Genetics Syllabus (Fall 2024)

1. History of Genetics (Theories, Domestication)(Videos, Short Articles)

2. Genetic Material, Cell Cycle, Mitosis and Meiosis
3. Mendelian Genetics: Cross-Pollination, Common concepts, Dominant, Recessive,
4. Mendelian Genetics: Co-dominant, Incomplete dominant
5. Mendelian Genetics; Crossing, Backcrossing, Probability, Punnett square
6. Extension of Genetics; Gene Interactions, Epistasis
7. Extension of Genetics; Suppression, X-linked inheritance
8. Extension of Genetics; Extranuclear DNA
9. Chromosomal Mutations
10. Mapping, QTL Analysis
11. Human Genetics: Chromosomal abnormalities, Genetic Diseases, Pedigrees
12. Mouse Genetics
Midterm 1: 20 % Midterm 2: 20 % Final: 50 % Performance: 10%
Exam Days

Midterm first: 5 November 2024

Midterm second: 17 December 2024
Final: 7 January 2025
​What is genetics?

Genetics is the branch of biology concerned with the study of inheritance,

including the interplay of genes, DNA variation, and their interactions with
environmental factors.

Genetics overlaps with many other areas, such as agriculture, medicine,

and biotechnology.

A gene is a segment of DNA that contains instructions for building one or

more molecules that help the body work.

DNA is shaped like a corkscrew-twisted ladder, called a double helix.

The two ladder rails (backbones) and the rungs are pairs of four building
blocks (adenine, thymine, guanine, and cytosine) called bases.

The sequences of these bases provide the instructions for building

molecules, most of which are proteins.

Humans have about 20,000 genes.

All of an organism’s genetic material, including its genes and other elements
that control the activity of those genes, is its genome.
Mendelian (Classical) Genetics

Non-Mendelian Genetics

Medical Genetics

Human Genetics (Human Molecular Genetics)

Mouse Genetics

Viral Genetics / Bacterial Genetics

Plant Genetics

Yeast Genetics

Population Genetics

Quantitative Genetics

Cancer Genetics

Fish Genetics

Reproductive Genetics

Behavioral Genetics
History of Genetics

goes back 1000s of years

plant and animal domestication are evidence that our ancestors had some basic genetic knowledge

Domestication = artificial selection of variants in a population to suit certain needs

Domestication is the process of adapting wild plants and animals for human use

8000-10000 BC
horses, camels, oxen (öküz), dogs were domesticated for various roles

7000-5000 BC
plant cultivation started corn, wheat , rice & date palm were domesticated

Domestication shows that traits are passed from generation to generation and that by selecting
for desirable traits (against undesirable traits)

Our ancestors could develop a plant or animal variety with desired characteristics awareness of
heredity and ability to alter genetic material by selection.

Domestic species are raised for food, work, clothing, medicine, and many other uses.

Domesticated plants and animals must be raised and cared for by humans.

Domesticated species are not wild.

Plant Domestication

People first domesticated plants about 10,000 years ago, between the Tigris and Euphrates
rivers in Mesopotamia (which includes the modern countries of Iran, Iraq, Turkey, and
Syria).

People collected and planted the seeds of wild plants. They made sure the plants had as much
water as they needed to grow and planted them in areas with the right amount of sun. Weeks
or months later, when the plants blossomed, people harvested the food crops.

The first domesticated plants in Mesopotamia were:

wheat (Triticum aestivum),
barley (Hordeum vulgare),
lentils (Lens culinaris or Lens esculenta),
types of peas.

People in other parts of the world, including eastern Asia, parts of Africa, and parts of
North and South America, also domesticated plants.

Other plants that were cultivated by early civilizations included rice (Oryza sativa in Asia)
and potatoes (Solanum tuberosum in South America).

Plants have not only been domesticated for food.

Cotton plants were domesticated for fiber, which is used in cloth.

Some flowers, such as tulips, were domesticated for ornament or decorative, reasons.
Animal Domestication

About the same time they domesticated plants, people in Mesopotamia began to tame animals for
meat, milk, and hides. Hides, or the skins of animals, were used for clothing, storage, and to build
tent shelters.

