS 23 cases were missing, accounting for 2.98% of the total. The total incidence of the two abnormalities was 14.75%. Conclusions Chromosomal aberrations and microdeletion of AZF region in Y chromosome are one of the important factors of spermatogenesis in male and provide a better choice for etiological diagnosis, genetic counseling and treatment of male infertility.