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公开(公告)号：US20130059733A1
公开(公告)日：2013-03-07
申请号：US13405073
申请日：2012-02-24
CPC分类号： C12Q1/6881 , C12Q2600/154 , C12Q2600/156 , C12Q2600/172 , G16B20/00 , G16B40/00
摘要： Methods, systems, and apparatus are provided for determining zygosity of a multiple-fetus pregnancy using a biological sample taken from the mother. The fetal and maternal DNA in the sample (e.g. plasma) can be analyzed for a particular chromosomal region to identify genetic differences in the fetuses. For example, a normalized parameter for the measure of a primary or secondary allele can show variances for different chromosomal regions when fetuses are dizygotic. Such a variance can be determined relative to an expected value if the fetuses were genetically identical. Statistical methods are provided for analyzing the variation of the normalized parameters to determine fetal DNA concentration and the maternal-fetal mixed genotype at various loci. Parental genotype and haplotype information can also be used to identify inheritance of different parental haplotypes to indicate genetic differences among the fetuses.
摘要翻译： 提供了方法，系统和装置，用于使用从母亲取得的生物样品来确定多胎胎儿怀孕的接合性。 可以分析样品中的胎儿和母体DNA（例如血浆）以获得特定的染色体区域，以鉴定胎儿中的遗传差异。 例如，当胎儿分娩时，用于测量初级或次级等位基因的归一化参数可以显示不同染色体区域的方差。 如果胎儿在遗传上相同，则可以相对于期望值确定这种变化。 提供统计方法用于分析标准化参数的变化，以确定胎儿DNA浓度和各种基因座的母体 - 胎儿混合基因型。 亲代基因型和单倍型信息也可用于鉴定不同亲代单倍型的遗传，以指示胎儿之间的遗传差异。
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公开(公告)号：US10900080B2
公开(公告)日：2021-01-26
申请号：US13405073
申请日：2012-02-24
IPC分类号： C12Q1/6881 , G16B40/00 , G16B20/00
摘要： Methods, systems, and apparatus are provided for determining zygosity of a multiple-fetus pregnancy using a biological sample taken from the mother. The fetal and maternal DNA in the sample (e.g. plasma) can be analyzed for a particular chromosomal region to identify genetic differences in the fetuses. For example, a normalized parameter for the measure of a primary or secondary allele can show variances for different chromosomal regions when fetuses are dizygotic. Such a variance can be determined relative to an expected value if the fetuses were genetically identical. Statistical methods are provided for analyzing the variation of the normalized parameters to determine fetal DNA concentration and the maternal-fetal mixed genotype at various loci. Parental genotype and haplotype information can also be used to identify inheritance of different parental haplotypes to indicate genetic differences among the fetuses.
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