Faculty of

Medicine
Medical
Education-
Damietta
University

Level 1
Semester 1
Module 1B
Instructor information:

Name : Dr Hazem Moh Abdullah

Official e-mail.: drhazem_abdullah@du.edu.eg

Mobile Number: 01146710982

Office hours: any time

Principles of Heredity
Contents
• Gene (concept, structure)

• Patterns of Inheritance: Mendelian and Non-Mendelian

Inheritance.

• Clinical examples of Autosomal dominant, Autosomal

recessive, X-linked inheritance.

• Clinical examples of Non-Mendelian Inheritance

Learning outcomes
At the end of the lecture, the students
should be able to:
1. Identify gene concept & structure.

2. Explain different principles & patterns of heredity.

3. List & recognize the different Mendelian inheritance patterns.

4. Draw a pedigree for a given family and label it.

5. List & recognize the non-traditional patterns of inheritance.

6. Correlate different patterns of inheritance with genetic diseases.

 Principles of Heredity
ILO-1
Identify gene concept & structure.

• What is lovely face for?

• How a child get it?
What is DNA ? Blueprint of life
Genetic Diversity…
• Different arrangements
of NUCLEOTIDES in a
nucleic acid (DNA)
provides the key to
DIVERSITY among living
organisms.
 What is a chromosome?
A chromosome is molecule of DNA. DNA is the hereditary material of the cell.
 What is their number?
Human cells

Somatic cell Germ cell

Any cell which is not part of = gamete i.e
the germ line
Sperm or ovum

Diploid Haploid
Chromosome set with two Cell containing only one
copies of each chromosome copy of each chromosome
 Chromosomes are haploid = Cell containing
only one copy of each chromosome
22 autosomes
1 sex chromosome:
X (ovum) & X or Y (sperm)
 Genes are located on the
chromosomes
Gene
• Definition: They are functional units of DNA. Units of genetic material
that codes for a specific trait
• is the unit of heredity in living organisms, that directs its physical
development and behavior.

• Function: DNA sequence that is needed to encode a.a sequence of a

protein or a character

• Number: The total number of genes is more than 100,000 in mammals.

Genes vary a lot in size: Humans: average 3000 bp

largest 2.4 million bp

 Principles of Heredity
ILO-2
Explain different principles & patterns of heredity
Genetic Principles
Discovered by Mendel
Gregor Mendel (1822-1884) laid down the basic principles of
heredity.
He explored the ways physical traits could be expressed in
plant hybrids.
Gregor Mendel
The Father
of Genetics
 ◆ Mendel was able to describe a
model of inheritance
Traits Mendel Studied: Peas
Results: One Trait at a Time
 Principle of Heredity
• Genes occur in pairs because chromosomes occur in
pairs.
• During gamete production, members of each gene
pair separate so each gamete contains one member
of a pair.
• During fertilization, the full number of chromosomes
is restored, and members of a gene or allele pairs are
reunited.
 Introduction to Genetics
• Heredity
Vocabulary Word
• Transmission of genetic information from parent to
offspring
• Genetics
• The science of heredity
• Studies both genetic similarities and genetic variation
• branch of biology that deals with heredity
and variation of organisms.
• Chromosomes carry the hereditary information
(genes)
• Arrangement of nucleotides in DNA
• DNA → RNA → Proteins
• Gene – a unit of heredity;
a segment of DNA sequence encoding a single specific
protein. Located on the chromosome
• Genome – the entire set of genes in an organism
• Alleles – alternative form, of a particular gene, that is located at
a specific locus on a specific chromosome
- two genes that occupy the same position on homologous
chromosomes and that cover the same trait (like ‘flavors’ of a
trait).
Allele is used when investigation two or more forms of a
particular gene
• Locus – The location of a gene on the chromosome, a fixed
location on a strand of DNA where a gene or one of its alleles is
located.
• Homozygous – having identical genes (one from each
parent) for a particular characteristic. Both alleles of a
pair are the same TT , tt
• Heterozygous – having two different genes for a
particular characteristic. Both alleles of a pair are not
the same Tt
• Dominant – the allele of a gene that masks or
suppresses the expression of an alternate allele; the
trait appears in the heterozygous condition.
• Recessive – an allele that is masked by a dominant
allele; does not appear in the heterozygous condition,
only in homozygous.
• Trait: Any genetically determined characteristics of the
individual
• Genotype – the genetic makeup of an organisms. alleles
carried by an individual eg. RR, Rr, rr. (internal information)
• Phenotype – the physical appearance of an organism
(Genotype + environment). (external appearance)
- physical characteristic or appearance of an individual
eg. Round, wrinkled
 TT Tall

genotype

phenotype

What does Phenotypes come form

 Principles of Heredity
• When Mendel carried out his research, the processes of
mitosis and meiosis had not yet been discovered.

