Course: Human Anatomy I 8/1/2025

Course Code: NUS 113 Olayi D.O

Topic: INTRODUCTION TO GENETICS

Introduction
Like other living organisms, humans reproduce. And to ensures the continuation of their species
parent pass or transmit traits or genes to their offspring. Genes contain all the information needed
to develop a functioning organism and are found in the DNA of chromosomes contained in the
cell nucleus.
Genetics can simply be define as the study of heredity and variation. Variation refers to the
differences (structural and functional) among individuals observed in a given population or
family. Advanced in knowledge about genetics has help us discovered some disease and
developmental abnormally. Thus, the knowledge of genetics is important in medical counselling,
prevention and treatment or management of hereditable disease

Relevance/importance of Genetics
1. Human genetics provide critical understanding of the occurrences diagnoses and
treatment of various disorder and disease.
2. Human genetics have provided details about how genes are involved in genetic disorders
and thus lead to advances in improved therapeutic treatment or management of genetic
disorders and genetic counselling.
3. Human genetics has also contributed to vast development and advances in scientific
project like human genomic e.g. the human genome project has help us provide better
understanding of disease and process of new drug discovery and drug interaction.
4. Human genetics has help in the development of new and advance techniques like gene
colony and gene therapy.
5. It has help us to answer questions about family health history and to make informed
decision about choice of marriage etc.
Basic Concepts in Genetics
1. Chromosomes
Chromosomes are thread-like structures present in the nucleus of the cell. Chromosome contain
or houses the DNA, gene and other materials/protein such as histone. Typically, chromosomes
are not visible under the microscope because the genetic material is diffuse and hard to see. The
only time it become visible is during the process of cell division.
Every normal humans have 46 or 23 pairs of chromosomes, (23 from the mother and 23 from the
father). 22 pairs of these chromosomes (1 to 22) are called autosomes while the 23 rd or last pair is
called the sex chromosome or allosomes because they determine the individual's gender. In male,
the sex chromosomes are depicted as X and Y-chromosomes while females have XX. Thus, an
embryo/child inheriting two X chromosomes (XX), one from each parent is female, and a child
inheriting an X from his mother and a Y from his father (XY) is male.
Note: chromosome number 1 is the largest pair of all the chromosomes and Y chromosome is
much shorter than the X chromosome.
Each end of a chromosome is capped with a length of DNA called a telomere, which seals the
chromosome and is structurally essential. During DNA replication the telomere become
shortened, and tend to damage the chromosome. However, this damage is repaired with an
enzyme called telomerase. Aging with reduced telomerase activity may lead to cell senescence.

Each half of a chromosome is known as chromatid and they are joined in the middle by
centromere. A cell with 23 pairs of chromosomes is termed diploid. Gametes (spermatozoa and
ova) have only 23 chromosomes instead of 46, and is described as haploid. Chromosomes
belonging to the same pair are called homologous chromosomes. The complete set of
chromosomes from a cell is its karyotype.

2. Genes
Genes are the basic unit of heredity transferred from parent to child. Genes are made up of
sequences of DNA arranged, one after another, at specific locations on the chromosomes called
loci. Some DNA sequences does not actually code for protein. DNA sequences that code for
proteins are found along the length of the DNA and are called genes. Each gene allows the cell to
make one specific protein. The human genome is believed to contain about 20,500 genes.
 3. DNA (Deoxyribonucleic acid)
DNA is a double stranded molecule, made up of two chains of nucleotides. Nucleotides consist
of three subunits: a sugar, a phosphate group and a base. Structurally, the DNA is a double helix
likened to a twisted ladder, with the uprights formed by alternating chains of sugar and
phosphate units and the bases forming the rungs of the ladder. The two chains are twisted around
one another, giving a double helix (twisted ladder) arrangement. When uncoiled, the DNA in
each body cell measure about 2 metres long.
The double helix DNA is further twisted or highly wrapped around histones. (Histones are
proteins found in the chromosomes and important in maintaining the heavily coiled three-
dimensional shape of the DNA). The DNA-histone material is called chromatin, which is
supercoiled and packaged into the chromosomes shortly before the cell divides
DNA is responsible for carrying and transmitting the hereditary materials or the genetic
instructions from parents to offsprings. Genes are contained in the DNA

The genetic code and component of the DNA or Nucleotides

DNA carries a huge amount of information that determines all the biological activities and is
transmitted from one generation to the next. The key to how this information is kept is found in
the bases within DNA.
There are four bases:
 Adenine (A)
 Guanine (G)
 Thymine (I)
 Cytosine (C)

These bases are arranged in a precise order along the DNA molecule, making a base code that
can be read during protein synthesis. Each base along one strand of DNA pairs with a base on the
other strand in a precise and predictable way. This is known as complementary base pairing.
Adenine always pairs with thymine (and vice versa), while cytosine and guanine always go
together. The bases on opposite strands run down the middle of the helix and bind to one another
with hydrogen bonds.

