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目的:探讨男性精子生成障碍与染色体核型异常和Y染色体无精子因子(AZF)微缺失的相关性,为拟行IC-SI(intracytoplasmic sperm injection,ICSI)技术助孕的患者提供遗传咨询。方法:运用多重PCR检测技术,对333例男性精子生成障碍患者(242例无精子症和91例严重少精子症)Y染色体AZF区域9个序列标签位点(STS)进行扩增分析;并运用G显带技术,对患者外周血染色体核型进行分析。结果:精子生成障碍患者AZF缺失发生率为11.11%(37/333),其中无精子症组缺失率为10.33%(25/242),严重少精子症组缺失率为13.19%(12/91);外周血染色体核型分析发现染色体异常检出率为8.11%(27/333);患者总遗传缺陷发生率为19.22%。结论:染色体核型异常和Y染色体微缺失是导致无精子症和严重少精子症的重要遗传因素;在行辅助生殖治疗前,患者须行遗传学检查以避免有遗传缺陷的后代出生。
Objective: To investigate the relationship between male spermatogenesis disorder and chromosomal abnormalities and Y chromosome loss of azoospermia (AZF) microdeletions. To provide genetic counseling for patients with ICSI (ICSI) assisted pregnancy. METHODS: Nine sequence-tagging sites (STS) of AZF region in 333 cases of male spermatogenesis (242 cases of azoospermia and 91 cases of severe oligospermia) were amplified by multiplex PCR. G-banding technique to analyze the karyotypes of peripheral blood in patients. Results: The incidence of AZF deletion was 11.11% (37/333) in patients with spermatogenesis disorder, including 10.33% (25/242) in azoospermia group and 13.19% (12/91) in severe oligozoospermia group The chromosomal karyotype analysis showed that the detection rate of chromosomal abnormalities was 8.11% (27/333). The incidence of total genetic defects in patients was 19.22%. CONCLUSIONS: Chromosomal abnormalities and Y chromosome microdeletions are important genetic factors that contribute to azoospermia and severe oligospermia. Before assisted reproductive therapy, patients should undergo genetic tests to prevent the birth of offspring with genetic defects.