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METHOD FOR DISCRIMINATING MULTIPLE ANOMALAD ACCOMPANIED WITH MENTAL RETARDATION

机译:鉴别伴有智力低下的多个异常的方法

摘要

PPROBLEM TO BE SOLVED: To provide a method for discriminating the disease of multiple anomalad accompanied with mental retardation by analyzing the presence or absence of the amplification or deletion of human chromosomes and by clarifying the cause. PSOLUTION: The method for discriminating multiple anomalad accompanied with mental retardation includes detecting the deletion of hemizygote in the 3p26.1-3p25.3 region of human chromosomes and suitably detecting the signal generated, based on the deletion of the hemizygote, by the hybridization of a specimen DNA with nucleic acid including a part of the 3p26.1-3p25.3 region. PCOPYRIGHT: (C)2010,JPO&INPIT
机译:<要解决的问题:提供一种通过分析人类染色体的扩增或缺失的存在与否并弄清原因来鉴别多发性异常并伴有智力低下的疾病的方法。

解决方案:鉴别伴有智力障碍的多个异常的方法包括:检测人类染色体3p26.1-3p25.3区域中半合子的缺失,并基于半合子的缺失,适当检测产生的信号,方法是:将标本DNA与包含3p26.1-3p25.3部分区域的核酸杂交。

版权:(C)2010,日本特许厅&INPIT

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