论文部分内容阅读
目的从遗传学角度分析无精子症、严重少精子症的病因,为临床提供治疗和遗传咨询的依据。方法对335例无精子症、严重少精子症患者采用外周血染色体核型分析和Y染色体AZF区域微缺失联合检测。结果 335例无精子症、严重少精子症患者中,染色体数目异常者29例,占总数8.66%;染色体结构异常6例,占总数1.79%;性反转1例占总数0.30%;AZF区域STS位点缺失6例,占总数1.79%;二项检测异常发生率为12.54%。结论染色体核型分析和Y染色体微缺失是男性无精子症、严重少精子症重要的遗传检测指标。
Objective To analyze the causes of azoospermia and severe oligozoospermia from the perspective of genetics and provide basis for clinical treatment and genetic counseling. Methods A total of 335 cases of azoospermia and severe oligospermia were detected by karyotype analysis of peripheral blood and AZF microdeletion in Y chromosome. Results 335 cases of azoospermia, severe oligospermia in patients with chromosomal abnormalities in 29 cases, accounting for 8.66%; chromosome abnormalities in 6 cases, accounting for a total of 1.79%; 1 case of sexual inversion accounted for a total of 0.30%; AZF STS 6 cases were missing, accounting for 1.79% of the total; the incidence of abnormalities detected by two items was 12.54%. Conclusion Chromosomal karyotype analysis and Y chromosome microdeletions are important genetic markers of azoospermia and severe oligospermia in men.