Methods for detection of genetic disorders

  • US 7,332,277 B2
  • Filed: 09/11/2003
  • Issued: 02/19/2008
  • Est. Priority Date: 03/01/2002
  • Status: Active Grant
First Claim
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1. A method for detecting the presence or absence of a fetal chromosomal abnormality, said method comprising:

  • quantitating a ratio of the relative amount of alleles at a heterozygous locus of interest in a mixture of template DNA, wherein said mixture comprises maternal DNA and fetal DNA, and wherein said mixture of maternal DNA and fetal DNA has been obtained from a sample from a pregnant female, and further wherein said heterozygous locus of interest has been identified by determining the sequence of alleles at the locus of interest, and wherein said ratio indicates the presence or absence of a fetal chromosomal abnormality.

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