Central point of cell / contains genetic coding for maintaining

life systems and issuing commands for growth & reproduction 2

The DNA molecule
“Double helix”
structure
proposed by
Watson and
Crick (1953)
 Nucleotide structure of
DNA RNA
Each nucleotide of DNA Each nucleotide of RNA
contains: contains:
Deoxyribose Ribose
Phosphate Phosphate
Nitrogen base (either A, Nitrogen base (either A,
G, C, T) G, C, U*)

*contains Uracil –
instead of Thymine
Each human cell contains roughly two meters of DNA
Chromatin is a complex of DNA, RNA, and protein found
in eukaryotic cells
• Euchromatin is lightly packed and is often (but not
always) under active transcription.
• Heterochromatin is a tightly packed form
of DNA or condensed DNA

5
A karyotype is the number and appearance of chromosomes
in the nucleus of an eukaryotic cell
The chromosomes of an organism are arranged into
homologous pairs according to size (with sex chromosomes
shown last)

6
DENVER SYSTEM OF CLASSIFICATION OF CHROMOSOMES

7
 FISH – Fluorescent in situ hybridization

• short or ‘p’ arm (from the French petit)

• long or ‘q’ arm (from the French queue).
9
 Genetics is the study of heredity and
variations

Heredity - the sum of all biological processes by

which particular characteristics are transmitted from
parents to their offspring

Gene expression is the process by which

information from a gene is used in the synthesis of a
functional gene product (proteins)
10
 Genetic Information
• Gene – basic unit of genetic
information. Genes determine the
inherited characters.

• Genome – the collection of

genetic information.

• Genotype - the set of genes

which is responsible for a
particular trait

• Phenotype is the physical

expression, or characteristics, of
11
that trait
 Types of Genes
1. House Keeping Genes (Constitutive Genes): constantly
expressing themselves in a cell
2. Non-constitutive Genes (Luxury Genes): are not
always expressing themselves in a cell. Two types:
• Inducible Genes: are switched on in response to the
presence of a chemical substance
• Repressible Genes: continue to express themselves
until a chemical (often an end product) represses their
activity.
3. Repeated Genes: occur in multiple copies because their
products are required in larger quantity
12
 Types of Genes
4. Single Copy Genes: are present in single copies
(occasionally 2-3 times).
5. Structural Genes: have encoded information for the
synthesis of chemical substances required for cellular
machinery.
6. Regulatory Genes (Regulatory Sequences): control the
functions of structural genes. The important regulatory
genes are promoters, terminators, operators and repressor
producing or regulator genes.
7. Tissue Specific Genes: expressed only in certain specific
tissues and not in others.
13
 Gene Functions:

 Genes are units of inheritance

 Genes carry the hereditary information from one
generation to the next
 They control the structure and metabolism of the
body
 Reshuffling of genes at the time of sexual
reproduction produces variations

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 Chromosome Logical Structure
• Locus – location of a gene on the
chromosome.

• Allele – one variant form of a gene

at a particular locus.
At each locus (except for sex
chromosomes) there are 2 genes
Locus1
Possible Alleles: A1,A2

Locus2
15
Possible Alleles: B1,B2,B3
 Human Genome
Human cells contain 46 chromosomes:

• 2 sex chromosomes (X,Y):

XY – in males.
XX – in females.

• 22 pairs of chromosomes named autosomes.

Diploid cells have two homologous copies

of each chromosome

Homologous chromosomes share:

• The same structural features
•The same genes at the same loci positions 16
will possess a single gene will possess two gene
copy (allele) for each trait copies (alleles) for each
trait
17
18
 Dominant vs. Recessive
Homozygote - an organism that has allelic genes of the same
molecular form.
Heterozygote - an organism that has allelic genes of different
molecular forms; in this case, one of the genes is dominant, the other is
recessive.

•A dominant allele is expressed even if it is paired with a

recessive allele.
•A recessive allele is only visible when paired with another
recessive allele.

