MENDELIAN

GENETICS
 HISTORY OF GENETICS
• Heredity – passing of traits from parents to their
offspring
- Children resemble their parents
- Breading of plants and animals
- All life forms come from other life forms
- Species do not cross in-between each other
 FOUDING FATHERS
• JEAN BAPTISTE LAMARCK (French, early
19th c.): “The Inheritance of Acquired
Characteristics”
- An organism can pass on characteristics
that it has acquired through use or disuse
during its lifetime to its offspring.
- Organisms become more complex and
progress in their environment.
 FOUDING FATHERS
• CHARLES DARWIN (English, 1859): Species
can change through the process of natural
selection
- ‘On The Origin of Spiecies’ – all species
descend from common ancestors
- - Pangenesis – every part of the body emits
tiny particles called gemmules which
migrate to the gonads and are transferred
to offspring
 FOUDING FATHERS
• GREGOR MENDEL (Austrian, 1865): Founder of
modern genetics
- Experimental discovery of inheritance of traits
from one generation to the next; genes as
material foundation of heredity
- ‘Experiments in Plant Hybridization’
 FOUDING FATHERS
• CELL THEORY (Hooke, Leewenhoek,
Schleiden, Schwann, Virchow)
- All living things are composed of one or more cells
- Cells are the basic units of structure and function in
living things (Schleiden and Schwann, 1839)
- New cells are produced from existing cells (Virchow,
1858)
 FOUDING FATHERS
• Thomas Hunt Morgan (1866-1945): Located
genes on chromosomes
- Developed modern genetics through
experiments on Drosophila melanogaster,
fruit fly becomes model organism
- In 1933 won the Nobel Prize for his work in
genetics
- ‘Evolution has taken place by the
incorporation into the race of those
mutations that are beneficial to the life and
reproduction of the organism’
 FOUDING FATHERS
• OSWALD AVERY (1877-1955) and colleagues
- Discovered in 1944 that DNA was the molecule
that contained genetic information
 FOUDING FATHERS
• JAMES WATSON (1928-) and FRANCIS CRICK (1916-2004):
“Cracked” the molecular structure of DNA in 1953
- Explained how the genetic codes were transferred from one
generation to another.
FOUDING FATHERS (AND MOTHERS)
• MAURICE WILKINS (1916-2004) and ROSALIND FRANKLIN
(1920-1958): made the crucial contributions to Watson and
Crick with their crystallography of DNA
• 1966: Marshall Nirenberg solves the genetic code,
showing that 3 DNA bases code for one amino acid.
• 1972: Stanley Cohen and Herbert Boyer combine DNA
from two different species in vitro, then transform it
into bacterial cells: first DNA cloning.
• 2001: Sequence of the entire human genome is
announced.
 BASICS OF INHERITANCE:
MENDELIAN GENETICS
• Genetics of qualitative characteristics (classical) - the study
of principles of inheritance of traits conditioned by specific
genes (by one locus)
• Genetics of cumulative traits (quantitative)
investigates the inheritance of traits conditioned by many
genes (quantitative traits)
• Trait - is the property of the organism, which can divide
individuals into classes, e.g. eye color, hair color, height,
body weight, a given condition genetically determined
• Gene - a factor responsible for the occurrence of a specific
trait (eye color, hair color)
• Allele - version of the gene responsible for the creation of
alternative features (dark eyes - blue eyes, light hair - dark
hair)
• Locus - the place occupied by the gene (allele)
• Zygote - an individual formed as a result of the fertilization
process, having two alleles of the gene - one allele
transmitted by the father and one by the mother

homozygote - has two identical alleles of a given gene

heterozygote - has two different alleles of a given gene
• Dominant allele - in heterozygote, masks the presence of
another allele of a given gene; marked with a capital letter of
the alphabet (A)
- dominant homozygote- has two dominant alleles (AA)
• Recessive allele - in heterozygotes its presence is masked by
the presence of the dominant allele; marked with a lower
case letter of the alphabet (a)
- recessive homozygote - has two recessive alleles (aa)
• Genotype - a set of genes of a given individual conditioning
his inherited properties; paired alleles
• Phenotype - a set of features possessed; in a narrow sense,
this is the value of the attribute in question, e.g. black fur
• Pure line - a set of individuals homozygous for a given
feature or traits
 Ist MENDELIAN LAW
• Law of segregation - purity of gametes
During the formation of gametes, only one allele of a given
type passes to one gamete
• We cross a dominant homozygote with a recesive
homozygote:
Gametes B B
b Bb Bb
b Bb Bb

In the F1 generation, we get heterozygotes containing the

dominant allele
• After crossing of two heterozygotes in the F2 generation,
the features are split in a ratio of 3: 1, with ¾ individuals
having pink flowers and ¼ individuals white
• Test crossing (reverse):
crossing an individual of unknown genotype with a recessive
homozygote (one of the parents)
Goal → check whether a given individual is a dominant
heterozygous or homozygote (both individuals are
phenotypically the same in complete domination)
• Aa x aa AA x aa
Male\Female a a Male\Female a a

A Aa Aa A Aa Aa

a aa aa A Aa Aa

Phenotypes 2:2, the Phenotypes 4:0, the

individual is heterozygous individual is dominant
homozygous
 IInd MENDELIAN LAW
• Law of independent assortment - applies to the
inheritance of two or more features

Alleles of two different genes go into the gametes

independently → two different features (color and shape)
inherit independently, unless the genes determining these
features are coupled, i.e. they are located in two different
chromosomes
• Crossing of pea varieties with yellow and smooth (AABB)
seeds with varieties of green and wrinkled (aabb) seeds
• We distinguish two groups of inheritance factors:
Y - yellow color of seeds (dominant)
y - green color of seeds
R - conditioning smooth shape of seeds (dominant)
r – conditioning wrinkled seeds

• F1 generation → gametes YR of one variant and gametes yr

of the second variant give YyRr individuals with yellow and
smooth seeds
• Generation F2 → YyRr individuals form 4 types of gametes -
YR, Yr, yR, yr, giving many allelic combinations after
fertilization
The ratio of genotypes: 1: 2: 2: 1: 4: 2: 1: 2: 1

The ratio of phenotypes: 9: 3: 3: 1

 CODOMINANCE
• Simultaneous presence in the phenotype of a heterozygote
of characteristics conditioned by both alleles of one gene
that are equivalent to each other – both traits are visible