primer - Primer on Molecular Genetics 1 DOE Human Genome...

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1 Primer on Molecular Genetics
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2 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: 865/576-6669 Fax: 865/574-9888 E-mail: [email protected]
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3 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 ............................................................................................................. 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
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5 Introduction T he complete set of instructions for making an organism is called its genome. It contains the master blueprint for all cellular structures and activities for the lifetime of Fig. 1. The Human Genome at Four Levels of Detail. Apart from reproductive cells (gametes) and mature red blood cells, every cell in the human body contains 23 pairs of chromosomes, each a packet of compressed and entwined DNA (1, 2). Each strand of DNA consists of repeating nucleotide units composed of a phosphate group, a sugar (deoxyribose), and a base (guanine, cytosine, thymine, or adenine) (3). Ordinarily, DNA takes the form of a highly regular double- stranded helix, the strands of which are linked by hydrogen bonds between guanine and cytosine and between thymine and adenine. Each such linkage is a base pair (bp); some 3 billion bp constitute the human genome. The specificity of these base-pair linkages underlies the mechanism of DNA replication illustrated here. Each strand of the double helix serves as a template for the synthesis of a new strand; the nucleotide sequence (i.e., linear order of bases) of each strand is strictly determined. Each new double helix is a twin, an exact replica, of its parent. (Figure and caption text provided by the LBL Human Genome Center.) the cell or organism. Found in every nucleus of a person’s many trillions of cells, the
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This note was uploaded on 06/16/2011 for the course BIO 127 taught by Professor Xuyin during the Spring '10 term at Georgetown.

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primer - Primer on Molecular Genetics 1 DOE Human Genome...

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