Mendel proposed:
1. Each trait is governed by two factors – now called
genes.
2. Genes are found in alternative forms called
alleles.
3. Some alleles are dominant and mask alleles that
are recessive.
 Mendel’s Principles
• 1. Principle of Dominance:
One allele masked another, one allele was
dominant over the other in the F1 generation.
Each trait is controlled by 2 factors, one factor (dominant
) may mask the other factor (recessive ) preventing it
from having an effect.
• 2. Principle of Segregation:
When gametes are formed, the pairs of hereditary
factors (genes) become separated, so that each sex cell
(egg/sperm) receives only one kind of gene.
Principle of Independent Assortment
• Based on these results, Mendel postulated the
3. Principle of Independent Assortment:
“Members of one gene pair segregate independently
from other gene pairs during gamete formation”
Genes get shuffled – these many combinations are one of
the advantages of sexual reproduction
 Heterozygous (Yy )
(yellow seed plant )
Meiosis I
Y Y
Prophase y
y

Principle of Segregation:
chromosome view

y Y
Metaphase

Principle of Segregation is
Anaphase due to diploid organisms
Telophase
creating haploid gametes
y y Y Y

Meiosis II

y y Y Y

Haploid gametes Fig 3.11, Brooker

Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
 Chromosome Basis of Principle of
Independent Assortment
YyRr
genotype y R R
y Y Large chromosome and
Y small c’some segregate
independently of one
r r another:

“Big Red” can co-

y Y y Y segregate with “little red”
Meiosis I
(two possible OR
arrangements
in metaphase) “Big Red” can co-
r R R r segregate with“little
blue”

y y Y Y y y Y Y

r r R R R R r r

Meiosis II

y y Y Y y y Y Y

r r R R R R r r

2 ry : 2 RY 2 Ry : 2 rY
 Punnett square
• A diagram used in the study of inheritance
• Shows the result of random fertilization in genetic
crosses.
• A useful tool to do genetic crosses
• For a monohybrid cross, you need a square divided
by four….
• Looks like a window pane…
• We use the Punnett square to predict the genotypes
and phenotypes of
the offspring.
 Activity

• Genes exist in pairs in individuals; during the

production of gametes, the pairs are separated so
that a gamete has only one of each kind. This is
known as the
a) principle of segregation.
b)principle of independent assortment.
c) mitosis.
d)unification theory.

Answer: a
Principles of Heredity

ILO-3
List & recognize the different Mendelian
inheritance patterns.
Mendelian Inheritance in Humans
• Over 4,500 human trains are known to be inherited
according to Mendelian principles.
• The human ABO blood system is an example of a simple
Mendelian inheritance.
• The A and B alleles are dominant to the O allele.

• Neither the A or B allele are dominant to one another; They are

co-dominant and both traits are expressed.

What is Co-
dominant?
 Some Mendelian Traits in Humans
Dominant

Condition Manifestations
Achondroplasia Dwarfism due to growth defects
Familial hyper- Elevated cholesterol levels and cholesterol plaque
cholesterolemia deposition; a leading cause of heart disease, with
death frequently occurring by middle age.
Recessive

Condition Manifestations
Cystic fibrosis abnormal secretions of the exocrine glands, with
involvement of the pancreas; most patients
develop obstructive lung disease.
 Question

• Mendel used the term dominant for

a) plants that were larger than others of the same variety.
b) a trait that prevented another trait from appearing.
c) a variety of pea plants that eliminated a weaker variety.
d) a trait that "skipped" a generation.

Answer: b
 Principles of Heredity

ILO-4
Draw a pedigree for a given family and label it.
 Pedigree

• Genetic traits can be traced through families by using a pedigree

chart.
• Definition
• A family tree that shows the transmission of genetic traits
within a family over several generations.
• Pedigree Analysis
• Useful in detecting autosomal dominant mutations, autosomal
recessive mutations, X linked recessive mutations
• used to trace the hereditary pattern of particular genetic
traits.
 Non-Mendelian
inheritance
Mendel was lucky!
Traits he chose in the pea plant showed up very clearly…
One allele was dominant over another, so phenotypes
were easy to recognize.
But sometimes phenotypes are not very obvious…

Mendel’s model of inheritance assumes that:

-each trait is controlled by a single gene
-each gene has only 2 alleles
-there is a clear dominant-recessive relationship between
the alleles

Most genes do not meet these criteria.

