Primer on molecular genetics

Introduction ............................................................................................................. 5 DNA.............................................................................................................................. 6 Genes........................................................................................................................... 7 Chromosomes ............................................................................................................... 8 Mapping and Sequencing the Human Genome ...................................... 10 Mapping Strategies ..................................................................................................... 11 Genetic Linkage Maps ............................................................................................ 11 Physical Maps......................................................................................................... 13 Low-Resolution Physical Mapping...................................................................... 14 Chromosomal map ......................................................................................... 14 cDNA map ...................................................................................................... 14 High-Resolution Physical Mapping ..................................................................... 14 Macrorestriction maps: Top-down mapping ................................................... 16 Contig maps: Bottom-up mapping.................................................................. 17 Sequencing Technologies ........................................................................................... 18 Current Sequencing Technologies ......................................................................... 23 Sequencing Technologies Under Development ..................................................... 24 Partial Sequencing to Facilitate Mapping, Gene Identification ............................... 24 End Games: Completing Maps and Sequences; Finding Specific Genes .................. 25 Model Organism Research.............................................................................. 27 Informatics: Data Collection and Interpretation ..................................... 27 Collecting and Storing Data ........................................................................................ 27 Interpreting Data ......................................................................................................... 28 Mapping Databases .................................................................................................... 29 Sequence Databases .................................................................................................. 29 Nucleic Acids (DNA and RNA)................................................................................ 29 Proteins .................................................................................................................. 30 Impact of the Human Genome Project ....................................................... 30 Glossary... .............................................................................................................. 32