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无精子症患者的遗传病因分析
Genetic analysis on patients with azoospermia.
【摘要】 目的 研究染色体异常及Y染色体AZF微缺失与无精子症的关系。方法 采用G显带、C显带技术及多重PCR技术对4 8例无精症患者分别进行了细胞遗传学检查和Y染色体AZF微缺失检测。结果 4 8例无精症患者中发现染色体异常13例;多态5例;AZF微缺失7例。遗传因素引起的无精子症占整个无子精症病因的34%。结论 染色体异常及Y染色体AZF微缺失是引起无精子症的重要原因,在进行无精子症的临床诊断时,遗传因素不可忽视。
【Abstract】 Objective: To investigate the relationship between chromosomal abnormality, AZF microdeletion and azoospermia. Methods: G bingding , C banding and multiplex polymerase chain reaction(PCR) analyses were performed on 48 patients with azoospermia. Results: In the total of 48 cases, 13 were found to have chromosomal abnormality, 5 had karyotype polymorphism,7 showed AZF microdeletions. The ratio caused by genetics is 34%. Conclusion: Chromosomal abnormality and AZF microdeletion on Y chromosome is the important cause of azoospermia. It is very essential to perform the genetic analysis while making clinical diagnosis on azoospermia.
【Key words】 Azoospermia; Chromosomal abnormality; Azoospermia factor; Microdeletion;
- 【文献出处】 中国优生与遗传杂志 ,Chinese Journal of Birth Health & Heredity , 编辑部邮箱 ,2005年04期
- 【分类号】R698.2
- 【被引频次】2
- 【下载频次】71