Gene dosage abnormalities may occur at gene level (such as a thalassemias), subchromosome level (such as contiguous gene syndromes), or chromosome level (aneuploidy). The objective of this project is to develop molecular diagnostic kits for thedetection of common aneuploidies and contiguous gene syndromes. A methodology has been developed by Genaco's researchers that allows high throughput detection of gene dosage alterations. The key is to utilize a carefully designed PCR based quantitation system. A """"""""reference genome"""""""" will be constructed that contains a copy of control allele for each tested locus. When co-amplified with genomic DNA, the reference genome will help to measure the relative gene dosage of many loci at a time. The end products of the project may be a diagnostic kit for fast and accurate detection of trisomies (trisomies 21, 18, 13 and others) and a kit for the detection of common contiguous gene syndromes (such as DeGeorge, Prader-Willi/Angelman, Miller-Dieker, Smith-Magenis, Rubinstein-Taybi, Langer-Giedion, Beckwith-Wiedemann and WAGR etc.)
Molecular diagnostic kits can be developed based on the proposed research. A fast and accurate gene dosage analysis method could be used for the detection of chromosome aneuploidy (including Down's syndrome), microdeletionsyndromes (including William syndrome, DiGeorge Syndrome, etc), and cancer specific allelic loss.
