Chapter 9: Digital Analysis of DNA
When available, the links under the Suggested Readings section will take you to websites
that either provide free electronic full-text versions of these references, or links to online
abstracts. All of these abstracts are themselves free. Many of the abstract sites contain
links to online full-text versions of the references; some of these full-text versions are
free, while others require personal or institutional subscriptions. None of the sites that can
be accessed through the links below are affiliated with McGraw-Hill Publishers.
Foundation Articles Describing Recombinant DNA Technology
Suggested Readings

Cohen, S., A. Chang, H. Boyer and R. Helling. 1973. Construction of Biologically
Functional Bacterial Plasmids in vitro. Proc Natl Acad Sci USA. 70:3240-3244.
[Full text links, 1, 2]
This paper describes the construction of the first recombinant DNA molecule to
be introduced into a living cell. The process involved inserting a recombinant
plasmid into E. coli.

Jackson, DA, RH Symons, and P Berg. 1972. Biochemical Method for Inserting
New Genetic Information into DNA of Simian Virus 40: Circular SV40 DNA
Molecules Containing Lambda Phage Genes and the Galactose Operon of
Escherichia coli. Proc Natl Acad Sci USA. 69(10):2904-2909. [Full-text link]
One of the early papers to describe the formation of recombinant DNA molecules.

Lobban, P. and AD Kaiser. 1973. Enzymatic End-to-end Joining of DNA
Molecules. J. Mol. Biol. 78(3):453-471. [Entrez-PubMed link]
One of the early papers to describe the formation of recombinant DNA molecules.
Original DNA Sequencing Articles
Suggested Readings

Gilbert, W. and A. Maxam. 1973. The Nucleotide Sequence of the lac Operator.
Proc Natl Acad Sci USA. 70(12):3581-3584. [Full-text link]
The initial paper describing the base-specific chemical cleavage method of DNA
sequencing.
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
Sanger, F. JE Donelson, AR Coulson, et al. 1973. Use of DNA Polymerase I
Primed by a Synthetic Oligonucleotide to Determine a Nucleotide Sequence in
Phage f1 DNA. Proc Natl Acad Sci USA. 70(4):1209-1213 [Full-text link]
The initial paper describing the dideoxy method of DNA sequencing

Sanger, F., S. Nicklen, and AR Coulson. 1977. DNA Sequencing with Chainterminating Inhibitors. Proc Natl Acad Sci USA. 74(12):5463-5467. [Full-text
link]
This paper describes refinements to the dideoxy method of DNA sequencing. This
variation would become the most common method of DNA sequencing.

Smith, LM, Sanders JZ, Kaiser RJ. et al. 1986. Fluorescence Detection in
Automated DNA Sequence Analysis. Nature 321(6071):674-679.[Entrez-PubMed
link]
The paper from the lab of Leroy Hood that introduced the automation of DNA
sequencing. This was an important initial breakthrough that enabled the start of
the Human Genome Project.
More on the Human α and β-globin Loci, and their Associated Diseases
Websites

Hemoglobinopathies
http://sickle.bwh.harvard.edu/hemoglobinopathy.html
Hosted by the Information Center for Sickle Cell and Thalassemic Disorders, this
site describes the various diseases associated with the hemoglobin molecule

Methemoglobinemia at MedLine
http://www.nlm.nih.gov/medlineplus/ency/article/000562.htm#Definition
This site contains information on a rare form of globin disorder called
methemoglobinemia, a disease characterized by bluish colorations of the skin and
mucous membranes.

Sickle Cell Information Center at Emory University
http://www.scinfo.org/
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Contains many useful links to information on sickle-cell disease, including
information for patients and health-care providers.
More on the Use of Restriction Analysis During in the Diagnosis of Sickle-cell
Syndrome
Suggested Readings

Embury SH, Scharf, SJ., Saiki RK, et a. 1987. Rapid Prenatal Diagnosis of Sickle
Cell Anemia by a New Method of DNA Analysis. N. Engl J. Med. 316(11):656661 [Entrez-PubMed link]
This paper describes the use of normal beta globin genes to form hybrid duplexes
with amplified mutant genes. The hybrids are then exposed to restriction enzymes
to diagnose the disease.

Saikri, RK., Scharf, S. Faloona, F. et al. 1985. Enzymatic Amplification of Betaglobin Genomic Sequences and Restriction Site Analysis for the Diagnosis of
Sickle Cell Anemia. Science. 230(4732):1350-1354 [Entrez-PubMed link]
Describes the use of primer-mediated amplification of DNA, followed by
treatment with restriction enzymes to assess the precise location of mutations in
the beta-globin gene.
History of the Biotechnology Industry
Suggested Readings

Danna, K. and D. Nathans. 1971. Specific Cleavage of Simian Virus 40 DNA by
Restriction Endonuclease of Hemophilus Influenzae. Proc Natl Acad Sci USA.
68(12): 2913-2917. [Full-text link]
This paper describes the first use of a restriction enzyme to cut DNA.

Mullis, K. Faloona, F. Scharf, S. et al. 1986. Specific Amplification of DNA in
vitro: The Polymerase Chain Reaction. Cold Spring Harbor Symposium on
Quantitative Biology 51(1):263-273. [Entrez-PubMed link]
An introduction to the principles of the polymerase chain reaction.

Mullis, K. 1990. The Unusual History of the Polymerase Chain Reaction. Sci
Amer. 262(4):56-65. [Entrez-PubMed link]
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Mullis’s account of how he developed the procedure for the polymerase chain
reaction.

Southern, EM. 1975. Detection of Specific Sequences Among DNA Fragments
Separated by Gel Electrophoresis. J Mol Biol. 98:503-517. [Entrez-PubMed link]
This paper introduced the procedure of what became known as the Southern blot.
Websites

Polymerase Chain Reaction at PCRlinks.com.
http://www.pcrlinks.com/generalities/history.htm
Information on the history of the PCR reaction

Information on Bacillus thuringiensis (UC- San Diego)
http://www.bt.ucsd.edu/
This site contains information on the history of Bt transgenic crops and their
worldwide use in agriculture.
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