2+2+3, 5 AKTS (40 min x 2, 80 min)

MBG110 – BASIC GENETICS Thursday, 14:40- 16:20, AB508

+ Lab, 1st Section: Tuesday, 08:50- 10:30, AB505
WEEK SUBJECT Lab, 2nd Section: Tuesday, 10:30- 12:10, AB505
1 Introduction to Basic Genetics SEMESTER NO OF WEIGHT
2 Genetic Material: DNA and RNA REQUIRMENT ACTIVITY
3 Gene and Genome Quiz (Lab) 4 20%
4 Chromatin Compaction Midterm Exam 1 30%
Final Exam 1 50%
5 Cell Division and Cell Cycle
6 Cell Cycle Control System NOTE LETTER GRADE DATE SUBJECT
7 Mendelian Genetics 90-100 AA 05.03.2024 History of Genetics
12.03.2024 Introduction to Heredity
8 Midterm Exam 85-89 BA
19.03.2024 Model Organisms
9 Mendel’s Law of Inheritance 80-84 BB
26.03.2024 Pedigree Analysis
10 Non-Mendelian Genetics – 1 75-79 CB 02.04.2024
11 Non-Mendelian Genetics – 2 65-74 CC 23.04.2024 Quantitative Inheritance
30.04.2024
12 Genetic Linkage & Extracellular Inheritance 55-64 DC
07.05.2024 Linkage Analysis
13 Sex Determination 45-54 DD 14.05.2024
14 Mutations 00-44 FF 21.05.2024 Overview
INTRODUCTION TO
BASIC
GENETICS

Assoc. Prof. Elif Aylin Özüdoğru

Spring 2024, İstanbul
[email protected]
BIOLOGY: THE STUDY of LIFE

1. WHOLE ORGANISMS
2. ORGANS
3. TISSUES
4. CELLS
5. INTRACELLULAR ORGANELLES
6. CHEMICAL COMPONENTS
What is Life made of? All living things are made of Cells!

Before the 17th

century, noone knew
that cells have
existed.

1. All living things are made of cells.

2. The cell is the basic unit of life.
3. Cells arise from pre-existing cells.
Cells may be prokaryotic or eukaryotic

before nucleus true

Prokaryotes vs. Eukaryotes
 Common Features in All Cells

• Small
Prokaryotic Cells • Cell membrane Eukaryotic Cells
• Smaller • Cytoplasm • Bigger
• Simpler • Ribosome • More complex
• No true nucleus • DNA / RNA • True nucleus
• No membrane-bound • Metabolism • Membrane-bound
organelles • Cell division organelles
• Limited growth
 1. All living things are made of cells.
2. The cell is the basic unit of life.
3. Cells arise from pre-existing cells.

THE MODERN CELL THEORY

1. The energy of organisms is formed in the

cells.
2. Cells contain DNA (in the chromosome) and
RNA (in the nucleus and cytoplasm).
3. Hereditary information (DNA) is passed on
from cell to cell.
4. All cells have the basic chemical
composition.
Life depends on 3
critical molecules:

• DNA
• RNA
• Protein
There are four important properties of a molecule to be a genetic material:

1. Replication: Replication of genetic material is a fundamental feature of all

living organisms and is part of the cell cycle.

2. Storage of information: Genetic material should

contain all the hereditary features of an organism,
which is coded as genes.
3. Expression of information: The expression of stored information is a
complex process and forms the basis of the flow of information in the cell.

4. Diversification by mutation (variation): Genetic material is also the source

of new diversity between organisms through mutations. If the mutation
occurs in gametes, it is transmitted to future generations and spread over
time in the population. Genetic diversity, including recombination within and
between chromosomes, is the raw material of evolution.
• GENETICS - The study of the mechanisms by which the living organisms
pass their characteristics to their offsprings.
E.g., eye color, hair color, height, body
build, blood types, intelligence,
gender, etc.

• HEREDITY - Characteristics that a child receives from both parents.

 Cell is the basic unit of all living matter (Adult = over 10
trillion cells). The substance of a cell outside the nucleus
is called cytoplasm.

Nucleus is the central point of cell / contains genetic

coding for maintaining life systems and issuing commands
for growth & reproduction.

Chromosomes are composed of DNA and

proteins.
• How many chromosomes • How many chromosomes
are there in each cell are there in germ cells
of humans? (reproductive cells, egg
and sperm) of humans?
46 or 23 pairs (2n)
23 (n)

Genes are bands on chromosomes.

