ELIZADE UNIVERSITY, ILARA-

MOKIN
FACULTY: Basic and Applied Sciences
DEPARTMENT(S): Nursing Science
ACADEMIC PROGRAMMES: Bachelor of Nursing Science (BNS)
YEAR: 2022-2023 academic session
SEMESTER: Second semester

Course
Course code: NSC 308 Course title: General and Cellular Pathology
Credit unit: 2 Course status: Compulsory

Course Co-ordinator: Charles Emeka Okolie, PhD

Engineering and Environmental Sciences Building,
Elizade University, Ilara-Mokin, Ondo State.
E-mail: charles.okolie@elizadeuniversity.edu.ng,
charlesokolie2015@gmail.com
Mobile Phone and WhatsApp: 08060241166

Module 2 Unit 3. Genetic anomalies and associated diseases

Chromosomes
Chromosomes are threadlike structures made of protein and a single
molecule of DNA that serve to carry the genomic information from cell to cell.
In plants and animals (including humans), chromosomes reside in the nucleus
of cells. Humans have 22 pairs of numbered chromosomes (autosomes) and
one pair of sex chromosomes (XX or XY), for a total of 46. Each pair contains
two chromosomes, one coming from each parent, which means that children
inherit half of their chromosomes from their mother and half from their father.
Chromosomes can be seen through a microscope when the nucleus dissolves
during cell division.

Number and size of chromosomes

Chromosomes vary in number and shape among living organisms. Most
bacteria have one or two circular chromosomes. Humans, along with other
animals and plants, have linear chromosomes . In fact, each species of plants
and animals has a set number of chromosomes. A fruit fly, for example, has
four pairs of chromosomes, while a rice plant has 12 and a dog, 39. In
humans, the twenty-third pair is the sex chromosomes, while the first 22
pairs are called autosomes. Typically, biologically female individuals have

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two X chromosomes (XX) while those who are biologically male have one X
and one Y chromosome (XY). However, there are exceptions to these rules.
Chromosomes are also different sizes. The human X chromosome is about
three times larger than the human Y chromosome, containing about 900
genes, while the Y chromosome has about 55 genes. The unique structure of
chromosomes keeps DNA tightly wound around spool-like proteins, called
histones. Without such packaging, DNA molecules would be too long to fit
inside cells! For example, if all of the DNA molecules in a single human cell
were unwound from their histones and placed end-to-end, they would stretch
6 feet.

FIGURE 1. The Chromosome. CREDIT: Sarah A. Bates, M.S., M.A.

(Chromosome (genome.gov))

Genome, chromosomes and genes are related as follows:

 A genome is an organism’s complete set of DNA. This includes the
DNA that code for behavioural traits and and the DNA regions that are not
known to code for any function (often called non-coding or support DNA).
 Chromosomes are found in every cell of the body and contain genes
(coding DNA) and non-coding DNA.
 Genes are the basic physical and functional unit of heredity. They are
the sequence of DNA that codes a protein. The functional protein is what
drives the behavioural trait that can be identified.
 DNA is responsible for building and maintaining your human structure.
All DNA are structural. A sequence of DNA that codes for function is called
a gene.
 Genes are segments of your DNA, which give you physical
characteristics (structure and function) that make you unique.

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FIGURE 2. Relationship between genome, chromosomes and genes

Genetic diseases
 Disease resulting from abnormality in the genome that is either inherited
or acquired.

Symptoms of genetic diseases

Symptoms depend on the type of disorder and are highly variable.

Causes of genetic diseasse

May be caused by inherited genetic abnormalities such as single gene defects,
acquired mutations, or chromosomal abnormalities.
It can be caused by a mutation in a single gene (monogenic) or multiple
genes (polygenic) or by a chromosomal abnormality. Although polygenic
disorders are the most common, the term is mostly used when discussing
disorders with a single genetic cause, either in a gene
or chromosome.[1][2] The mutation responsible can occur spontaneously
before embryonic development (a de novo mutation), or it can
be inherited from two parents who are carriers of a faulty gene (autosomal
recessive inheritance) or from a parent with the disorder (autosomal

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dominant inheritance). When the genetic disorder is inherited from one or both
parents, it is also classified as a hereditary disease. Some disorders are
caused by a mutation on the X chromosome and have X-linked inheritance.
Very few disorders are inherited on the Y chromosome or mitochondrial
DNA (due to their size).

Treatment of genetic diseases

Treatment or management may include medication, therapy, surgery,
transplantation and use of other aids such as orthotic or technological devices.

Common Types of Genetic diseases

Examples of diseases located on each chromosome is shown below (Fig. 3).

FIGURE 3. Diagram of the human chromosome set showing the location of

some genes whose mutant forms cause hereditary diseases. Conditions that
can be diagnosed using DNA analysis are indicated by a red dot.
SOURCE: Ігор Пєтков https://commons.wikimedia.org/w/index.php?curid=57928376

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Genetics of recessive and dominant patterns of inheritance
Autosomal recessive is a pattern of inheritance characteristic of some genetic
disorders. “Autosomal” means that the gene in question is located on one of
the numbered, or non-sex, chromosomes. “Recessive” means that two copies
of the mutated gene (one from each parent) are required to cause the
disorder. In a family where both parents are carriers and do not have the
disease, roughly a quarter of their children will inherit two disease-causing
alleles and have the disease. Recessive and dominant patterns of
inheritance are illustrated below (Fig. 4).

FIGURE 4. Autosomal dominant and recessive inheritance

Recessive inheritance pattern

Hereditary defects in enzymes are generally inherited in an autosomal
pattern because there are more non-X chromosomes than X-chromosomes,
and a recessive fashion because the enzymes from the unaffected genes are
generally sufficient to prevent symptoms in carriers. The key thing about
recessive disorders is that we all have two copies of every gene: one from
mom, one from dad. For some, but not all genes, you really only need one
working copy, and so it's only when both copies don't work that problems can
occur. The most common way that people end up with two nonworking copies
of a gene is when they get one each from mom and dad. Outside of sickle cell
disease (SCD), other common autosomal recessive diseases include cystic
fibrosis and very many of the genetic diseases that, at least in the United
States, are screened for as part of newborn screening programs.
Typical examples of recessive inheritance are manifest in sickle cell disease
and thalassemias (Module 2 unit 4 for details).
Autosomal recessive inheritance for affected enzyme is illustrated below (Fig.
5).

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FIGURE 5. Autosomal recessive inheritance. CREDIT: Mikael
Häggström, M.D

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Dominant inheritance pattern
By contrast, an autosomal dominant disorder requires only a single copy of
the mutated gene from one parent to cause the disorder. Hereditary defects
in structural proteins (such as osteogenesis imperfecta, Marfan's syndrome
and many Ehlers–Danlos syndromes) are generally autosomal dominant,
because it is enough that some components are defective to make the whole
structure dysfunctional. This is a dominant-negative process, wherein a
mutated gene product adversely affects the non-mutated gene product within
the same cell. Autosomal dominant inheritance for structural protein is
illustrarted below (Fig. 6).

FIGURE 6. Autosomal dominant inheritance. CREDIT: Mikael

Häggström, M.D

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LIKELY EXAMINATION QUESTIONS
1. Describe the relationship between DNA, Genes & Chromosomes
2. Compare Sickle Cell Anaemia and Thalassemia

BIBLIOGRAPHY
1. https://my.clevelandclinic.org/health/body/23064-dna-genes--chromosomes
2. Chromosome (genome.gov) pleasee listen to the audio tape
3. Autosomal Recessive Disorder (genome.gov) pleasee listen to the
audio tape.

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