GENE 320 Lecture Notes - Lecture 24: Comparative Genomic Hybridization, Whole Genome Sequencing, Copy-Number Variation
Document Summary
Detect dna mutations associated with single gene diseases. Ex: sickle-cell anemia, cystic brosis, huntington disease, hemophilias, muscular dystrophies. Perfrom prenatal diagnosis of genetic diseases samples are obtained from amniocentesis and chorionic villus sampling (cvs) Haplotypes: contiguous segments of dna that do not undergo recombination distinguish which dna segments are maternal and which are fetal. Con rm diagnosis of disease detected by other methods. Identify genetic diseases in emrbyos created by in vitro fertilization. Genetic test w/ restriction enzymes: helps identify disorders such as sickle cell anemia. Uses as probes to identify alleles that differ by a single oligonucleotide. Genetic analysis of single cells from embryos created by in vitro fertilization. Comparative genomic hybridization (cgh) microarray techinque used to identify copy number variation throughout the genome. Whole genome transcriptome analysis of pathogens informs researchers about genes that are important for pathogen infection and replication pathogens are used to infect host in vitro.
