Molecular Advances to the Diagnosis of a Genetic Disorder

Running Head: GENETIC DISORDER
Molecular Advances to the Diagnosis of a Genetic Disorder

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Introduction
As per the research of Gopal et al. (2017), all the diseases have a genetic component
in them. However, the extent to which this genetic component influence the disease varies.
The essay aims to evaluate the advances in the genetic mechanism by evaluating the structure
of genetic materials and their alteration due to natural and artificial means. Furthermore, the
essay also focuses on the modes of inheritance for genetic disorder and discusses current
applications and impact of cell biology, genetics and biochemistry in terms of diagnosis of
genetic disorders. For the essay, autosomal dominant inheritance mode is selected. The essay
focuses on Huntington’s disease to evaluate the applications in diagnosing this genetic
disorder.
Structure of Genetic Material
The structure of DNA is comprised of two nucleic strands that are joined by hydrogen
bonding. According to Han et al. (2017), DNA combines itself in a double helix shape
containing hydrogen bonding between the bases of strands that shaped like rungs of a ladder.
Due to this structure, DNA is able to coil itself in a long chain molecule that is compact and
has the capacity to store lots of information. Wei et al. (2017) defined the complementary
base pairing that suggests that a larger purine always combines with the smaller pyrimidine,
thereby enables it to maintain a constant distance with its two DNA block bones through
which parallel polynucleotide chains are formed. This ensures that the two strands are
opposite to each other with the bases that allow DNA to holds coded information for protein
synthesis and enable accurate DNA replication. The double helix structure ensures that the
DNA could be unzipped for proper replication.

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DNA is the genetic material which is actually found into living organism. DNA, or
deoxyribonucleic acid, is the hereditary material in humans and almost all other organisms.As
the DNA is almost to be found humans as all the cells of body. They are helpful in providing
the proper level of instructions regards to their respective growth, function and respond to
their respective environment. DNA is the long strings which is parried in chemical unit
differentiated into four level of types abbreviated as the A, T, C, G. This is helpful in card-
carrying all level of information in an organized manner into the units called as cells. The
four chemicals are named as the adenine, guanine, cytosine and thymine respective. The
consistency of human DNA is about the 3 million bases and more than 99% have the those
bases are considered to same in all properly.
The DNA have the pairing ups of different combination of A, T, C, G to have proper
formation of units as each unit is being attached to sugar and phosphatase molecules.
Nucleotides are arranged in two long strands that form a spiral called a double helix. The
structure of the former one same how about the double helix with bases pair forming the
ladder rungs and latter is having proper formations of vertical side pieces of the ladder,
The important property of DNA is that it can easily replicate and make respective
copies of themselves. The each stand of DNA have the formation of double helix which is
serving to be a pattern of more order duplication the sequence of base. This is considered to
be critical as the each new cell have formation of new patterns which is all about the copy
DNA present in old cell.
The DNA have the bioecological functions in which DNA polymer have direct level
of productiveness of other respective polymer which is call protein. All respective traits are
drive for the interactions of protein with each in surrounding environment. The next is about
the chromosome have the consistence of smaller segment as which is called as genes.

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The next function of DNA is that each gene is to further divided on to there
nucleotide sub segment which is called as codon. The codons of the DNA language are each
associated with specific amino acids.
Alteration of Genetic Material by Natural and Artificial Means
Various diseases are being caused by mutations which are basically inherited by
parents, can also been seen by individual during the time of birth. Some of the disease that
can be seen in child during when they are born is sickle cell disease. Other problems that are
being caused by acquired mutations in gene or group of genes can occur any time in person’s
life. Genetic disorders are basically caused by a mutation in only one gene cell. Mutation in
multiple genes are been caused by monogenic disorder. Multifactorial inheritance disorder is
been caused by combining mutation of genes and also taking in consideration the
environmental factors or by doing damage to chromosomes. Genetic disorder is been caused
by modifying the strucrural aspects of entirer chromosomes. These structuresd also carry
genes. It has also been analysed that all diseases which are been caused consists of genetic
components. Some of the diseases are been known as mutation that are basically inherited
and taken from parents (McColgan and Tabrizi, 2018). These disease are seen at the time of
child. There are also other type of mutations which are not being inherited from parents but
they occur because of some environmemtal factors or they can also occur randomly. If the
patient is engaged in smoking ciggerate then they can face problem of mutation. Many type
of cancers are also included in this and also forms of neurofibromatosis. There are various
types of genetic disease that is been caused because of change or abonromality in genes.
Some of the individuals faces this problem because they have inherited this from their
parents. Single gene gentic mutation is known as monogentic inheritance. There are various
single gene disorder. Some of the examples that can be taken as single gene disorder includes