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Essay Unit 22 - Genetics
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Criteria included- P4, P5, P6, M3, M4, D2, D3
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Genetics assignment 2Life chances is a social science concept that describes the opportunities that everyone has to
improve their quality of life. The concept was introduced by German sociologist Max Weber (United
Nations Economic and Social Commission for Western Asia, 2015).
Genetic predisposition refers to a higher possibility or likelihood of getting a specific disease due to
the existence of one or more genetic variations and/or a family history of the disease (National
Cancer Institute, 2022).
PIES – physical, social, emotional, and social development.
P4,M3, D2
Single-inheritance genetic diseases, Multifactorial genetic inheritance disorders, Chromosome
abnormalities, and Mitochondrial genetic inheritance disorders are the four primary categories of
genetic disorders. Genetic illnesses with a single line of heredity are rare. Cystic fibrosis,
hemochromatosis, Tay-Sachs, and sickle cell anaemia are some of the most frequent single-gene
illnesses. Despite the fact that these diseases are predominantly caused by a single gene, many
mutations can cause the same disease with variable degrees of severity and phenotype (Genetic
Alliance and Columbia, 2010). Cystic fibrosis is an example of a hereditary disease with a single
source of inheritance. The thick mucus produced by CF clogs certain organs, including the lungs,
pancreas, and intestines. Malnutrition, stunted growth, recurrent respiratory infections, breathing
issues, and chronic lung disease are all possible outcomes (Hopkinsmedicine.org, 2021). Sickle-cell
anaemia is another example of a single-genetic disease with a single inheritance. This is an illness
that is passed down through the generations. It results in irregularly formed red blood cells, which
are responsible for transporting oxygen throughout the body. Sickle cells that obstruct blood flow to
organs starve the organs of oxygen and blood. The blood with sickle cell anaemia is also chronically
deficient in oxygen. This shortage of oxygen-rich blood can harm nerves and organs, such as the
kidneys, liver, and spleen, and it can even be fatal (Mayo Clinic, 2022).
When more than one component causes a trait or health concern, such as a birth defect or
persistent illness, it is called a multifactorial genetic inheritance disorder. Genes can play a role, but
other factors, such as environment, can also play a role (Nationwidechildrens.org, 2022). Arthritis,
for example, can be passed down the generations due to abnormalities in collagen genes. Pain,
commonly known as arthralgia, is the most common symptom of arthritis. It could be a mild
discomfort or a burning sensation. Pain usually begins after you've utilised the joint a lot, such as
after you've been gardening or walking up a flight of stairs. Some folks have soreness in the morning
(Watson, 2013). Diabetes is another example of this, as it can be inherited through family history
and past incidences of the condition within families. Urinating frequently, hunger, weight loss,
sluggish wound healing, and blurry eyesight are some of the symptoms. If a parent or sibling has the
disease, you're more likely to have it. The development of type 2 diabetes has been linked to a
number of gene alterations. These gene variants can interact with each other and the environment
to enhance your risk (Tab Ackman, 2021).
Anomalies in the chromosome might be numerical or structural. A numerical anomaly occurs when
one of a pair of chromosomes is absent or when an individual has more than two chromosomes
instead of a pair. A structural abnormality occurs when the structure of a chromosome is altered in
one of several ways (Genome.gov, 2019). A disease known as Down syndrome, which is caused by
chromosome abnormalities, is a good illustration of this. Down syndrome is a chromosomal disorder
in which a child is born with an extra chromosome. Chromosomes are the body's little "packages" of
genes. They shape and function a baby's body as it develops during pregnancy and after birth. A
, baby is born with 46 chromosomes on average (CDC, 2021). Klinefelter syndrome is a chromosomal
defect that is another example. When a male is born with an extra copy of the X chromosome, he is
diagnosed with Klinefelter syndrome. Klinefelter syndrome is a male-specific hereditary disorder that
is frequently not recognised until adulthood (Mayo Clinic, 2019).
Finally, mitochondrial genetic inheritance diseases are the most common sort of genetic problem.
Mitochondrial diseases are chronic, hereditary, and often inherited conditions in which mitochondria
fail to provide enough energy for the body to function normally. A hereditary mitochondrial illness
affects one out of every 5,000 people. The symptoms, diagnosis, and management of the disease are
all described (Cleveland Clinic, 2018). Pearson syndrome is an excellent example of this. Pearson
syndrome is a serious condition that usually occurs in childhood. It disrupts the formation of blood-
forming (hematopoietic) cells in the bone marrow, which have the ability to differentiate into a
variety of blood cells. Pearson syndrome is classified as a bone marrow failure disorder as a result of
this (Medlineplus.gov, 2015). Another example can be found in Leigh's illness. Leigh syndrome is a
life-threatening neurological condition that usually manifests in the first year of life. This disorder is
marked by a gradual loss of mental and motor functions (psychomotor regression), and it usually
leads to death within two to three years, usually from respiratory failure (Medlineplus.gov, 2016).
Gene and reproductive technology can make a big difference in people's lives. For example, with IVF,
parents and health care professionals can select the best embryo from a pool of candidates to
guarantee that the baby has the best chance of a successful existence. Ovarian stimulation, egg
retrieval, sperm retrieval, fertilisation, and embryo transfer are all milestones in the IVF process. IVF
cycles might take anywhere from two to three weeks to complete. It's possible that more than one
cycle is required (Mayoclinic.org, 2021). They can discover if any genetic diseases are present, as well
as if they are predisposed to any, by selecting the best embryo through IVF. They can, for example,
tell if an embryo has Down's syndrome because it is there at conception. It will provide them the
best potential life chances if they choose an embryo with no genetic abnormalities. Genetic testing
can also aid to improve the foetus' chances of survival. Individuals in each community are tested to
see if they have an increased risk of having or developing a genetic disorder, or if they carry a genetic
variant for a particular disorder (National Cancer Institute, 2022). It is possible to increase favourable
life chances in numerous ways by employing genetic screening to discover any hereditary disorders.
If a new born has Cystic fibrosis, for example, the parents can research treatment alternatives and
choose the one they believe is best. They will be able to devise a health-care strategy to ensure that
the infant has the best possible chance of surviving.
Down’s syndrome
During pregnancy, Down's syndrome is frequently checked and tested. Because it is a chromosomal
issue, it can be detected at the time of conception. Down's syndrome, for example, can be detected
from the 10th to 14th weeks of pregnancy. The woman will undergo a combination test that includes
an ultrasound scan and a blood test as part of the screening. The fluid in the back of the baby's neck
will be measured during the scan. The mother's age, as well as the results of these two tests, can be
used to predict whether the unborn will have a chromosomal condition such as Down's syndrome.
The NIPT has a 99 percent accuracy rate in detecting Down's Syndrome in a foetus, compared to 84-
90 percent with the NHS's traditional 'combined test,' which includes an ultrasound scan and a blood
test (Ormond, 2015). A baby's family history can also be used to predict whether or not he or she
will be born with Down syndrome. If you have a lot of cases in your family, for example, you're more
likely to have a baby with down syndrome. If you or your family have a history of genetic or
chromosomal conditions like Down's syndrome, sickle cell disease, or thalassemia, there's a good
possibility your baby will have one as well (indirect, 2019).
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