利索-全球专利检索

  1. 登录
  2. 注册
发明公开
CN107841543A 通过使用靶向大规模并行测序的等位基因比率分析进行的胎儿三体性的非侵入性产前诊断 有权

通过使用靶向大规模并行测序的等位基因比率分析进行的胎儿三体性的非侵入性产前诊断
摘要：
使用在具有母体DNA和胎儿DNA的混合物的母体样品中检测到的等位基因的比率，来检测胎儿是否具有与第一染色体相关的非整倍性。针对与多态性基因座相关的靶标区域富集来自样品的DNA，然后进行测序。确定第一染色体以及一个或多个参照染色体上具有胎儿特异性等位基因的靶标区域中的多态性基因座(例如单核苷酸多态性)。确定第一染色体上的基因座处的胎儿特异性等位基因与共有的等位基因之间的第一比率。确定参照染色体上的基因座处的胎儿特异性等位基因与共有的等位基因之间的第二比率。可将所述第一比率与第二比率之间的第三比率与阈值比较以确定是否存在非整倍性，以及该非整倍性是母本来源的还是父本来源的。
摘要（英）：

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 ratioof 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 whetheran aneuploidy is present, and whether die aneuploidy is maternally-derived or paternally-derived.

公开/授权文献
0/0