Report of the Committee on Mapping and Sequencing the Human Genome (1988) / Chapter Skim
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INTRODUCTION
INTRODUCTION
Pages 11-27
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From page 11... ...
Unprecedented advances in molecular and cellular biology, in biochemistry, in genetics, and in structural biology -- occurring at an accelerating rate over the past decade -- define this as a unique and opportune moment in our history: For the first time we can envision obtaining easy access to the complete sequence of the 3 billion nucleotides in human DNA and deciphering much of the information contained therein. Converging developments in recombinant DNA technology and genetics make obtaining a complete ordered DNA clone collection indexed to the human genetic linkage map a realistic immediate goal.
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From page 12... ...
The Human Genome Is Composed of 24 Different Types of DNA Molecules Human DNA is packaged into physically separate units called chromosomes. Humans are diploid organisms, containing two sets of genetic information, one set inherited from the mother and one from the father.
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From page 13... ...
Diagrams are of a very short section of the DNA molecule in each chromosome. The human genome contains about 200 million times the amount of DNA shown.
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From page 15... ...
(A) Specific hydrogen bond interactions between G and C and between A and T bases generate complementary nucleotide pairs (that is, G always bonds with C and A always bonds with T)
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From page 17... ...
in the protein chain. Portion of the chromosome containing a gene Noncoding region, / including a regulatory region Exon i Exon Exon Exon Intron Intron Intron Transcription \ Noncoding region Primary RNA transcript Messenger RNA (mRNA)
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From page 19... ...
mRNA (in thousands of nucleotides) Number of Introns Alpha globin 0.8 Beta globin 1.5 Insulin 1.7 Apolipoprotein E 3.6 Parathyroid 4.2 Protein kinase C 11 Collagen I Pro-alpha-l(I)
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From page 20... ...
Since there are 24 different DNA molecules in the human genome, a complete human gene map consists of 24 maps, each in the linear form of the DNA molecule itself. One type of useful genome map is the messenger RNA (mRNA)
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From page 21... ...
DNA lacking a specific restriction site yields a larger restriction fragment when cut by the enzyme than DNA containing the site; hence, the designation restriction fragment length polymorphism (RFLP)
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From page 22... ...
The ability to clone and analyze individual genes and to deduce the amino acid sequences of encoded proteins has greatly increased our understanding of genetic disorders, the immune system, endocrine abnormalities, coronary artery disease, infectious diseases, and cancer. A few proteins produced on a commercial scale by recombinant DNA methods are available for therapeutic use or in clinical trials, and many more are in earlier developmental stages.
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From page 25... ...
The complete nucleotide sequences of the genomes of the several organisms of major experimental interest will provide a critical reference data base for interpreting and studying the many human genes that will be discovered. To take just one example, an individual cancer researcher who discovers a new oncogene in a human tumor will have immediate access by computer search to all the proteins that are likely to have a related function in lower organisms.
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From page 26... ...
The human genome map and an ordered set of human DNA clones will be available as a resource for the use of all investigators, enabling them to concentrate on the most interesting parts of their research. In addition, new areas of research are likely to emerge as a result of this resource, particularly in relation to human health.
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From page 27... ...
Recombinant DNA: A Short Course.
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