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METHOD AND SYSTEM FOR ESTIMATING A GENDER OF A FOETUS OF A PREGNANT FEMALE

机译:估计孕妇的胎儿性别的方法和系统

摘要

A method for estimating a gender of a foetus of a pregnant female, said method comprising measuring allele presences (Dx) for a first plurality of genetic markers of the X-chromosome and allele presences (DR) for a second plurality of genetic markers of at least one reference chromosome, different from the X and Y chromosome, in a sample of cell-free DNA from a pregnant female; based on said measured allele presences for said first plurality, determining a first fraction thereof which is associated with purely homozygous genetic markers; based on said measured allele presences for said second plurality, determining a second fraction thereof which is associated with purely homozygous genetic markers; and estimating a gender of said foetus based on said first and second fraction.
机译:一种估计怀孕女性胎儿性别的方法,所述方法包括测量X染色体的第一多个遗传标记的等位基因存在(Dx)和第二个遗传标记的等位基因存在(DR)。孕妇的无细胞DNA样品中至少有一个不同于X和Y染色体的参考染色体;基于针对所述第一多个的所述测得的等位基因存在,确定其与纯纯合遗传标记相关的第一部分;基于针对所述第二多个的所述测量的等位基因存在,确定其第二部分,其与纯纯合的遗传标记有关;并且基于所述第一和第二分数来估计所述胎儿的性别。

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