| 应用甲基化特异性多重连接依赖性探针扩增和甲基化特异性PCR检测Prader-Willi综合征 |
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| 引用本文： | 欧展辉,梁雄,孙筱放.应用甲基化特异性多重连接依赖性探针扩增和甲基化特异性PCR检测Prader-Willi综合征[J].中国优生与遗传杂志,2012(7):22-24. |
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| 作者姓名： | 欧展辉 梁雄 孙筱放 |
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| 作者单位： | 珠海市人民医院;暨南大学第三附属医院产科;广州医学院第三附属医院妇产科研究所 |
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| 摘 要： | 目的比较甲基化特异性多重连接依赖性探针扩增和甲基化特异性PCR两种方法检测Prader–Willi综合征。方法应用细胞遗传学、甲基化特异性多重连接依赖性探针扩增和甲基化特异性PCR方法检测1个Prader–Willi综合征家系。结果甲基化特异性多重连接依赖性探针扩增和甲基化特异性PCR方法均能对患者进行检测,为缺失型致病,而其父母未见异常。结论甲基化特异性多重连接依赖性探针扩增方法检测Prader–Willi综合征比甲基化特异性PCR方法提供更多的致病信息。
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| 关 键 词： | 甲基化特异性多重连接依赖性探针扩增 甲基化特异性PCR Prader–Willi综合征 SNRPN基因 |
DetectingPrader–Willi syndrome with methylation specific multiplex ligation-dependent probe amplification and methylation-specific PCR |
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| OU Zhan-hui,LIANG Xiong,SUN Xiao-fang.DetectingPrader–Willi syndrome with methylation specific multiplex ligation-dependent probe amplification and methylation-specific PCR[J].Chinese Journal of Birth Health & Heredity,2012(7):22-24. |
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| Authors: | OU Zhan-hui LIANG Xiong SUN Xiao-fang |
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| Institution: | 1.Department of Obstetrics,The Third Affiliated Hospital of Jinan University,Zhuhai,519000,P.R.China;2.Institute of Gynecology and Obstetrics,The Third Affiliated Hospital of Guangzhou Medical College,Duobao Road,Guangzhou,510150 P.R.China) |
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| Abstract: | Objective:Comparing methylation specific multiplex ligation-dependent probe amplification to methylation-specific PCR methods of detecting Prader–Willi syndrome.Methods:Using cytogenetic analysis,methylation specific multiplex ligation-dependent probe amplification and methylation-specific PCR methods to detect a Prader–Willi syndrome family.Results:methylation specific multiplex ligation-dependent probe amplification and methylation-specific PCR methods could be used to detect Prader–Willi syndrome,and the patient was caused by deletion of relative gene in the 15q11-q13 region,but his parents were normal.Conclusion:Methylation specific multiplex ligation-dependent probe amplification was able to give more messages than methylation-specific PCR method. |
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| Keywords: | Methylation specific multiplex ligation-dependent probe amplification Methylation-specific PCR Prader–Willi syndrome SNRPN gene |
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