BASICS OF INHERITANCE

Assoc. Prof. Dr. Atif Amin Baig ,

Faculty of Medical Sciences,
University Sultan Zainal Abidin.
atifamin@unisza.edu.my

Year I
Learning Outcomes
1. At the end of this lecture, you will be able to know and understand:
2. What is Genetics and need to study it.
3. Advancement in genetics and genetics research
4. Basic Genetics and definitions
5. What is inheritance
6. Types of inheritance
7. Mendelian inheritance and its laws
8. Non-mendelian inheritance and its types
9. Special Inheritance
 What is Genetics?
 Properties and phenomena of an organism.
Importance of genetics
Genetics

G×E interaction

Environment Health
 ISI Web of Science topic search for "genetic AND disease"

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 Branches of genetics
 Medical Genetics.
 Plant genetics.
 Population genetics.
 Cytogenetics.
 Molecular genetics.
 Oncogenetics.
 Nutrogenetics.
Locus – location of a gene/marker on the chromosome.

Allele – one variant form of a gene/marker at a particularlocus

 Genome Size

Species Size in bps

Amoeba dubia 670,000,000,000

Homo sapiens 3,400,000,000

Drosophila melanogaster 180,000,000

Mycoplasma genitalium 580,000

Human immunodeficiency virus 9,750

 Genome and genes
 Gene: basic unit of genetic information. Genes
determine the inherited characters.

 Genome: the collection of genetic information.

 Chromosomes :storage units of genes.

 DNA : is a nucleic acid that contains the genetic

instructions specifying the biological development of
all cellular forms of life
 The phenotype of an organism denotes its external appearance (size, color, intelligence, etc.).

Classical genetics showed that genes control the transmission of phenotype from one generation to the next.

Biochemistry showed that within one generation, proteins had a determining effect on phenotype.
 Biotechnology

Improved phenotype in high yield

Genetic
Engineering
Modified phenotype can be
helpful for mankind in different forms
Phenotype can be achieved by
changing the genetic code
 Mendelian Inheritance
Australian monk who formulated
fundamental law of heredity in early 1860s.

Gregor Mendel
(1822-1884)
Theories of inheritances
Reshuffling of genes from generation to generations

He studied mathematics at University of Vienna

 One trait inheritance
 Mendel performed cross-breeding experiments between true
breeding plants (homozyous).

 Choose varieties that differed in only one trait (monohybrid).

 Performed crosses:
 Parental generation = P
 First generation offspring = F1 (1st filial)
 Second generation offspring = F2 (2nd filial)
 Law of segregation
 Each individual has two factors
for each trait.
 The factors separate when
gametes form.

 A gamete contains only one of

two factors.

 Fertilization = new individual

with 2 factors for each trait.
Genotype Vs Phenotype
Genotype
Refers to the alleles an individual receives

Genotypic frequency
Frequency of specific allelic recombination
RR : Rr : rr
1 :2 : 1

Phenotype
Refers to the physical appearance of the individual

Phenotypic frequency
Round : Oval
3 : 1
Modern genetics and Law of segregation

 E.g. if you have one allele for brown eyes (B)

and one for blue eyes (b), somatic cells have
Bb and each gamete will carry one of B or b
chosen randomly
Sperm

B b
B BB Bb
Eggs
b Bb bb
 Mendel’s law of dominance
 If your two alleles are different (heterozygous, e.g. Bb), the trait associated
with only one of these will be visible (dominant) while the other will be
hidden (recessive). E.g. B is dominant, b is recessive.

Sperm

B b Genotypic frequency: BB : Bb : bb
1 : 2 :1
B BB Bb
Eggs Phenotypic frequency:
b Bb bb Brown : Blue
3 : 1

Dominant allele: The allele which is always visible phenotypically or through its action
Recessive allele: The allele which is only visible phenotypically if no dominant allele is present.
Mendel’s law of independent assortment

 Knowledge of which allele has been inherited at one locus

gives no information on the allele has been inherited at the
other locus

S/s Y/y

SY Sy sY sy

25% 25% 25% 25%

 Mendel’s law of independent assortment

Gametophytes S Y
monohybrid cross
(gamete s y
producing cells)
dihybrid cross (2n)
Segregation

S Y

s y
Gametes
A b
Recombinants
a B

Alleles for different traits are distributed to sex cells (& offspring) independently of one another.
 Dihybrid cross
 Traits: Seed shape & Seed color
 Alleles: R round
r wrinkled
Y yellow
y green
RrYy x RrYy