Mitochondrial DNA
Each body cell has about, 5000 mitochondria that hold a quantity of DNA called mitochondrial
DNA. This DNA is passed from one generation to another from the mother. Certain rare
inherited disorders may arise from faulty mitochondrial DNA and therefore passed through
generations via the maternal line.

4. Mutation
Mutation is an alteration in the normal genetic make-up of a cell and that can be transmitted or
inherited. Most mutations occur spontaneously because of the countless millions of DNA
replications and cell divisions that occur normally throughout life. Others may be caused by
external factors, such as X-rays, ultraviolet rays or exposure to certain chemicals. Any factor
capable of mutating DNA is called a mutagen.
Most mutations are immediately repaired by an army of enzymes present in the cell nucleus, and
therefore cause no permanent problems. Sometimes is lethal because it disrupts some essential
cellular function, causing cell death. Often, the mutated cell is detected by immune cells and
destroyed. At other times however, mutations do not kill the cell but alter cell function in some
way that may cause disease, e.g. in cancer. A persistent mutation in the genome that has not led
to cell death can be passed from parent to child and may cause inherited disease. E.g.
phenylketonuria (A genetic disorder of metabolism characterized by lack of the enzyme needed
to turn phenylalanine into tyrosine resulting in an accumulation of phenylalanine in the
body fluids) and cystic fibrosis (a hereditary disease where the child's lungs and intestines and
pancreas become clogged with thick mucus; caused by defect in a single gene).

PROTEIN SYNTHESIS
Proteins are essential to all aspects of body function. It forms the major structural elements of the
body, as well as the enzymes essential for all biochemical processes. The end product of protein
is amino acid. There are about 20 different amino acids. Since the DNA is too large to leave the
nucleus, an intermediary molecule (RNA) is needed to carry the genetic instructions from the
nucleus to the cytoplasm where proteins are made or synthesized. This intermediary molecule is
called messenger ribonucleic acid. (mRNA)

Messenger ribonucleic acid (mRNA) is a single-stranded chain of nucleotides synthesized in the

nucleus from the appropriate gene, whenever the cell needs to make the protein for which that
gene codes. Structurally, RNA is different from DNA in three main ways:
I. It is single-stranded instead of double-stranded.
II. It contains the sugar ribose instead of deoxyribose.
III. It uses the base uracil instead of thymine.

Using the DNA as a template, a piece of mRNA is made from the gene to be used. This process
is known as transcription. The mRNA then leaves the nucleus through the nuclear membrane or
nuclear pores and carries its information to the ribosomes in the cytoplasm.

DNA replication
DNA is the only biological molecule capable of self -replication. Mistakes in copying may lead
to production of non-functioning or poorly functional cells, or cells that do not respond to normal
cell controls (this could lead to the development of a tumour). Therefore, accurate copying of
DNA is therefore essential.
The initial step in DNA replication is the unfolding of the double helix and the unzipping of the
two strands to expose the bases, as happens in transcription. Both strands of the parent DNA
molecule are copied. The enzyme responsible for DNA replication moves along the base
sequence on each strand, reading the genetic code and adding the complementary base to the
newly forming chain. This means that each strand of opened bases becomes a double strand and
the end result is two identical DNA molecules. As each new double strand is formed, other
enzymes cause it to twist and coil back into its normal highly folded form.

Transcription
The code is buried within the DNA molecule and so the first step is to open up the helix to
expose the bases. Only the gene to be transcribed is opened; the remainder of the chromosome
remains coiled. Opening up the helix exposes both base strands, but the enzyme that makes the
mRNA uses only one of them, so the mRNA molecule is single-stranded not double-stranded. As
the enzyme moves along the opened DNA strand reading its code, it adds the complementary
base to the mRNA. Therefore, if the DNA base is cytosine, guanine is added to the mRNA
molecule (and vice versa); and if it is thymine, adenine is added; if it is adenine, uracil is added
(remember there is no thymine in RNA, but uracil instead). When the enzyme reaches a 'stop'
signal. it terminates synthesis of the mRNA molecule, and the mRNA is released. The DNA is
zipped up again by other enzymes and the mRNA then leaves the nucleus.

