Methods for Identifying Chromosomal Aneuploidy
Proper DNA dosage is essential for normal and cellular development and function. Molecular approaches for the detection of chromosomal abnormalities will allow the development of rapid, cost-effective screening strategies. This invention describes a novel, rapid and highly accurate molecular technique for the detection of chromosomal aneuploidy using quantitative PCR and melting curve analysis. This method can be applied for detection of a number of aneuploidies, including trisomy 21 (Down Syndrome), in embryonic or fetal tissue.
More than one million genetic tests are done each year, and the U.S. market for genetic testing is anticipated to grow to between $7 billion to $20 billion by 2010. The present invention concerns a novel molecular method for rapid identification of chromosomal aneuploidy for research and diagnosis of diseases involving a variation in chromosome number (e.g., cri du chat syndrome, Down syndrome, Edward�s syndrome, Klinefelter�s syndrome, Patau syndrome, Triple X Syndrome, Turner Syndrome, Warkany syndrome, XYY syndrome)
Stage of Development
U.S. patent application 6,979,541 has issued for this invention. It is available for further research collaboration or licensing.
Pont-Kingdon G and Lyon E. Rapid Detection of Aneuploidy (Trisomy 21) by Allele Quantification Combined with Melting Curves Analysis of Single-Nucleotide Polymorphism Loci. Clinical Chemistry 2003;49:1087-1094.
Elaine Lyon, Genevieve Pont-Kingdon
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