A method for accurate detection of genomic microdeletions using real-time quantitative PCR.

ABSTRACT:

Background

Quantitative Polymerase Chain Reaction (qPCR) is a well-established method for quantifying levels of gene expression, but has not been routinely applied to the detection of constitutional copy number alterations of human genomic DNA. Microdeletions or microduplications of the human genome are associated with a variety of genetic disorders. Although, clinical laboratories routinely use fluorescence in situ hybridization (FISH) to identify such cryptic genomic alterations, there remains a significant number of individuals in which constitutional genomic imbalance is suspected, based on clinical parameters, but cannot be readily detected using current cytogenetic techniques.

Results

In this study, a novel application for real-time qPCR is presented that can be used t

SUBMITTER: Weksberg R 

PROVIDER: S-EPMC1327677 | biostudies-literature | 2005 Dec

REPOSITORIES: biostudies-literature