• MITOSIS: Cell divides by copying the DNA - cell
splits - new cell with normal number of
chromosomes (Cell growth & repair)

• Produces two diploid daughter cells.

• Produces daughter cells that ARE genetically
identical.

• MEIOSIS: Creates 1/2 sets of chromosomes

• Women = 23 Men = 23 Combined = 46

• Produces four haploid daughter cells.

• Produces daughter cells that are NOT genetically
identical.
Gender is determined by the father!
• DOMINANT Gene: More powerful - trait seen in person.
• RECESSIVE Gene: Weaker and hides in the background. Trait can only
determine when two of them are present - may show up in future
generations.
• CARRIER: Has a recessive gene that is not visible.
• SEX-LINKED: Mother passes the recessive X to daughter / son.
• Color-blind male receives the trait from his mother.
• The mother is usually not color-blind herself.
• SEX-LINKED: Mother passes the recessive X to daughter / son.
• Color-blind male receives the trait from his mother.
• The mother is usually not color-blind herself.
MULTIPLE BIRTHS

• ZYGOT: the cell that is formed when a sperm fertilized an egg (ovum)
MULTIPLE BIRTHS
More than 1 baby
May be identical, fraternal or both.
May be different or the same
gender.

• MONOZYGOT:
Identical Twins 1 Egg + 1 Sperm
•Fertilized ovum splits into 2 identical cells
•Always the same gender

• DIZYGOT:
Fraternal Twins 2 Eggs + different Sperm
•Will look different
•May be different or the same gender
MULTIPLE BIRTHS

• CONJOINED (Siamese) TWINS: Ovum splits apart, but the separation is

not completed. Babies are joined at some part of their bodies.
What 4 FACTORS may contribute to Multiple Births?

• 1) History in the family

• 2) Increased natural hormones
• More than 1 egg released
• 3) Fertility Drugs
• More than 1 egg released
• 4) Age 32-36

• Likelihood of multiple pregnancies in the United States

• Twins: Blacks- 1 in 73 Whites 1 in 93
• Triplets: 1 in 10,000
• Quadruples: 1 in 620,000
Genetics is divided into four branches:

1) Transmission genetics:
– Transmission of genes from generation to generation.

2) Molecular genetics:
– Structure and function of genes at the molecular level.

3) Population genetics:
– Distribution and behavior of genes within and between populations.

4) Quantitative genetics:
– Heredity of traits in groups of organisms associated with multiple traits.
1) Transmission Genetics:

- Transmission of genes from generation to generation.

• Mendel’s pea experiments (e.g., white & purple flowers)

• Two copies of each gene, one from each parent
• Homozygous: same allele; heterozygous: different alleles
• Dominant, recessive, incompletely dominant
2) Molecular Genetics:
- Structure and function of genes at the molecular level.
DNA, genes, chromosomes

• DNA (deoxyribonucleic acid) is the genetic

material for both prokaryotes and
eukaryotes; viruses may have RNA genomes.

• DNA has two chains, each made of

nucleotides composed of deoxyribose sugar, a
phosphate group, and a base. All together
they form a double helix.
• Specific sequences of nucleotides (i.e., genes)
pass traits from parents to offspring.

• GENOME: total amount of genetic material in

nuclear chromosomes.
3) Population genetics:
– Distribution and behavior of genes within and between populations.

• What is the observed level of genetic variation in populations?

• How allele frequencies change over time?
• What models can explain the change in allele frequencies?

FORCES OF EVOLUTION:
• Mutation: heritable changes in the genetic material
• Recombination: exchange of genetic material
• Selection: favoring particular combinations of genes in a given environment
4) Quantitative genetics:
– Heredity of traits in groups of organisms associated with multiple traits.

• Continuous traits display a range of phenotypes?

• Is the trait polygenic?
• How much environmental factors influence the range of trait characters?
• What is the heritability of the trait?

Example of a genetic map, showing some of the genes on

chromosome 2 of the fruit fly, Drosophila melanogaster

Genetic maps are used to understand whether genes with

related functions or with similar expression profiles located in
proximity to each other. They also help in cloning and
sequencing genes of interest or in genome projects (e.g.,
Drosophila, human).
Thanks for your
patience and
attention