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48例原发性不育患者染色体核型与AZF基因分析
引用本文:习华英,彭剑虹,卢健明.48例原发性不育患者染色体核型与AZF基因分析[J].医学新知杂志,2008,18(5):264-266.
作者姓名:习华英  彭剑虹  卢健明
作者单位:1. 三峡大学仁和医院检验科,湖北宜昌,443000
2. 武汉大学中南医院检验科,湖北武汉,430071
摘    要:目的探讨严重少弱精症和无精症的遗传病因。方法采用外周血染色体G显带,PCR技术以及PAGE电泳,对48例严重少弱精症和无精症患者进行外周血染色体核型分析及无精子症因子(AZF)基因的6个位点分析。结果48例中7例染色体异常,5例AZF基因有微缺失。结论严重少弱精症和无精症的发生与遗传密切相关,对男性不育患者进行治疗前有必要进行染色体核型分析及Y染色体AZF微缺失的检测。

关 键 词:男性不育  严重少弱精症或无精症  染色体核型分析  Y染色体微缺失  AZF基因

Cytogenetic Analysis and AZF Micro-deletion Detection in 48 Cases of Primary Infertility
Xi Huayin,Peng Jianhong,Lu Jianming.Cytogenetic Analysis and AZF Micro-deletion Detection in 48 Cases of Primary Infertility[J].Journal of New Medicine,2008,18(5):264-266.
Authors:Xi Huayin  Peng Jianhong  Lu Jianming
Institution:Xi Huayin, Peng Jianhong, Lu Jianming( 1 Clinical Laboratory Department, Three Gorges University Renhe Hospital, Yichang, 443000 2 Clinical Laboratory Department, Wuhan University Zhongnan Hospital, Wuhan, 430071)
Abstract:Objective To investigate the effect of severe asthenospermia or oligospermia on reproduction,and provide theoretical assistance for clinical treatment of infertility and clinical application of assisted reproduction.Methods We obtained peripheral blood from 48 primary infertility patients,and used chromosomal G-banding for karyotype analysis.We also used PCR and PAGE techniques to analyze 6 locus of the azoospermia factor (AZF) gene on Y chromosome.Results Of the 48 cases of primary infertility,7 showed chromosome abnormalities and 5 showed micro-deletion of AZF gene.Conclusion Genetic factors play an important role in severe aspermia or oligospermia,and cytogenetic analysis and AZF gene micro-deletion detection are necessary prior to treatment of male infertility patients.
Keywords:male infertility  severe asthenospermia/oligospermia and aspermia  karyotype analysis  Y chromosome micro-deletion  AZF gene
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