发明名称 |
METHODS FOR PRENATAL DIAGNOSIS OF CHROMOSOMAL ABNORMALITIES |
摘要 |
<p>Chromosomal abnormalities are responsible for a significant number of birth defects, including mental retardation. The present invention is related to methods for non-invasive and rapid, prenatal diagnosis of chromosomal abnormalities based on analysis of a maternal blood sample. The invention exploits the differences in DNA between the mother and fetus, for instance differences in their methylation states, as a means to enrich for fetal DNA in maternal plasma sample. The methods described herein can be used to detect chromosomal DNA deletions and duplications. In a preferred embodiment, the methods are used to diagnose chromosomal aneuploidy and related disorders, such as Down's and Turner's Syndrome.</p> |
申请公布号 |
WO2005035725(A3) |
申请公布日期 |
2006.06.29 |
申请号 |
WO2004US33175 |
申请日期 |
2004.10.08 |
申请人 |
THE TRUSTEES OF BOSTON UNIVERSITY;CANTOR, CHARLES, R.;DING, CHUNMING |
发明人 |
CANTOR, CHARLES, R.;DING, CHUNMING |
分类号 |
C12Q1/68;C12P19/34 |
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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