| 不育男性的AZF检测与Y染色体缺失的对照分析 |
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| 引用本文： | 崔英霞,卢洪涌,史轶超,夏欣一,邵永,姚兵,戈一峰,黄宇烽.不育男性的AZF检测与Y染色体缺失的对照分析[J].中国优生与遗传杂志,2010(1):33-35. |
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| 作者姓名： | 崔英霞 卢洪涌 史轶超 夏欣一 邵永 姚兵 戈一峰 黄宇烽 |
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| 作者单位： | 南京军区南京总医院临床中心实验科; |
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| 摘 要： | 目的探讨精子发生障碍的男性不育患者AZF缺失与Y染色体缺失的临床意义。方法对616例非阻塞性无精子症或少精子症患者进行AZF的检测,同时观察G显带Y染色体的形态。结果从616例患者中检测出48例患者分别为AZFa、AZFb、AZFc或AZFb+AZFc的微缺失,但显微镜下观察不到Y染色体形态改变。另外4例患者经AZF检测,2例为AZFc+sY160缺失,1例为AZFb+AZFc+sY160缺失,1例为AZFa+AZFb+AZFc+sY160缺失,显微镜下发现Yq部分或完全缺失。25例已育男性的G-显带的Y染色体和AZF也进行对照检测,均未发现AZF的缺失,但其中1例核型分析显示Y染色体长臂部分缺失,但PCR检测仅缺失sY160,即Yq12的缺失。结论Yq11.23上7Mb的缺失在细胞水平不能分辨。q11.23+q12的缺失或仅有Yq12的缺失的Y染色体显微镜下不能区分,但后者不是精子发生障碍的病因。对男性不育精子发生障碍患者,要结合细胞遗传学和AZF分子检测综合判断。
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| 关 键 词： | 无精子因子 Y染色体 男性不育 多重PCR |
Detection of microdeletion of AZF and Y chromosomal deletion in male infertility |
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| CUI Ying-xia,LU Hong-yong,SHI Yi-chao,XIA Xin-yi,YAO Bing,GE Yi-feng,HUANG Yu-feng..Detection of microdeletion of AZF and Y chromosomal deletion in male infertility[J].Chinese Journal of Birth Health & Heredity,2010(1):33-35. |
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| Authors: | CUI Ying-xia LU Hong-yong SHI Yi-chao XIA Xin-yi YAO Bing GE Yi-feng HUANG Yu-feng |
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| Institution: | CUI Ying-xia,LU Hong-yong,SHI Yi-chao,XIA Xin-yi,YAO Bing,GE Yi-feng,HUANG Yu-feng.(Institute of Clinical Laboratory Medicine,Department of Clinical Experiment Medicine,Nanjing General Hospital of Nanjing Commond,PLA,Nanjing 210002) |
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| Abstract: | Objectes :To evaluate the clinical significance of kayrotyping associated with AZF microdeletion analysis in male spermatogenic failure.Mothods :A total of 616 infertile patients with non obstructive azoospermatism or oligospermatism and 25 fertile men provided blood samples to detecte microdeletion of AZF and Y chromosomal deletion.Results:Forty-eight of 616 patients were with microdeletions of AZFa,AZFb,AZFc or AZFb+AZFc,respectively.But no visible Y chromosome deletion was found.The other two patients wi... |
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| Keywords: | Azoospermia factor Y chromosome Male infertility Multiplex-PCR |
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