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DOE Human Genome Program

Primer on Molecular Genetics

Date Published: June 1992 U.S. Department of Energy Office of Energy Research Office of Health and Environmental Research Washington, DC 20585

The "Primer on Molecular Genetics" is taken from the June 1992 DOE Human Genome 1991-92 Program Report. The primer is intended to be an introduction to basic principles of molecular genetics pertaining to the genome project.

Human Genome Management Information System Oak Ridge National Laboratory 1060 Commerce Park Oak Ridge, TN 37830 Voice: 423/576-6669 Fax: 423/574-9888 E-mail: bkq@ornl.gov

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 Human Genome 1989–90 Program Report.

Introduction

DNA

Genes

Chromosomes

Mapping and Sequencing the Human Genome

Mapping Strategies

Genetic Linkage Maps

Physical Maps

Low-Resolution Physical Mapping

Chromosomal map

cDNA map

High-Resolution Physical Mapping

Macrorestriction maps: Top-down mapping

Contig maps: Bottom-up mapping

Sequencing Technologies

Current Sequencing Technologies

Sequencing Technologies Under Development

Partial Sequencing to Facilitate Mapping, Gene Identification

End Games: Completing Maps and Sequences; Finding Specific Genes

Model Organism Research

Informatics: Data Collection and Interpretation

Collecting and Storing Data

Interpreting Data

Mapping Databases

Sequence Databases

Nucleic Acids (DNA and RNA)

Proteins

Impact of the Human Genome Project

Glossary

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