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 Gregor Mendel
Mendel, an Austrian monk,
published (in 1866) his findings
on inheritance in peas. He
discovered the rules governing
“vertical” gene transmission.

He chose different
characteristics of the garden pea
which differed clearly in the
alternatives expressed
 Unique form of genetic record:
P - parental generation
F - offspring, the index of the letter indicates the
serial number of the generation
G - gametes
× - interbreed icon
A - dominant gene
a - recessive gene
AA - dominant homozygote
aa – recessive homozygote
Aa - heterozygote 21
 Mendel’s Law of Segregation of genes
Two members of a gene pair segregate from each other into
the gametes, so half the gametes carry one member of the
pair and the other half carry the other member of the pair.

Y/y y/y Gamete

production

Gamete
all y
production ½ y/y
½y

½ Y/y
½Y
22
Law of Dominance
 Monohybrid Cross vs. Dihybrid Cross
Monohybrid - difference Dihybrid - differences in
in one trait two traits
• parent organisms are • parent organisms are both
both homozygous dihomozygous
• but have different • One – AABB
alleles • Other – aabb
• One – AA • alleles are transmitted to
• Other – aa offspring independently
• F1 generation are all of one another
heterozygous – Aa • F1 generation are all
and dominant diheterozygous – AaBb
phenotype and dominant phenotype 24
 Law of Independent Assortment

Alleles for
separate traits
are passed
independently
of one another

9:3:3:1 ratio

25
 Gene Interaction
Allelic Gene
Interactions: Non Allelic Gene
Interactions:
• Incomplete Dominance
or Blending Inheritance • Complementary
(1:2:1) Factor
• Co-dominance • Epistasis
• Over-dominance • Polygenic Gene
Inheritance
• Lethal Factor (2:1)
• Multiple Alleles
26
 Incomplete Dominance

• A dominant allele may not

completely suppress other
allele
• a heterozygote has
intermediate phenotype
• the F2 progeny shows three
classes in the ratio 1 red: 2
pink: 1 white instead of 3:1

27
 Co-dominance:

both the alleles of a gene express themselves in the

heterozygotes

Co-dominance
28
 Over-dominance
• stronger trait manifestation in heterozygote,
but not in homozygote (Аа > АА)

• Heterosis – the tendency of a crossbred

individual to show qualities superior to those of
both parents.

29
 Lethal gene (homozygotes die)

Though recessive
lethals may code for
dominant or recessive
traits, they are only
fatal in the
homozygous condition

30
 universal donors
Multiple Alleles

The individual has 2 alleles of

the gene. But there may be more
than 2 different alleles in a
universal recipients
population.

• The gene for antigen may

occur in three possible allelic
forms – IA, IB, i.

31
 Non Allelic Gene Interactions:
•Complementary Factor
one dominant gene complements the action of another
dominant

•А – normal development of the cochlea

•В – normal development of the auditory nerve

•AABB, АаВв, ААВв и АаВВ – normal hearing

•ааВв, ааВВ, Аавв, ААвв – pathology.

 Cooperation:
in the presence of two dominant non-allelic genes, a trait
that is absent in parental forms develops

blue yellow

green

green blue yellow white

 •Epistasis:
allele of one gene inhibits the action of the allele of another gene
• the gene that inhibits - inhibitor or suppressor (I-suppressor)

Dominant epistasis (I > В, b) Recessive Epistasis (i > В, b)

In dominant epistasis, the majority of

In recessive epistasis, allele aa is
the individuals are affected.
dominant over BB or Bb
There is a 12:3:1 ratio.
 •Polygenic Gene
several alleles act on the manifestation of a single
trait (skin colour in human beings)
 Other Kinds of Gene Interactions:

• Pleiotropy – a gene has multiple effects

• Penetrance
Each oval represents an individual

Incomplete penetrance (< 100%)

•Expressivity

36
variable expressivity