首页> 外国专利> METHOD FOR DETECTING CHROMOSOME DELETION OF CONGENITAL ANOMALY

METHOD FOR DETECTING CHROMOSOME DELETION OF CONGENITAL ANOMALY

机译:检测先天性异常染色体的方法

摘要

PPROBLEM TO BE SOLVED: To provide a method for identifying diseases of multiple congenital anomaly-mental retardation by analyzing the presence of amplification or deletion of human chromosomes and elucidating the causes of the diseases. PSOLUTION: The method for identifying multiple congenital anomaly-mental retardation comprises detecting a hemizygote deletion in a region of 10q24.31-10q25.1 of a human chromosome. Preferably the method for identifying multiple congenital anomaly comprises detecting a signal emitted on the basis of the hemizygote deletion in the chromosome region by hybridization of a nucleic acid containing a part of the region of 10q24.31-10q25.1 of the human chromosome and a specimen nucleic acid. 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扩增或缺失的存在并阐明疾病原因来鉴定多发性先天性异常-智力低下疾病的方法。

解决方案:用于识别多个先天性异常-智力发育迟缓的方法包括检测人染色体10q24.31-10q25.1区域中的半合子缺失。优选地,用于识别多个先天性异常的方法包括:通过使包含人类染色体的10q24.31-10q25.1的部分区域的核酸与在染色体区域中的半合子缺失相结合来检测发射的信号。标本核酸。

版权:(C)2010,日本特许厅&INPIT

著录项

相似文献

  • 专利
  • 外文文献
  • 中文文献
获取专利

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号