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男性不育患者Y染色体AZF基因微缺失检测
引用本文:王田园,肖晓素,江利青.男性不育患者Y染色体AZF基因微缺失检测[J].中国优生与遗传杂志,2010(4):54-55,74.
作者姓名:王田园  肖晓素  江利青
作者单位:北京大学深圳医院检验科遗传室;汕头大学医学院;
基金项目:深圳市科技计划项目(No.200802009)
摘    要:目的探讨原发性无精子症、严重少精子症及少精子症患者与Y染色体无精子因子(azoospermia factor,AZF)区微缺失的关系。方法采用多重PCR方法对对照组192例已正常生育男性和实验组448例男性不育患者进行AZF区域内的15个序列标签位点(STS)的检测。结果对照组未发现AZF基因微缺失,实验组448例患者检测出五种AZF微缺失类型共41例,总缺失率为9.2%(41/448),其中无精子症、严重少精子症和少精子症患者的缺失率分别为12.0%(19/158)、10.8%(17/157)、3.8%(5/133),无精子症和严重少精子症患者Y染色体AZF微缺失率明显高于少精子症组,差别有统计学意义(P〈0.05)。使用15个STS位点进行检测其检出率较利用欧洲男科学会(European Academy of Andrology,EAA)推荐的6个STS位点提高约14%(5/36)。结论AZF微缺失是引起原发性无精子症、严重少精子症和少精子症的重要原因之一;增加STS位点检测数有利于提高AZF微缺失的检出率。

关 键 词:AZF基因  微缺失  STS  男性不育

Screening for microdeletions of AZF gene on Y chromosome in infertile men
WANG Tian-yuan ,JIANG Li-qing ,XIAO Xiao-su..Screening for microdeletions of AZF gene on Y chromosome in infertile men[J].Chinese Journal of Birth Health & Heredity,2010(4):54-55,74.
Authors:WANG Tian-yuan    JIANG Li-qing  XIAO Xiao-su
Institution:WANG Tian-yuan 1,2,JIANG Li-qing 1,XIAO Xiao-su1.(1.Laboratory of Genetics,Laboratory Medicine,Peking University Shenzhen Hospital,Shenzhen,Guangdong,518036,China 2.Medical College of Shantou University,Shantou,515031,China)
Abstract:Objective:To investigate the association among idiopathic azoospermia,severe oligospermia or oligospermia in infertility men and microdeletion of azoospermia factor (AZF) gene on the Y chromosome.Methods:Multiplex-PCR technique was used to detect microdeletions of AZF gene in 448 infertile men and 192 normal male controls with fifteen sequence-tagged sites (STSs).Results:There were no microdeletions in 192 normal male controls but 41 microdeletions in 448 infertile men.The rates of microdeletion were 9.2% (...
Keywords:AZF gene  Mircodeletion  STS  Male infertility  
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