College of Medicine
Second course
Stage 1
Introduction to Genetics
Nucleic acids; Nucleotides and
Nitrogen bases
Human Genetics:
• Human genetics is the branch of biology that studies how traits are inherited and expressed
in humans. It focuses on genes, chromosomes, and DNA, and how they influence physical
characteristics, development, and health.
• Human genetics explains how traits such as eye color, height, and blood type are passed from
parents to offspring. It also helps us understand genetic disorders, which may be inherited or
caused by mutations in DNA, such as Down syndrome or sickle cell anemia.
• This field is very important in medicine, as it allows doctors to diagnose genetic diseases,
assess the risk of inherited conditions, and develop targeted treatments. It also plays a role in
genetic counseling, helping families understand the chances of passing certain conditions to
their children.
why is genetics important:
• Genetics is important because it helps us understand how traits are inherited, how the body
functions, and how diseases develop. It explains why individuals differ in appearance,
behavior, and susceptibility to certain conditions.
• In medicine, genetics plays a key role in diagnosing and treating diseases, especially inherited
disorders such as cystic fibrosis or sickle cell anemia. It also supports the development of
personalized medicine, where treatments are tailored to an individual’s genetic makeup.
• Genetics is also essential in fields like agriculture and biotechnology, where it is used to
improve crops, increase food production, and develop new medical therapies. Additionally,
studying genetics helps scientists understand evolution and the relationships between different
organisms.
Nucleic acids:
• Nucleic Acids (NA) are polymers made up of repeating monomers
(nucleotides), and they are responsible for transmitting the
characteristics of a species from one generation to the next. There are
two types of nucleic acids, ribonucleic acids (RNA) and deoxyribonucleic
acids (DNA).
Composition of NA?
• Nucleic Acids are made of nucleotides which are composed of three parts:
• Phosphoric acid (phosphate group).
• The smaller part called (nucleoside = a pentose sugar and a heterocyclic
compound (nitrogen base) The heterocyclic compounds (nitrogen base) are
derivatives of either pyrimidine or purine.
• Importance of nucleotides?
Nucleotides involved in synthesis of NA. Also play a central role in the
metabolism at the cellular level. They carry chemical energy in the
form of the nucleoside triphosphates ATP, GTP, CTP and UTP
throughout the cell in many cellular functions that demand energy,
which include synthesizing amino acids, proteins and cell membranes .
In addition, nucleotides participate in cell signaling (cGMP and cAMP),
and are incorporated into important coenzymes of enzymatic reactions
(e.g. coenzyme A, FAD, NAD, and NADP+).
• The structure of DNA?
• DNA molecule consists of two chains of polynucleotides.
• Each chain is coiled in a right-hand helix, and the two chains wind around each other to form
a (double helix).
• The double helix is stabilized by the (hydrogen bonds) between pairs of complementary bases
on opposite strands (A=T; G≡C). There for 2 strong hydrogen bonds between A and T and (3
bonds between G and C).
• The sequence of bases in the structure of DNA that contains the genetic information of a
particular species.
• Genetic information must be reproduced exactly each time a cell divides. This is done by
making an exact copy of DNA molecule. (The process by which DNA molecules reproduce
themselves in the molecules of cell is called DNA replication).
• The structure of RNA?
• RNA contains ribose instead of 2-deoxyribose as the sugar
• The base uracil (U) is present in RNA instead of thymine (T).
• RNA is made up of a single polynucleotides chain rather than a double helix.
• The genetic information carried by DNA is incorporated into the structure of
RNA. The RNA molecules use this information to specify and synthesize the
amino acid sequence in proteins.
• The enzyme RNA polymerase catalyzes the reaction that joins the
nucleotides together into the RNA chain with elimination of pyrophosphate.
• Types of RNA?
• DNA is used as a template to make three kinds of RNA:
• rRNA: ribosomal RNA is the largest in both size and amount between
60 and 80% of the total RNA in cells. rRNA combines with protein to
form (ribosomes the intracellular substructure where proteins are
synthesized = protein factory).
• Messenger RNA (mRNA): genetic information needed for protein
synthesis is transcribed from DNA into mRNA.
• Transfer RNA: the Smallest of the three kinds of RNA is (tRNA).
• The genetic code?
• The genetic information needed for protein synthesis is
transcribed from DNA to mRNA. Translation is the process by
which the three-base code in mRNA is turned into a 20-unit code
needed to specify the amino acid sequence in proteins. Translation
occurs by using a specific sequence of three nucleotide bases on
mRNA called (a base triplet or codon).
central dogma:
• The central dogma of molecular biology describes the two-step
process, transcription
• and translation, by which the information in genes flows into proteins:
DNA → RNA → protein.
• Transcription is the synthesis of an RNA copy of a segment of DNA.
Proteins Synthesis:
The DNA is used as atemplate to make three kinds of RNA:
messenger RNA (mRNA), transfer RNA (tRNA), and ribosomal RNA (rRNA)
Transcribes rRNA
tRNA genetic code
Amino acid
tRNA
containing amino Incorporated into
Binds to ribosomes
acid
ribosomes
Translation
Protein
- The primary function of tRNA is to bring to the ribosomes the amino acids to be incorporated into the
protein.
- Each of the 20 amino acids is transported by a different tRNA.
- All tRNA have a similar shape.
- Two parts of tRNA molecule have important biological functions.
- The (First) is the site where the specific amino acid is joined (3´ end).
- The (Second) part is the loop at the bottom of the molecules.
This loop contains a specific three-base sequence that represents a specific code for the amino acid carried
by the tRNA. This three-base region is called (anticodon
• Translation and the Genetic Code:
• The genetic information needed for protein synthesis is transcribed from DNA to
mRNA. Translation is the process by which the three-base code in mRNA is turned
into a 20-unit code needed to specify the amino acid sequence in proteins.
Translation occurs by using a specific sequence of three nucleotide bases on mRNA
called (a base triplet or codon).
•
Translation :
1. Edited mRNA attaches to a ribosome
2. As each codon of the mRNA molecule moves through the ribosome, the tRNA brings the proper amino
acid to the ribosome. – Notice the anticodon on tRNA – it is complementary to the mRNA codon –
The amino acids are joined together by chemical bonds called peptide bonds to build an amino acid chain
called a “polypeptide”
Protein synthesis:
Protein synthesis begins when the codons on an mRNA molecule combine with the complementary
bases of the anticodons of tRNA. Molecules of mRNA carry the genetic information from DNA to the
ribosomes. When attached to the ribosomes, they direct protein syntheses .The size of an mRNA
molecule depends on the size of the protein it is directed to make.
This sequence of steps continues until one of the three codons
UAA, UAG or UGA is reached. These are the stop signals that
terminate protein synthesis on the mRNA chain.
Mutations:
A mutation is any chemical or physical change that alters the sequence of bases in a DNA
molecule.
When the change involves single base in DNA it is called a (point mutation).
Some point mutation may occur spontaneously; others result from ultraviolet light,
ionizing radiation, or a variety of chemical compounds. Anything that causes mutation
is called a (mutagen).
Point mutation cause the synthesis of proteins with defects in their amino acid sequence.
Types of point mutation:
1) Insertion: involves the addition of one or more extra nucleotides besides those already present in a DNA
chain.
2) Deletion: one or more nucleotides is missing from the normal sequence in DNA. The change in
amino acid sequence caused by insertion or deletion occurs during the translation of mRNA.
1) Substitution of one base for another.