Convenient, Accurate Methods of Molecular Haplotyping Using Hybridization Probes and Long-Range PCR
Genetic research has shown that variation or polymorphism in a gene may cause disease, increase risk of disease or affect response to therapeutic treatment of the disease. The particular combination of genetic polymorphisms at multiple loci is referred to as the �haplotype�. If an individual is heterozygous for particular variants, it can be necessary to establish whether the two mutations are in cis or trans to correctly analyze the individual�s disease risk status. Advances in the field of human genome mapping and accumulation of data from mutation screening programs emphasize the need to develop adequate and cost-effective methods for direct molecular haplotyping, without the need of family pedigree analysis, cloning or complex instrumentation. The present inventions are novel and cost-effective methods for discriminating haplotype, and the methods are currently being applied in the clinical laboratory for analysis of polymorphisms in the cystic fibrosis and beta-2-adrenergic receptors.
In the year 2005, the global market for molecular diagnostics was worth $6.5 billion, representing approximately 3.3% of the total diagnostics market and approximately 14% of the in vitro diagnostics market. These methods will allow for the clinical expansion of the molecular diagnostics industry.
Stage of Development
Two patent applications have been submitted to the United States Patent and Trademark Office. These technologies are part of an active and ongoing research program and are currently being applied for clinical testing, and are available for licensing under non-exclusive terms.
*Pont-Kingdon G , Lyon E. (2005), Direct molecular haplotyping by melting curve analysis of hybridization probes: beta 2-adrenergic receptor haplotypes as an example. Nucleic Acids Research 33:e89.
*Pont-Kingdon G , Jama M, Miller C, Millson A, Lyon E. (2004) Long-range (17.7 kb) allele-specific polymerase chain reaction method for direct haplotyping of R117H and IVS-8 mutations of the cystic fibrosis transmembrane regulator gene. Journal of Mol Diagnostics. 6:264-70.
Elaine Lyon, John Gavin Ward, Genevieve Pont-Kingdon
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