Goats were probably the first animals to be domesticated, followed closely by sheep (Ovis aries).
In Southeast Asia, chickens (Gallus domesticus) also were domesticated about 10,000 years ago.
People began domesticating larger animals, such as oxen (Bos taurus) or horses (Equus ferus
caballus), for plowing and transportation.

Domesticating animals can be difficult work.

The easiest animals to domesticate are herbivores that graze on vegetation because they are
easiest to feed:
They do not need humans to kill other animals to feed them or to grow special crops.
Cows, for instance, are easily domesticated.
Herbivores that eat grains are more difficult to domesticate than herbivores that graze because
grains are valuable and also need to be domesticated.
Chickens are herbivores that eat seeds and grain.

Some animals domesticated for one purpose no longer serve that purpose. Some dogs (Canis lupus
familiaris) were domesticated to assist people in hunting, for instance.
There are hundreds of domestic dog species today. Many of them are still excellent hunters, but
most are pets.
Throughout history, people have bred domesticated animals to promote certain traits.

Domestic animals are chosen

for their ability to breed in captivity and
for their calm temperament
for their ability to resist disease and survive in difficult climates is also valuable.

Over time, these traits make domestic animals different from their wild ancestors.
Dogs were probably domesticated from gray wolves (Canis lupus).
Domesticated animals can look very different from their wild ancestors.

For example, early wild chickens weighed about 0.9 kilograms.

But they have been bred to be larger over thousands of years of domestication.

Larger chickens yield more meat.

Today, domestic chickens weigh as much as 7.7 kilograms.

Wild chickens only hatched a small number of eggs once a year, while domestic chickens
commonly lay 200 or more eggs each year.
Effects on Humans

Domestication marked a major turning point for humans:

- the beginning of an agricultural way of life and more sedentary communities.
Humans no longer had to wander to hunt animals and gather plants for food.
It's important to understand, however, that while hunter-gatherers did not grow crops, they
tended plants in allotted areas.
Once grown, the plant could then be collected as food.

Agriculture—cultivating domestic plants—allowed fewer people to provide food for the community.
The stability that came with regular, predictable food production led to increased population
density.
The world's first villages and cities were built near flood plains where fields of domesticated
plants could be grown more easily.

Plant domestication also led to advances in tool production.

The earliest farming tools were hand tools made from stone.

People later developed metal farming tools and eventually used plows pulled by domesticated
animals to work fields.
FAST FACT
Dogs and Wolves

Though today's dogs were likely domesticated from

gray wolves, they are now a distinct species.

Dogs' scientific name is canis lupus familiaris, while

the scientific name for gray wolves is canis lupus.

FAST FACT A dog (Canis lupus familiaris) wears a costume during

Wild Horses Carnival celebrations in Venice, Italy. Dogs were
originally domesticated to assist people in hunting.
There are hundreds of domestic dog species today,
The process of domestication continues. but most are pets.

Cowboys and other horse experts train horses (Equus

ferus caballus).

Sometimes, this is called "breaking" a horse.

Training a horse to allow a saddle and rider requires

an enormous amount of physical work, training, and Columbines (hasekiküpesi)
patience. The white-and-lavender columbine (Aquilegia
caerulea) is the state wildflower of Colorado,
United States. However, horticulturalists have
Horses that are born on ranches or in stables still successfully domesticated the columbines in this
photo for large blooms and rich color.
need to be trained, although training a young horse is
easier than domesticating a horse caught in the wild.
Ox Cart in India Wheat Harvest
Oxen (Bos taurus), like this one, were one of the first animals to be The domestication of wheat (Triticum aestivum), like these fields
domesticated. Oxen are very strong, healthy animals that are used in Las Rosas, Argentina, was crucial to the development of
for agriculture, industry, and, occasionally, transportation. Here, an civilization. People first domesticated wheat and other plants in
ox cart pulls a man in Secunderabad, India. the fertile area between the Tigris and Euphrates rivers in what
is now Iraq.
 Cat Diversity

Wildcats (Felis sylvestris) are small cats native to Europe, Asia, and Africa.