Translation
Translation is synthesis of the final protein using the information carried on mRNA. It takes
place on free ribosomes in the cytoplasm and those attached to rough endoplasmic reticulum.
First, the mRNA attaches to the ribosome. The ribosome then 'reads' the base sequence of the
mRNA. Proteins are built from up to 20 different amino acids and so it is not possible to use the
four bases individually in a simple one-to-one code.
To give enough options, the base code in RNA is read in triplets, giving a possible 64 base
combinations, which allows a coded instruction for each amino acid. Each of these specific
triplet sequences is called a codon; e.g., the base sequence ACA (adenine, cytosine, adenine)
codes for the amino acid cysteine. The first codon is a start codon, which initiates protein
synthesis. The ribosome slides along the mRNA, reading the codons and adding the appropriate
amino acids to the growing protein molecule as it goes. The ribosome continues assembling the
new protein molecule until it arrives at a stop at which point it terminates synthesis and releases
the new protein. Some new proteins are used within the cell itself and others are exported, e.g.
insulin synthesized by pancreatic islet cells is released into the bloodstream.

The genetic basis of inheritance

Autosomal inheritance
Each of a pair of homologous chromosomes contains genes for the same traits. For example, the
ability to roll one's tongue is coded for on a single gene. Because one chromosome of each pair is
inherited from the father and one from the mother, an individual has two genes controlling the
ability to roll the tongue. Such paired genes are called alleles. Corresponding alleles contain
genes concerned with the same trait but they need not be identical. An individual may have:
• two identical forms of the gene (homozygous)
• two identical or different forms of the gene (heterozygous).
One copy of the tongue-rolling gene may code for the ability to roll the tongue, but the
corresponding gene on the other chromosome of the pair may be a different form and code for
inability to tongue roll. This simple example involves only two forms of the same gene but other
characteristics are more complex.
A child that inherits a tongue-rolling gene from one parent and the non-rolling gene from the
other will still be able to roll their tongue. This is because the tongue-rolling form of the gene is
dominant and takes priority over the non-rolling gene, which is recessive.
Dominant genes are always expressed (active) in preference over recessive genes, and only one
copy of a dominant gene is required for that characteristic to be expressed. A recessive gene can
be expressed only if it is present on both chromosomes, i.e. individuals unable to tongue-roll
have two copies of the recessive, non-rolling gene. Individuals homozygous for a gene have two
identical copies, of either the dominant or the recessive form. Heterozygous individuals have one
dominant and one recessive gene.

Punnett square
The probability of inheriting either form of a gene depends on parental make-up. Simple
autosomal inheritance can be illustrated using a Punnett square.
For example, the table above shows all the possible combinations of the tongue-rolling gene in
children whose parents are heterozygous for the trait. From this example, there is a 3 in 4 (75%)
chance that the child of these parents will be a tongue-roller (IT or Tt), and only 1 in 4 chance
that they would inherit two recessive genes (tt), making them a non-roller. Therefore, with this
pattern, prediction of the probability that a baby will be born with an inherited disease, e.g. cystic
fibrosis, forms the basis of genetic counselling.

Co-dominance
For some traits, there can be more than two alleles that code for it and more than one allele can
be dominant. An example of this is the inheritance of A and B type antigens on the surface of red
blood cells, determined clinically as the ABO system of blood grouping.
There are three possible alleles here: one allele codes for production of A type antigens (A), one
allele codes for production of B type antigens (B) and a third allele codes for no antigen at all
(o).
An individual may have any combination of two of these three alleles: AA, AB, BB, Ao, Bo or
oo. Both A and B are dominant and both express themselves wherever they are present. This is
called co-dominance. O is recessive, and so only expresses itself in a homozygous recessive
genotype.
This means that individuals with an oo genotype have neither A nor B antigens on their red cell
surface and are blood group O. An individual with genotype AB has both A and B and is blood
group AB. An individual with genotype Ao or AA has only A type antigens and is blood group
A; someone with genotype Bo or BB has only B type antigens and is blood group B.
Example: Punnett square illustrating the possible blood types of children produced by a mother
with genotype Ao (phenotype blood group A) and a father with genotype AB (phenotype blood
group AB).
Sex-linked inheritance
The Y chromosome is much smaller than the X chromosome. The Y chromosome carries only
200 genes compared with the X chromosome's 2000, most of which are involved in the
development of male-specific characteristics, and the vast majority of genes on the X
chromosome are not matched on the Y. This means that a male has only one copy of most of the
genes on his sex chromosomes. Traits coded for on the section of the X chromosome that has no
corresponding material on the Y are said to be sex-linked. The gene that codes for normal colour
vision is one example, and is therefore carried on X chromosomes only.

Class work:
State Mendel’s first and second laws of inheritance as stated in the class.