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Methods for identifying chromosomal aneuploidy

  • US 6,979,541 B1
  • Filed: 07/26/2002
  • Issued: 12/27/2005
  • Est. Priority Date: 07/26/2001
  • Status: Expired due to Fees
First Claim
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1. A method for identifying chromosomal aneuploidy in a biological sample, comprising the steps of:

  • a) providing a biological sample from an embryo or a fetus containing heterozygous alleles having a single nucleotide polymorphism (SNP) and heterozygous alleles acting as a hybridization quantification internal control;

    b) selecting a panel of at least 3 different target SNPs each having a heterozygocity index of greater than about 30% and having loci sufficiently distributed throughout chromosome 21 to allow detection of chromosomal trisomy, partial trisomy, and chromosomal breakpoint locations;

    c) hybridizing target SNPs contained in the heterozygous alleles with fluorescent hybridization probes;

    d) measuring hybridization as a function of fluorescence and temperature; and

    e) quantifying hybridization as a ratio of heterozygous alleles present in the biological sample and categorizing each ratio as indicative of either trisomic or non-trisomic alleles.

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