发明名称 |
METHOD FOR DETECTING CHROMOSOME DEFICIENCIES FOR CONGENITAL ABNORMALITY |
摘要 |
An object the present invention is to analyze human chromosomes in terms of the presence of a duplication or deletion so as to determine the cause of a multiple congenital anomaly syndrome accompanying mental retardation, to thereby provide a method for determining whether or not a human subject has the syndrome. The present invention includes detecting a hemizygote deletion in the region 10q24.31-10q25.1 of a human chromosome of a human subject, to thereby determine whether or not the subject has a multiple congenital anomaly syndrome accompanying mental retardation. The detection is preferably carried out by hybridizing a reference nucleic acid fragment including a part of the 10q24.31-10q25.1 region with a nucleic acid fragment of a specimen, and detecting a signal attributed to the hemizygote deletion of the 10q24.31-10q25.1 region. |
申请公布号 |
EP2319938(B1) |
申请公布日期 |
2016.06.01 |
申请号 |
EP20090803072 |
申请日期 |
2009.07.30 |
申请人 |
FUJIFILM CORPORATION;NATIONAL UNIVERSITY CORPORATION TOKYO MEDICAL ANDDENTAL UNIVERSITY |
发明人 |
INAZAWA, JOHJI;IMOTO, ISSEI;HAYASHI, SHIN;AIZU, YOSHINORI |
分类号 |
C12Q1/68 |
主分类号 |
C12Q1/68 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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