GENETICS
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LEARNING QUESTIONS
Describe Physiological basis of gene and functions of DNA
and RNA
Wha
t is
Gen
e?
Double helix
structure
- Nucleotides:
Sugar
(Deoxyribose),
Phosphate,
Nitrogenous
base
- Base pairing:
A=T, C≡G
- Located
primarily in the
- Single-stranded
structure
- Sugar: Ribose
- Bases: A, U, G, C
- Types: mRNA,
tRNA, rRNA,
miRNA, siRNA
• Stores genetic
information
• - Template for
RNA synthesis
• - Regulates gene
expression
• - Inherited during
cell division
FUNCTIONS OF
DNA
- mRNA: Carries genetic code to ribosomes
- tRNA: Delivers amino acids
- rRNA: Forms ribosomes
- Regulatory RNAs: Control gene expression
Regulates cell
growth, repair,
and
differentiation
- Essential for
protein
synthesis
FUNCTIONS OF RNA - Influences
immune
RECAP
Feature DNA RNA
Strands Double Single
Sugar De-oxy Ribose Ribose
Bases A,T,G,C A,U,G,C
Stability High Low
Location Nucleus Nucleus +
Cytoplasm
Functions Storage Protein Synthesis
WHAT IS GENE?
A gene is a segment of DNA
Instructions for building a specific protein or set of proteins.
Passed from parents to offspring.
Present in Nucleus of cells, arranged on structures called
chromosomes.
Humans have 23 pairs of chromosomes (46 total), with ~20,000–
25,000 genes.
PARTS OF A GENE
Promoter Region: Initiates transcription of the gene.
Exons: Coding sequences that determine the amino acid sequence of the
protein.
Introns: Non-coding sequences interspersed between exons; removed
during RNA processing.
Terminator Sequence: Signals the end of transcription
During gene expression, DNA is transcribed into messenger RNA (mRNA),
which is then translated into a protein.
GENE:
Unit of genetic
material which
encodes specific
information for the
synthesis of
particular protein.
Promoter Region: Initiates
transcription of the gene.
Exons: Coding sequences
that determine the amino
acid sequence of the
protein.
Introns: Non-coding
sequences interspersed
between exons; removed
during RNA processing.
Terminator Sequence:
Signals the end of
transcription
GENES AND DISEASES
Genetic mutations can lead to various diseases:
Monogenic Disorders: Caused by mutations in a single gene (e.g., cystic
fibrosis, sickle cell anemia).
Chromosomal Disorders: Result from structural changes in chromosomes
(e.g., Down syndrome).
Multifactorial Disorders: Involve multiple genes and environmental factors
(e.g., heart disease, diabetes).
GENES ON HUMAN CHROMOSOMES
Human chromosomes house numerous genes responsible for
various functions:
Chromosome 7: Contains the CFTR gene; mutations cause cystic fibrosis.
Chromosome 11: Houses the HBB gene; mutations lead to sickle cell anemia.
Chromosome 17: Includes the BRCA1 gene; mutations increase breast cancer risk.
Mapping these genes helps in understanding genetic diseases and developing
targeted therapies.
GENE MAPPING
Gene Mapping identifies the specific locations of genes on
chromosomes.
Gene mapping is crucial for identifying disease-associated genes and
understanding genetic disorders.
Two main types are:
Genetic Mapping: Uses recombination frequencies to determine gene order.
Physical Mapping: Measures the physical distance between genes using
molecular biology techniques.
THE GENETIC CODE
The Genetic Code consists of nucleotide triplets, called codons, in DNA and
RNA.
Each codon specifies a particular amino acid or a stop signal during protein
synthesis. For example:
AUG: Start codon; codes for methionine.
UAA, UAG, UGA: Stop codons; signal the end of translation.
This code is nearly universal among organisms, highlighting the shared
evolutionary heritage of life.
INHERITANCE OF GENES
Humans inherit two copies of each gene, one from each parent.
These gene variants are called alleles.
The combination of alleles determines specific traits. Inheritance patterns
include:
Dominant: Only one allele is needed for the trait to be expressed.
Recessive: Both alleles must be present for the trait to be expressed.
Codominant: Both alleles are expressed equally.
GENES AND CHARACTERISTIC FEATURES
Genes influence a wide array of traits, from eye color to blood
type.
Eye Color: Determined by multiple genes affecting melanin production.
Blood Type: Controlled by the ABO gene on chromosome 9.
Height and Skin Color: Polygenic traits influenced by multiple genes and
environmental factors.
While some traits are strictly genetic, others result from gene-environment
interactions.
TREATING GENETIC DISEASES
Gene therapy involves modifying or replacing faulty genes to
treat or prevent disease.
Applications include:
Replacing Mutated Genes: Introducing healthy copies to restore function.
Inactivating Malfunctioning Genes: Disabling genes causing disease.
Introducing New Genes: Providing new functions to help fight disease
ANY QUESTIONS
THANK YOU
Scenario: A 10-year-old presents with anemia, jaundice,
and splenomegaly. Blood smear reveals spherocytes. A
defect in which membrane component is most likely?
Options:
A. Integral proteins
B. Spectrin
C. Cholesterol
D. Glycolipids
E. Actin
Scenario: General anesthetics disrupt lipid bilayer
fluidity. Which component modulates fluidity?
Options:
A. Integral proteins
B. Cholesterol
C. Glycolipids
D. Peripheral proteins
E. Cytoskeleton
Scenario: A patient presents with premature aging
symptoms. Genetic testing reveals a mutation in a
nuclear envelope protein. Which cellular process is most
likely disrupted?
A. ATP synthesis
B. DNA replication
C. Protein secretion
D. Lipid metabolism
E. Glycolysis
Scenario: An antibiotic inhibits the ribosome from
moving along mRNA. Which translation step is blocked?
A. Initiation
B. Elongation
C. Termination
D. Translocation
E. Charging
Scenario: A patient with carbon monoxide
poisoning presents with hypoxia. How does CO
enter cells?
A. Active transport
B. Facilitated diffusion
C. Simple diffusion
D. Secondary active transport
E. Endocytosis
Scenario: A study identifies an RNA that binds
oncogene mRNA to inhibit its expression. Which
RNA is involved?
A. tRNA
B. rRNA
C. mRNA
D. miRNA
E. snRNA
