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Abstract

Abstract: DESCRIPTION (provided by applicant): There is a need for inexpensive high throughput platforms for analyzing large number of single nucleotide polymorphisms. In this proposal, we describe the development of a technique, which will enable more than 10,000 SNPs to be analyzed in a single tube and its transfer to a commercial entity (ParAllele Genomcis Inc.). The technology exploits the specificity of padlock probes, and employs the fidelity of polymerase and ligase to accurately identify the nucleotide polymorphism. A molecular tag is designed in the backbone of the probe to allow parallel detection of many polymorphisms. In this way, the information of the polymorphism can be reformatted into the tag sequence, which is then amplified using general PCR primer. The amplification product is then screened on a complementary tag chip. This technology is expected to have applications in population genetics and large-scale disease association studies and unlike other available technologies uses very low amount of DNA sample per SNP screened.

Thesaurus Terms:
genetic polymorphism, genome, genotype, high throughput technology, nucleic acid probe, technology /technique development
DNA directed DNA polymerase, dinucleotide, ligase, microarray technology, nucleic acid sequence, polymerase chain reaction
biotechnology

Institution:	PARALLELE BIOSCIENCE
	384 OYSTER POINT BLVD, STE 8
	SOUTH SAN FRANCISCO, CA 94080
Fiscal Year:	2002
Department:
Project Start:	01-JUN-2002
Project End:	31-MAY-2003
ICD:	NATIONAL HUMAN GENOME RESEARCH INSTITUTE
IRG:	ZRG1