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Discovery of DNA
The identification of DNA and its structure is one of the most
important discoveries of the twentieth century. DNA was first isolated,
analyzed and recognized as a unique macromolecule by Friedrich
Miescher in 1869. Friedrich Miescher, who was an eminent physiological
chemist from Switzerland, isolated this substance from the pus of
discarded surgical bandages. Friedrich called it nuclein, since it was
located in the nucleus of the cells. Using arduous and complicated
procedures, Miescher proved that the new substance did indeed come
from cell nuclei, and that is was a fundamentally new type of organic
molecule unlike anything known at the time. Although Miescher did
develop some hypotheses about how "nuclein" might be involved in
heredity, he ascribed to the view at the time that any one type of
molecule would be too simple to account for all the variation seen within
species. In 1919, Phoebus Levene identified the base, sugar and
phosphate nucleotide unit in the structure. Further, in 1937, William
Astbury produced the first X-ray diffraction patterns that proved that
DNA had a regular structure. In 1928, Frederick Griffith performed
experiments to prove that DNA carried genetic information.
Thereafter, Oswald Avery along with his co-workers identified DNA as
the transforming principle in the year 1943. The role of DNA in
heredity was confirmed in 1952, when Alfred Hershey and Martha
Chase showed that DNA is the genetic material of the T2 phage. Finally
in 1953, James D. Watson and Francis Crick suggested the first
accurate model of DNA structure. Watson, a biologist, and Crick, a
physicist, were working together in a laboratory in Cambridge, England.
Their work focused on the structure of DNA. Pauling, a chemist, had
discovered an important structure of protein in 1951 and Franklin was a
chemist working busily in a laboratory in France at the time. Wilkins, a
physicist from New Zealand, was a director for a biophysics laboratory
at King's College. In 1951, he took the first x-ray pictures of DNA,
which later resulted in his idea that DNA structure could be helical,
similar to the protein structure shown by Pauling but instead it was
incorrect. The mistake was actually based on a falsely recollected
conversation that Watson had with Franklin, when Franklin had said that
she used x-ray crystallography to establish the water content of DNA.
Watson ended up incorrectly recalling the numbers. Finally, Watson and
Crick received Franklin’s photo-51. Shortly thereafter, the model of
DNA was published. It was Meselson-Stahl experiment in 1958, which
led to the final confirmation of the replication mechanism that was
implied by the double-helical structure. The Meselson–Stahl
experiment was an experiment by Matthew Meselson and Franklin
Stahl in 1958 which supported the hypothesis that DNA
replication was semi conservative. Semi conservative replication means
that when the double stranded DNA helix was replicated, each of the
two double stranded DNA helices consisted of one strand coming from
the original helix and one newly synthesized. It has been called "the
most beautiful experiment in biology. Therefore a great discovery of
DNA has come to end.
Structure of DNA
In 1951, 23-year old biologist James Watson traveled from the United
States to work with Francis Crick, an English physicist at the University
of Cambridge. Crick was already using the process of X-ray
crystallography to study the structure of protein molecules. Together,
Watson and Crick used X-ray crystallography data, produced by
Rosalind Franklin and Maurice Wilkins at King's College in London, to
decipher DNA's structure. This is what they already knew from the
work of many scientists, about the DNA molecule:
"...This (DNA) structure has two helical chains each coiled round the
same axis...Both chains follow right handed helices...the two chains run
in opposite directions. ..The bases are on the inside of the helix and the
phosphates on the outside..."
"The novel feature of the structure is the manner in which the two
chains are held together by the purine and pyrimidine bases... The
(bases) are joined together in pairs, a single base from one chain being
hydrogen-bonded to a single base from the other chain, so that the two
lie side by side...One of the pair must be a purine and the other a
pyrimidine for bonding to occur. ...Only specific pairs of bases can bond
together. These pairs are: adenine (purine) with thymine (pyrimidine),
and guanine (purine) with cytosine (pyrimidine)."
And with these words, the way was made clear for tremendous strides
in our understanding of the structure of DNA and, as a result our
ability to work with and manipulate the information-rich DNA molecule.
Genetic disorders
A genetic disorder is a medical condition that is caused by mutations in
a single gene or within an entire set of genes. These mutations can
happen at any point in life, from mutations within the gamete up until
the biological function of an organism ceases. The body is able to repair
some mutations, and they do not result in disorders. According to the
Genetic Science and Learning Center (GLSC), “our cells have mechanisms
for repairing DNA if mistakes are made in the sequence or if the DNA
is damaged.” Also, some mutations do not exist on both sets of
chromosomes—as in cases where a mutation is only inherited from one
parent—and one normal gene is enough to ensure proper function of the
DNA.
There are four categories of genetic disorders. The first are
chromosomal abnormalities, where a large segment or the entire
chromosome in the DNA is missing, duplicated or otherwise altered, as
is the case with Dawn syndrome and CES. There are also single-gene
disorders, resulting from a mutation that causes the protein product of
a solitary gene to become altered or missing, which is the cause of
sickle cell anemia. Further, there are multifactorial disorders that
occur when mutations affect multiple genes and are often coupled with
environmental causes—this is the case in diseases like diabetes and
cancer. Finally, there are mitochondrial disorders, which are very rare.
These disorders happen when mutations are present in the non-
chromosomal DNA located within the mitochondria.
I. Color blindness
Color blindness or color vision deficiency is the inability to perceive
differences between some of the colors that others can distinguish. It
is most often of genetic nature, but may also occur because
of eye, nerve, or brain damage, or exposure to certain chemicals. The
English chemist John Dalton published the first scientific paper on the
subject in 1798, "Extraordinary facts relating to the vision of
colours", after the realization of his own color blindness. Because of
Dalton's work, the condition was often called daltonism, although this
term is now used for a type of color blindness called deuteranopia.
There are some studies which conclude that color blind individuals are
better at penetrating certain color camouflages and it has been
suggested that this may be the evolutionary explanation for the
surprisingly high frequency of congenital red-green color blindness.
Color vision deficiencies can be classified as acquired or inherited.
• Acquired
• Inherited: There are three types of inherited or congenital color
vision deficiencies: monochromacy, dichromacy, and anomalous
trichromacy.
Monochromacy, also known as "total color blindness," is the lack
of ability to distinguish colors; caused by cone defect or
absence. Monochromacy occurs when two or all three of the cone
pigments are missing and color and lightness vision is reduced to
one dimension.
V. Haemophilia