Molecular Diagnosis Flashcards
what is PCR?
a quick and accurate technique to make numerous (millions to billions) copies of a piece of DNA of interest
- each cycle the number of DNA strands double 2^n
what is qPCR?
known as real-time PCR - follow over time
- monitoring the amplification process
what diseases have PCR detection kits?
HIV (Abbott and Roche)
acute myeloid leukemia (Abbott)
breast cancer (Cepheid)
what is DNA sequencing?
whole genome sequencing (WGS)
whole genome exon (coding region) sequencing (WGES)
what is RNA sequencing?
study effects of transcriptome on phenotypes such as disease susceptibility
applications of RNA sequencing
transcript identification
splice variant analysis
differential expression
clinical diagnosis
what is a biochip?
an array of selected biomolecules immobilized on a surface
what is a microarray?
a rapid method of sequencing and analyzing genes
applications of biochips and microarray:
DNA sequencing
drug discovery and development
molecular diagnosis
biomarker identification
drug safety
pharmacogenomics
what are the biochip technologies (DNA chip)?
PCR on a chip
gene profiling array
Arrayit H25K
AmpliChip CYP450 (roche)
what are examples of biochips?
NanoCHIP BRCA
23andme
what is microfluidics?
one of the most important innovations of biochip technology
- many samples on one chip
what is fluorescence in situ hybridization (FISH)?
use fluorescent probes to detect and localize a specific DNA sequence
what is SNP genotyping?
high resolution genome-wide association of SNPs to risk profiles of common diseases
how are CNVs detected?
with high-throughput scanning technologies such as comparative genomic hybridization (CGH) and high-density SNP microarrays