They are adapted to a variety of habitats, including savannah, open forest, scrubland, swamp, and
farmland.

Throughout history, wildcat adaptability and proximity to humans has increased.

The wildcat's self-domestication is thought to have coincided with the rise of farming communities.

This serves as an example of human-cat coevolution.

As grain harvests increased, so did rodent populations.

Rodents then became an even more important part of the wildcat's diet.

These factors may have driven wildcats to evolve into a separate domesticated species (Felis catus) or
subspecies (Felis sylvestris lybica) between 9,000-10,000 years ago.

Today, there are over 600 million domestic cats living as pets throughout households on six different
continents.
Animal Domestication

Horse
First horses were domesticated by the Botai Culture of Kazakhstan (6000 BC)

Domestic horses: for food and milk (as analysis of organic residues found in broken
pots found traces of horse milk)

Domestic horses bred with local wild horses and spread throughout Europe and Asia

The earliest evidence that horses were used under harness (for riding)
(3500-3000 BC )(the teeth of horses found in Kazakhstan).

Drawings of horses pulling chariots in Mesopotamia (2000 BC)

The earliest records of horses being ridden on a terracotta mould (toprak kap)
from Mesopotamia (2000-1800 BC),

Paintings in a tomb in Egypt (1600-1400 BC).

The early stages of domestication were marked by a rapid increase in coat color variation.
 Throughout human history;

The domestication of the horse has had a significant impact on

transport,

agriculture,

communication

warfare
One of the most important transitions in human history is the domestication of
animals, especially wolves

Long-term association between wolves and hunter–gatherers >15,000 years ago

Genetic studies show that all ancient and modern dogs share a common
ancestry and descended from an ancient, now-extinct wolf population and
it is distinct from the modern wolf lineage
Selective Breeding
Plant Domestication
Corn
The history of modern-day maize begins about 10,000 years ago.

Ancient farmers in Mexico took the first steps in domesticating maize when they simply
chose which kernels (seeds) to plant.

Not all plants were the same.

Some plants may have grown larger than others,

Some kernels tasted better

Some kernels easier to grind.

The farmers saved kernels from plants with desirable characteristics and planted them
for the next season's harvest.

This process is known as SELECTIVE BREEDING or ARTIFICIAL SELECTION.

Maize cobs became larger over time, with more rows of kernels ( a form of modern maize)
 Maize cobs show the evolution of modern maize over thousands
of years of selective breeding.

Not: Even the oldest archaeological samples bear an unmistakable

resemblance to modern maize.
Local groups of farmers selected for characteristics that they preferred,
and that worked best in their particular environment.

Over thousands of years, selective breeding generated the broad diversity

of corn varieties that are still grown around the world today.
Small changes to single genes with dramatic effect is the earliest events in
maize domestication.

Modern varieties are descended from a single ancestor.

The small changes had dramatic effects (also explains the sudden
appearance of maize in the archaeological record)

Later changes in the evolution of modern maize involved many genes

(perhaps thousands) with small effects.

These minor changes include the following:

i) Types and amounts of starch production

ii) Ability to grow in different climates and types of soil
iii) Length and number of kernel rows
iv) Kernel size, shape, and color
v) Resistance to pests
 Hippocrates & Aristotle had theories about inheritance which were valid
until 1600s when more was learned about biology

Ancient Greece:

Hippocrates (c. 460–c. 375 BCE), known as the father of medicine, believed
in the inheritance of acquired characteristics, hypothesis known as
pangenesis.

He postulated that all organs of a parent’s body gave off invisible “seeds,”
which were like miniaturized building components and were transmitted
during sexual intercourse, reassembling themselves in the mother’s womb
to form a baby.

Hippocrates
 Aristotle (384–322 BCE) emphasized the importance
of blood in heredity. He thought that the blood
supplied generative material for building all parts of
the adult body and blood was the basis for passing on
this generative power to the next generation.

The male’s semen was purified blood and that a

woman’s menstrual blood was her equivalent of
semen.
Aristotle
These male and female contributions united in the
womb to produce a baby.