 Non-Mendelian Genetics
Mendelian Genetics (Complete Dominance):
Only 2 possible Phenotypes: either dominant or recessive

⚫But, not all inheritance is based on the rules of

Complete Dominance!!
 Introduction
⚫There are other types of inheritance that Mendel
never considered:
⚫Incomplete Inheritance
⚫Codominance
⚫Multiple Alleles
⚫Polygenic Traits
⚫Sex-linked
 Incomplete Inheritance
(Incomplete Dominance)
⚫The hybrid (heterozygous) offspring displays a THIRD
Phenotype!! Neither trait is completely dominant, as a
result, there appears to be a blending phenotype.
⚫The hetereozygote is intermediate in phenotype
Red Flower X White Flower = Pink
(RR) (WW) (RW)
 CoDominance
⚫Both traits are dominant, and show up in the
phenotype together. Co means “together”
⚫neither allele is dominant or recessive so they both
influence the phenotype. Both alleles of a gene are
expressed
⚫Hetereozygote simultaneously expresses the
phenotypes of both parents.
⚫Black Cow X White Cow = Spotted Cow
(BB) (WW)
(BW)
 Codominance
• Situation in which the phenotypes of both alleles are exhibited
in a heterozygote
• Example
• Red Flower crossed with a White Flower
• The 1st generation will display flowers with red and white spots
• Both alleles are exhibited
 Multiple Alleles
⚫When more than 2 varieties exist in a trait. Many
animals have a variety of coat colors.
 Blood type displays both co-dominance
and complete dominance

Human Blood Type

• A, B, O, or AB

• Multiple alleles
• A, B, and O
• A and B dominant Antigens on ABO Blood
O recessive Genotype Red Blood Type
- 3 alleles & 4 Cells (Phenotype)
phenotypes.
AA, AO A A
• Codominance BB, BO B B
• A and B alleles, AB A and B AB
AB blood type
OO None O
Blood Type Activity
Blood Type Problem : A woman
with type B blood has a child
with type O blood. How is this
possible if her husband has
type A blood?
 Polygenic Inheritance
Polygenic Traits
• Polygenic traits are continuous traits governed by alleles at more
than one genetic locus.
• Require more than one gene to determine trait.
• Skin color is a common example of a polygenic trait it is governed
by 6 loci and at least 12 alleles.
• Skin tone is determined by 4-6 genes—that means that there may
be six different chromosomes involved!
 Polygenic Inheritance
❖Polygenic inheritance occurs when multiple genes are involved in
controlling the phenotype of a trait. Referred to as polygenic traits
❖The phenotype is an accumulation of contributions by multiple
genes.
❖This creates an additive effect of two or more genes on a single
phenotypic character.
• Examples are skin color and height.
 Environmental
effects
• Allele expression may be affected by
environmental conditions
• Examples:
• Coat color in arctic foxes
• Coat color in Siamese cats
• ch allele affected by temp >33 C →
tyrosinase enzyme inactivates +
reduces melanin pigment
production
-

How about “intelligence” in

humans?
 Linkage
• Linkage is the tendency for a group of genes, on the
same chromosome, to be inherited together via
crossing over
• Therefore, groups of genes on the same
chromosome are linked genes.
– Independent assortment does not apply if two loci are
linked close together on the same pair of homologous
chromosomes.
• Normally, they are passed on together.

• Recombination of unlinked genes = Independent

Assortment of chromosomes

• Recombination of Linked genes = Crossing Over

Activity
• Traits that have a range of phenotypic expressions
and show a continuum of variation are termed
a) co-dominant.
b) polygenic.
c) polymorphic.
d) sex-linked.

Answer: b
 Sex-linked Inheritance
⚫Genes for some traits are found on the sex
chromosomes (X)
⚫Most of these traits are recessive the normal gene is
dominant
• Heterozygous Females (XXc) are carriers. They do not
show the trait, but carry a gene for the trait.
• Homozygous Females (XcXc) have the trait
• Males with the gene (XcY) have the trait.—They do not
have another X to counterbalance the affected gene
 Case Report
Down Syndrome, Trisomy 21

• Autosomal Aneuploidy
• Caused by an extra copy of chromosome #21
• There are 3 copies of chromosome #21 in their somatic cells
• Growth failure and mental retardation
• Big toes widely spaced
• Mean life expectancy is about 17 years and only 8 % survive past age 40
 Summary of Heredity
• Chromosomes carry hereditary info (genes)
• Chromosomes (and genes) occur in pairs
• Mendel’s Principles:
• Dominance: one allele masks another
• Segregation: genes become separated in gamete formation
• Independent Assortment: Members of one gene pair segregate
independently from other gene pairs during gamete formation
But, not all inheritance is based on the rules of Complete
Dominance
• Non Mandelian genetics:
✓Incomplete Inheritance
✓Codominance
✓Multiple Alleles
✓Polygenic Traits
✓Sex-linked
 References
• Vasudevan's Textbook of Biochemistry For Medical
Students, 6th Edition.
• BRS Biochemistry, Molecular Biology, and Genetics, 5th
Edition.
• BRS Genetics by Ronald W. Dudek; BRS (Dudek),
Copyright © 2010 Lippincott Williams & Wilkins, a
Wolters Kluwer business