Genetics and Genomics
Nurse preceptors majorly use evidence-based practices to assist new registered nurses in
a particular unit by offering very important feedback, setting their learning aims and objectives,
teaching hospital protocols, and encouraging critical thinking. It entirely takes the effort, time,
and proper education to become a nurse preceptor. Genetics is considered the study of heredity,
or how different characteristics of living organisms are transmitted from one generation to
another through DNA. Genes are the basic unit of heredity, while genomics is the study of the
entire set of a living organism’s genes, referred to as the genome.
Three-generation family pedigree and genogram for hemochromatosis
The three-generation pedigree offers a visual representation of the social and legal links
between family members as well as a map of their biological relationships from one generation
to the next. Various standardized figures are used in this representation to reflect sex, familial
relationships, status (alive or deceased), and health information. In contrast to written material,
the pedigree gives a visual representation of the proband's or consultand's medical history. It
unlocks in a new window details from the maternal and paternal lines, if applicable, as well as
other family members. Additionally, it offers a picture of disease trends that could be present
throughout generations and different family members. The karyotype (Opens in a new window)
is positioned beneath the diamond symbol in chromosomal anomalies, for instance, 46XY.
A horizontal line between two people in a genealogy represents their relationship. The
most frequent application of this relationship is to indicate marital status. Separation or divorce is
indicated by a slash or break in that line. A congenital couple opens in a new window and often
has two relationship lines connecting it.
On the pedigree, generations are shown vertically. The horizontal relationship line and
the horizontal sibship line are connected by a vertical bridge called the line of descent.
Hemochromatosis is an iron overload which is usually inherited from one generation to
another. It causes the human body to absorb excess iron from the erited from one generation to
another. It causes the human body to absorb excess iron from the food it eats. Every individual is
able to receive two sets of genes, one from their father and another from their mother. If both
parents have the faulty HFE gene, the child is at risk of hemochromatosis. If the child only
inherits the faulty gene from one of the parents, they are at great risk of passing the gene to their
children too. This person is referred to as a "carrier", but they will not be able to develop
hemochromatosis. If a child is born to two carriers, there is a 25% chance that the newborn will
have two normal copies of the HFE gene, preventing haemochromatosis and preventing carrier
status. The child has a one in two (50%) chance of inheriting one healthy HFE gene and one
defective one, making them carriers without developing haemochromatosis. There is a one in
four (25%) possibility that the infant may inherit two copies of the defective HFE gene and be
susceptible to developing hemochromatosis. However, having two copies of the defective gene
does not guarantee that a person will develop hemochromatosis. Only a small percentage of
individuals with two copies of the defective HFE gene will ever experience the illness for
unknown reasons.
Hemochromatosis inheritance explained in detail
The patient is the proband if he or she has certain hemochromatosis or any condition. The
patient is the consultant if he or she is looking for information about a sickness or condition that
runs in the family. The death of the subject is denoted by a diagonal line. I described the three
generations of the family in the first picture. which the mother's and father's grandparents are
first degree generations. The father had a brother and sister in the following generation, and the
sister, who is the aunt on the father's side, has hemochromatosis. On the other hand, the mother
has breast cancer and the mother's sister has a history of hemochromatosis on her mother's side.
These illnesses are either dominant or recessive in origin, and they will become dominant in one
or two generations. The client can be informed that by looking at a pedigree, we can detect
symptoms, ascertain genotypes, and forecast how hemochromatosis will be handed down in the
future. A pedigree's details can be used to establish an allele's mode of inheritance, including
whether it is dominant, recessive, autosomal, or sex-linked.
Alternately, if there is a number inside a diamond, it means that the family has that many
children from an unrecognized sex. This person's adoption status is shown by a symbol enclosed
in brackets and connected to a dotted line. Family members that share the same characteristics
might be represented by shaded or patterned symbols. If a family has many diseases or
conditions, they can be distinguished using different shading or patterning. A key should include
the state, corresponding shading, and pattern. Consequently, the presence of a family history of
genetic diseases and the risk of developing a genetic disorder are both indicators for genetic and
genomics services. patient with a mental illness, a developmental disability, an inherited
condition, or a birth flaw. Premature death in the family with cause and manner of death known
as early onset of cancer or hemochromatosis
References
Groner, V., Aufox, S., Leeth, E., Leuer, K. C., & Weisman, A. G. (2022). eP353: Testing for Y
chromosome in Turner syndrome. Genetics in Medicine, 24(3), S221-S222.
Viuff, M., Skakkebæk, A., Nielsen, M. M., Chang, S., & Gravholt, C. H. (2019, March).
Epigenetics and genomics in Turner syndrome. In American Journal of Medical Genetics
Part C: Seminars in Medical Genetics (Vol. 181, No. 1, pp. 125-132). Hoboken, USA:
John Wiley & Sons, Inc..