The blood contained some type of hereditary

essences,

Aristotle believed that the baby would develop under

the influence of these essences, rather than being
built from the essences themselves.
 1600-1850s many new theories about life:

Atomic Theory = all matter made up of atoms: John Dalton

Cell Theory = all organisms composed of cells: Matthias Schleiden &
Theodor Schwann
 Robert Hooke, an English scientist, discovered a
honeycomb-like structure in a cork slice using a
primitive compound microscope.

• The classical cell theory was proposed by Theodor

Schwann in 1839.

• all organisms are made of cells.

• cells are the basic units of life.
• cells come from preexisting cells that have multiplied
(Rudolf Virchow in 1858)
Fixity of species = animal & plant groups unchanged since appearance on
Earth

According to Charles Darwin's theory of evolution by natural selection,

organisms that possess heritable traits that enable them to better adapt to
their environment compared with other members of their species will be more
likely to survive, reproduce, and pass more of their genes on to the next
generation.
 • Charles Darwin “On the Origin of
Species” 1859
• existing species arose by descent with
modification from ancestral species

• Alfred Russel Wallace

independently proposed same theory

• Weakness in theory = no knowledge of genetic basis of

variation & inheritance
 Theory of heredity: Gregor Mendel: experiments 1856-1863,
“Experiments with Plant Hybrids” published 1866

Gregor Mendel
Theory of Heredity
Mendel used statistics to show patterns underlying inheritance & propose work which was
ignored until partially repeated by Correns, de Vries & Von Tschermak ~1900
Early 20th century: chromosomes discovered (under microscope)

Walter Sutton and Theodore Boveri

Dr Sutton suggested that an organism has half the number of chromosomes in sex cells that it
has in its body cells.

Chromosomal theory of inheritance (Boveri-Sutton Chromosome Theory) = The Mendelian laws

of inheritance could be applied to chromosomes at the cellular level of living organisms.

Inherited traits controlled by genes on chromosomes & chromosomes transmitted through

gametes to future generations.
1920s scientists were aware of proteins and DNA (major compounds of
chromosomes) and believed that proteins are carriers of genetic
infomation!

In 1944, O Avery, C McLeod, M McCarty showed DNA is carrier of

genetic information in bacteria. Dr. Avery isolated DNA as the material
of which genes and chromosomes are made

Viruses (bacteriophages or phage) that infect and kill cells of E.coli

1953, Great discovery of 20th century

Wilkins, Watson and Crick= The double helix
1962, Nobel Price
 Watson and Crick discovered the structure of DNA in 1953.

Watson, Crick, and Wilkins were awarded the 1962 Nobel Prize in Physiology or
Medicine "for their discoveries concerning the molecular structure of nucleic
acids and its significance for information transfer in living material".

Within 5 years of the discovery of the double helix;

Experimental Evidence

The separation of the DNA alone can function as

complementary strands the template for the
during DNA replication synthesis of new DNA
strands
Watson Volkan Hoca is here
 A timeline showing the development of genetics from
Gregor Mendel’s work on pea plants to the current era of
genomics and its many applications in research, medicine
and society.
Gave name genetics based on Greek term ‘ to generate’
Q1:Two examples of what makes our genomes unique

Q2: How advances in understanding our genomes

impact our lives, such as current and future research
into medical treatments.
Some Definitions & Basic Concepts
Chromosome Structure:

-viruses & bacteria = long, usually circular DNA molecule organized into genes,
found in nucleoid region in bacteria, in viral head (capsid) in viruses

-eukaryotes = linear DNA molecule + associated proteins, organized into genes

and nongenic regions, found in nucleus

Chromosome number:

most eukaryotes are diploid so have diploid number (2n) chromosomes/somatic

cell—

Humans 2n =46,

Dog 2n =78,

Drosophila 2n = 8

minimum found in subspecies of ant females have 2n = 2

maximum found in a species of fern 2n = 1260

chromosomes are arranged in pairs;

homologous chromosomes,

have same length,

position of centromere & arrangement of genes,
pair with each other during meiosis

number of different chromosomes in a diploid = haploid number (n)

In human 23 different chromosome but 2 sets

( 1 set is haploid number)

yeast is haploid during most of its life cycle

Polyploid organisms have >2 sets of chromosomes, especially common in plants

Some tissues in human are polyploid which tissue?

