染色体核型分析和AZF检测在男性不育中的应用
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1.南京医科大学康本医学检验所;2.南京医科大学第一附属医院

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The application of karyotype analysis and detection of azoospermia factor in male infertility
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    摘要:

    目的:通过分析染色体核型和AZF微缺失检测,探讨在男性不育中的应用。方法:通过对2017年1月至2020年6月在南京医科大学第一附属医院生殖医学科就诊的1899例少精子症和非梗阻性无精子症男性不育症患者,进行外周血染色体核型分析和AZF微缺失检测。结果:1899例男性不育症患者检出225例染色体核型异常,染色体核型异常率为11.85%,最常见核型为47,XXY,占41.78%(94/225);AZF微缺失215例,异常率为11.32%,最常见类型为AZFc区缺失,占69.30%(149/215)。结论:通过染色体核型分析和AZF微缺失检测二者结合,应用于临床寻找男性不育症的病因,可以提供更加明确的遗传学诊断。

    Abstract:

    Objective: To explore the clinic value of analysis of karyotype and detection of azoospermia factor (AZF) in male infertility. Method:A retrospective analysis was performed on 1899 male infertility patients due to severe oligospermia and non-obstructive azoospermia who underwent the analysis of karyotype and AZF microdeletions in reproductive medicine center, the first affiliated hospital of Nanjing Medical University during January 2017 to June 2020. Results: 225 of 1899 male patients were abnormal chromosome karyotypes, which account for 11.85%. The most common abnormal chromosome karyotypes was 47,XXY, which account for 41.78% (94/225). The proportion of AZF microdeletions was 11.32% (215/1899) in total patients. AZFc microdeletions was the most common types in AZF microdeletions patients, which account for 69.30% (149/215). Conclusion: Combined karyotype analysis with AZF detection could provide evidence for the etiology of male infertility, which would afford a more definitive genetic diagnosis.

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  • 收稿日期:2020-11-25
  • 最后修改日期:2021-08-12
  • 录用日期:2021-10-29
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