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1. 发明申请

WO2013150503A1 NONINVASIVE PRENATAL DIAGNOSIS OF FETAL TRISOMY BY ALLELIC RATIO ANALYSIS USING TARGETED MASSIVELY PARALLEL SEQUENCING 审中-公开
标题翻译：通过使用特定的大规模并行序列的ALLELIC比率分析对非局部性TRISOMY进行无意义的初步诊断
公开(公告)号：WO2013150503A1
公开(公告)日：2013-10-10
申请号：PCT/IB2013/052804
申请日：2013-04-08
申请人： THE CHINESE UNIVERSITY OF HONG KONG
发明人： CHIU, Wai Kwun Rossa , LIAO, Jiawei , CHAN, Kwan Chee , LO, Yuk Ming Dennis
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q1/6827 , C12Q2600/156 , C12Q2600/158 , G06F19/20 , G06F19/22 , C12Q2537/16
摘要： Whether a fetus has an aneuploidy associated with a first chromosome is detected using ratios of alleles detected in a maternal sample having a mixture of maternal and fetal DNA. DNA from the sample is enriched for target regions associated with polymorphic loci and then sequenced. Polymorphic loci (e.g., single nucleotide polymorphisms) in the target regions with fetal -specific alleles are identified on a first chromosome and on one or more reference chromosomes. A first ratio of the fetal-specific alleles and shared alleles is determined for the loci on the first chromosome. A second ratio of the fetal-specific alleles and shared alleles is determined for the loci on the reference chromosome(s). A third ratio of the first and second ratio can be compared to a cutoff to determine whether an aneuploidy is present, and whether die aneuploidy is maternally-derived or paternally-derived.
摘要翻译：使用在具有母体和胎儿DNA混合物的母体样品中检测到的等位基因的比例来检测胎儿是否具有与第一染色体相关联的非整倍体。来自样品的DNA富集与多态性位点相关的靶区域，然后测序。在具有胎儿特异性等位基因的靶区域中的多态性位点（例如，单核苷酸多态性）在第一染色体上和一个或多个参考染色体上鉴定。确定第一染色体上的位点的胎儿特异性等位基因和共享等位基因的第一比例。针对参考染色体上的位点确定胎儿特异性等位基因和共享等位基因的第二比例。可以将第一和第二比率的第三比值与截止值进行比较，以确定是否存在非整倍体，并且是否将非整倍体的母体衍生或亲本衍生。

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