Chromosome Number

Homologous
chromosomes

Humans Ophioglossum vulgatum

2n = 46 (dil otu)
2n = 1260

Polyploidy arises as the result of total nondisjunction of

chromosomes during mitosis or meiosis.

Polyploidy is common among plants and is a major source of

speciation in the angiosperms (FLOWERING PLANTS)

Myrmecia pilosula Up to half of the known angiosperm species arose through

2n = 2 polyploidy.
Ploidy: the number
of sets of
chromosomes in a
cell, or in the cells
of an organism.

yeast banana potato

haploid triploid tetraploid
n 3n:27 4n
(9 different chromosomes)

wheat strawberry
hexaploid octoploid
6n (bread wheat) 8n
 Polyploidy:

Seedless watermelon (Triploid) Banana (Diploid)

Triploid crops: apple, banana, citrus, ginger, watermelon

Tetraploid crops: apple, macaroni wheat, cotton, potato, peanut, tobacco, kinnow

Hexaploid crops: bread wheat, tricale, oat, kiwi

Octaploid crops: strawberry

Dodecaploid crops: some sugar cane hybrids

Apples and kinnows can be diploid, triploid, or tetraploid.
Allopolyploid: an individual or strain whose chromosomes are composed of
more than two genomes (different species)(more or less complete but
possibly modified from one of two or more species)

(Yun. allos: diğer; polys: çok; aploos: bir kat; eidos: şekil) Genetik olarak
birbirinden farklı kromozom takımlarının bir araya gelmesi ile oluşan poliploit
organizma. Alloploit.

--Allopolyploids is the result of multiplying the chromosome number in an F1

hybrid.

Triticale is an example of an allopolyploid, having six chromosome sets,

allohexaploid, four from wheat (Triticum turgidum) and two from rye (Secale
cereale)(Cavdar).
Sterile
 X

Wheat (4n) Rye (2n)

Triticale (6n)
Amphidiploids: an interspecific hybrid having a complete diploid
chromosome set from each parent form —
The induction of polyploidy is a common technique to overcome the sterility of
a hybrid species during plant breeding.

Triticale is the hybrid of wheat (Triticum turgidum) and rye (Secale cereale).

The initial hybrids are sterile.

After polyploidization (alteration of sexual reproduction process), the hybrid

becomes fertile and propagated to become triticale.

Many seedless fruit varieties are seedless as a result of polyploidy (STERILE).

Polyploidy in crop plants is most commonly induced by treating seeds with the
chemical colchicine.
Amphidiploidy: an organism, cell, or nucleus that contains diploid sets of
chromosomes originating from two different species, called
also allotetraploid

Crosses between taxonomically unrelated organisms are usually infertile,

principally because the chromosomes lack a partner with which to pair
during meiosis.

However, if there is a doubling of the parental sets of chromosomes,

pairing can take place within each set, and meiosis may proceed to produce
fertile gametes.
 Old World cotton (n=13) Wild American cotton (n=13)

American cotton (n=26)

- Old World Cotton has 13 pairs of large chromosomes,

- Wild American Cotton has 13 pairs of small chromosomes.
- American cotton (Gossypium) has 26 pairs of chromosomes (13 are large
and 13 are smaller sized chromosomes)

The doubling of the chromosome number and generation of a fertile

amphidiploid: 26 pairs of chromosomes and other characteristics of the
cultivated variety of cotton, Gossypium.
J. O. Beasley (ancestral confirmation) crossed the Old World strain
with the Wild American strain and treated the resulting hybrid with
colchicine.
Abstract

Gossypium herbaceum, a cultivated diploid cotton species (2n = 2x = 26, A1A1), has
favorable traits such as excellent drought tolerance and resistance to sucking
insects and leaf curl virus.

