The invention provides a method useful for detection of genetic disorders. The method comprises determining the sequence of alleles of a locus of interest, and quantitating a ratio for the alleles at the locus of interest, wherein the ratio indicates the presence or absence of a chromosomal abnormality. The present invention also provides a non-invasive method for the detection of chromosomal abnormalities in a fetus. The invention is especially useful as a non-invasive method for determining the sequence of fetal DNA. The invention further provides methods of isolation of free DNA from a sample.
本发明提供了一种用于检测遗传疾病的方法。该方法包括确定相关位点的等位
基因序列,并量化相关位点等位
基因的比值,其中比值表示是否存在染色体异常。本发明还提供了一种检测胎儿染色体异常的无创方法。本发明尤其适用于确定胎儿 DNA 序列的无创方法。本发明进一步提供了从样本中分离游离 DNA 的方法。