Contetnts

Contents

Primer on Molecular Genetics

Revised and expanded by Denise Casey (HGMIS) from the primer contributed by Charles Cantor and Sylvia Spengler (Lawrence Berkeley Laboratory) and published in the Humań Genome 1989-90 Program Report.

Introduction.............................................................................................................5

DNA...............................................................................................................................6

Genes............................................................................................................................7

Chromosomes...............................................................................................................8

Mapping and Sequencing the Humań 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 Humań Genome Project.......................................................30

Glossary.................................................................................................................32

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