Gossypium australe, a wild diploid cotton species (2n = 2x = 26, G2G2), possesses
numerous economically valuable characteristics such as delayed pigment gland
morphogenesis (which is conducive to the production of seeds with very low levels
of gossypol as a potential food source for humans and animals) and resistance to
insects, wilt diseases and abiotic stress.

Creating synthetic allotetraploid cotton from these two species would lay the
foundation for simultaneously transferring favorable genes into cultivated
tetraploid cotton.
Here, we crossed G. herbaceum (as the maternal parent) with G. australe to
produce an F1 interspecific hybrid and doubled its chromosome complement with
colchicine, successfully generating a synthetic tetraploid.

The obtained tetraploid was confirmed by morphology, cytology and molecular

markers and then self-pollinated.

The synthetic allotetraploid will be quite useful for polyploidy evolutionary studies
and as a bridge for transferring favorable genes from these two diploid species
The
. S1 seedlings derived from this tetraploid gradually became flavescent
after the fifth true leaf emerged, but they were rescued by grafting and
produced S2 seeds.

The rescued S1 plants were partially fertile due to the existence of

univalents at Metaphase I of meiosis, leading to the formation of unbalanced,
nonviable gametes lacking complete sets of chromosomes.

The S2 plants grew well and no flavescence was observed, implying that
interspecific incompatibility, to some extent, had been alleviated in the
S2 generation.
Allopolyploidy: amphidiploids

Brassica napus (Turpgiller) Triangle of U: theory of evolution

and generation of brassica

9 10
Interspecific breeding allowed for the creation of three new species of tetraploid Brassica.

Turpgiller

AA – 2n=20 – Brassica rapa – turnip, Chinese cabbage n: 10

BB – 2n=16 – Brassica nigra – black mustard n: 8
CC – 2n=18 – Brassica oleracea – broccoli, Brussels n: 9

AABB – 2n=36 – Brassica juncea – Indian mustard n: 18

AACC – 2n=38 – Brassica napus – rapeseed, rutabaga n: 19
BBCC – 2n=34 – Brassica carinata – Ethiopian mustard n: 17

Allotetraploid (contain four genomes, derived from two different ancestral species).

They are also amphidiploid, (contain one diploid genome from each of the two
different Brassica species).
There are 17 000 varieties of apples.

Most of the apples grown comercially are probably diploid but there are many
triploid varieties.

For ex: «Gravenstein» apples are triploid with a chromosome number of 51

(3n=51). They produced by union of a diploid egg and a haploid sperm. This is
accompalished by crossing a tetraploid plant (4n=68) with an ordinary diploid
plant (2n=34).
Because triploid varieties are sterile, they must be propagated by grafting,
where the cultivars are grafted to hardy, pest resistant root stalks.
Seedless bananas are produced on triploid plants.

Most bananas that we purchased from supermarket arise from

sterile triploid hybrids
Polyploidy: Tetraploids

Peanut
Alfalfa
Coffee
Three types of polyploid cells: instance-aware semantic segmentation algorithm.
-the yellow labels indicate multinucleated/cellular polyploid cells
-the blue labels indicate 4n polyploidy
-the green labels indicate 8n polyploidy
Polyploid giant cancer cell from breast.
Fluorescence light micrograph of a
polyploid giant cancer cell (PGCC) from a
triple-negative breast cancer.

PGCCs, a subtype of cancer cell, appear

in a variety of solid tumours and appear
to help them invade surrounding tissues
and migrate to other areas of the body
(metastasis).

Studying the formation and function of

PGCCs may help develop new cancer
treatments.
The other cellular components
highlighted here are actin (red),
mitochondria (green), and nuclear DNA
(blue).
 •Polyploidy, a condition in which
cells contain more than two sets of
homologous chromosomes, is a well-
known feature of mammalian
hepatocytes.

•Polyploidy is defined on the basis

of the DNA content of each nucleus
(nuclear ploidy; for example, 2n,
4n or 8n) and the number of nuclei
per cell (cellular ploidy).

•The adult liver contains a

heterogeneous mixture of diploid
and polyploid hepatocytes.

•The liver is one of the few

mammalian organs that display
changes in ploidy during normal
homeostasis, during regeneration
and in response to damage.

•The polyploid state could provide

Polyploid Liver Cells protection from tumorigenesis by
providing extra copies of tumour
suppressor genes.
Genetic diversity in hepatocytes through polyploidization
Human embryonic kidney 293 (HEK293) :

HEK293 cells are hypotriploid, and about 30% of HEK293 cells have a
modal ploidy of 64 chromosomes, but some cells have even more
chromosomes.

The cells also have three copies of the X chromosome and a 4-kilobase pair
fragment of adenovirus 5 integrated into chromosome 19.
HeLa cells have 82 chromosomes, with four copies of chromosome 12
and three copies of chromosome 6,8 and 17.
Euploid: having a balanced set or sets of chromosomes, in any
number.

Euploids may be as diploid, triploid, tetraploid, or polyploid.

Aneuploid: Having an abnormal number of chromosomes not an exact

multiple of the haploid number, as contrasted with abnormal
numbers of complete haploid sets of chromosomes, such as diploid or
triploid, etc.
Aneuploidy interferes with growth and development

Sea Urchin Sea Urchin Embryo: Larvae development

Maize

Worm

Yeast
Mouse
Trisomy

Datura

12 trisomics with variation in capsule

morphology
Monosomy

Turner syndrome = monosomy of X

Trisomy

Down syndrome: trisomy 21 Maternal age & Down syndrome

Gene = functional unit of heredity, a specific location on a chromosome,
piece of DNA that gives rise to a product or action, stores information, can
be replicated, expressed & mutated

Alleles = alternative forms of a gene

Genotype = genetic composition of an individual

Phenotype = physical appearance of an individual

DNA = deoxyribonucleic acid = genetic material in all living organisms &

most viruses organized into genes & stores genetic information double
helix with each strand a polymer of nucleotides: adenine, thymine, guanine,
cytosine

2 strands are complementary: A & T pair with 2 H-bonds, G & C pair with 3
H-bonds information from DNA transferred to RNA via transcription
• RNA = ribonucleic acid, carries genetic information out of
nucleus into cytoplasm where information is translated into
proteins.

Differences between RNA & DNA=

ribose instead of deoxyribose sugar,
uracil instead of thymine,
usually single stranded.

• Proteins = polymers of amino acids, have diverse functions,

determine biochemical identities of cells & influence trait
expression order of amino acids and 3 dimensional structure
determine function flow of genetic information:
transcription translation
flow of genetic information:

transcription translation
DNA RNA Protein
Approaches to Study Genetics
 Transmission genetics = study of patterns of inheritance of traits
controlled matings to analyze transmission of trait from parents to
progeny

Also Pedigree Analysis—used for human studies because controlled matings

not
possible, patterns of inheritance studied using pedigrees

Cytogenetics = study of chromosomes

Karyotype = chromosomes of an individual arranged in a specific

order, used to detect genetic abnormalities

Molecular Genetics = study of nature, expression, replication and

regulation of genes

Population Genetics = study of genetic variation in populations & how & why
genetic changes occur in populations
Transmission Genetics (Mendelian Genetics):

Controlled matings (cross, pollination)

Molecular Genetics

Population Genetics
 Impact of Genetics on Society

Plant breeding = genetic improvement of plants

Benefits:
increased vigor (güç) & yield (verim),
increased resistance to diseases and pests,
production of hybrids with superior traits
hybrid vigor (active healthy well-balanced growth),
selection of favorable variants,
improved nutritional quality.
Plant Breeding

Increased yield Hybrid vigor

Time required for generating novel plant varieties through
existing breeding strategies
Disease resistance Variant types (dwarf)
Cassava is the third largest source of food carbohydrates in the
tropics, after rice and maize.

Cassava is a major fiber food in the developing world, providing a

basic diet for over half a billion people.

It is one of the most drought-tolerant crops, capable of growing

on marginal soils.

Used also as Biofuel, Animal feed, Laundry starch, Medicinal use