RY Ry rY ry RY Ry rY ry

All possible gamete combinations

 RY Ry rY ry

RY

Ry

rY

ry
 Dihybrid Cross
RY Ry rY ry

RY Round/Yellow: 9
RRYY RRYy RrYY RrYy

Ry Round/green: 3
RRYy RRyy RrYy Rryy

wrinkled/Yellow: 3
rY RrYY RrYy rrYY rrYy
wrinkled/green: 1
ry RrYy Rryy rrYy rryy 9:3:3:1 phenotypic
ratio
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LAW PARENT CROSS OFFSPRING

DOMINANCE TT x tt 100% Tt
tall x short tall

Tt x Tt 75% tall
SEGREGATION
tall x tall 25% short

INDEPENDENT RrGg x RrGg 9/16 round seeds & green pods

3/16 round seeds & yellow pods
ASSORTMENT round & green x 3/16 wrinkled seeds & green pods
round & green 1/16 wrinkled seeds & yellow pods
 Non-Mendalian Inheritance
 Many genes do not follow a Mendalian inheritance
pattern
 e.g.,
Closely linked genes do not follow Mendel’s law of
independent assortment

 It includes
 Maternal effect
 Epigenetic inheritance
 Extranuclear inheritance
 MATERNAL EFFECT
 Oogenesis in female animals
 Oocyte is formed
 Will ultimately become haploid
 Nourished by surrounding diploid maternal nurse cells
 MATERNAL EFFECT
 Oogenesis in female animals
 Oocyte is formed
 Will ultimately become haploid
 Nourished by surrounding diploid maternal nurse cells
 Receives
gene products from nurse cells
 Genotype of nurse cells determines gene products in oocyte
 MATERNAL EFFECT
 Maternal effect genes
 Encode RNA and proteins that play important roles in
early steps of embryogenesis
 e.g., Cell division, cleavage pattern, body axis orientation
 Defective alleles tend to have dramatic phenotypic
effects
 EPIGENETIC INHERITANCE
 Epigenetic inheritance
 Modificationoccurs to a nuclear gene or chromosome
 Occur during spermatogenesis, oogenesis, and early
stages of embryogenesis
 Gene expression is altered
 May be fixed during an individual’s lifetime
 Expressionis not permanently changed over multiple
generations
 DNA sequence is not altered
 EPIGENETIC INHERITANCE
 Two types of epigenetic inheritance will be discussed

 Dosage compensation
 Offsetsdifferences in the number of sex chromosomes
 One sex chromosome is altered
 Genes or DNA regions?

 Genomic imprinting
 Occurs during gamete formation
 Involves a single gene or chromosome
 Governs whether offspring express maternally- or
paternally-derived gene
 EXTRANUCLEAR INHERITANCE

 Most genes are found in the cell’s nucleus

 Some genes are found outside of the nucleus
 Some organelles possess genetic material
 Resulting phenotypes display non-Mendelian
inheritance patterns
 “Extranuclearinheritance”
 “Cytoplasmic inheritance”
 Incomplete Dominance

 F1 hybrids have an appearance somewhat in

between the phenotypes of the two parental
varieties.
 Example: snapdragons (flower)

 red (RR) x white (rr) r r

 RR = red flower R
 rr = white flower
R

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 Incomplete Dominance

r r

Rr Rr produces the
R
F1 generation
R Rr Rr All Rr = pink
(heterozygous pink)

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 Codominance

 Two alleles are expressed (multiple alleles)

in heterozygous individuals.
 Example: blood type

 1. type A = IAIA or IAi

 2. type B = IBIB or IBi
 3. type AB = IAIB
 4. type O = ii

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 Sex-linked Traits

Example: Eye color in fruit flies

Sex Chromosomes

fruit fly
eye color

XX chromosome - female Xy chromosome - male

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 Sex-linked Traits

 Example: Eye color in fruit flies

 (red-eyed male) x (white-eyed female)
XRY x XrXr
 Remember: the Y chromosome in males does not
carry traits.
 RR = red eyed
Xr Xr
 Rr = red eyed
 rr = white eyed
 XY = male XR
 XX = female
Y
 Sex-linked Traits

Xr Xr
50% red eyed
XR XR Xr XR Xr
female
50% white eyed
Y Xr Y Xr Y male
Leber's hereditary optic neuropathy (LHON)

 This type of inheritance

applies to genes in
mitochondrial DNA.
 Mitochondrial disorders
can appear in every
generation of a family and
can affect both males and
females, but fathers do not
pass mitochondrial traits to
their children.
 E.g. Leber's hereditary
optic neuropathy (LHON)
 Some common genetic disorders
 Cystic fibrosis – disease affecting the mucus lining of the
lungs, leading to breathing problems and other difficulties.
Some common genetic disorders

Huntington disease
 Huntington's chorea is an
inherited disorder characterized
by abnormal body movements
called chorea, and loss of
memory. There also is evidence
that doctors as far back as the
Middle Ages knew of this
devastating disease. The
incidence is 5 to 8 per 100,000.
It takes its name from the New
York physician George
Huntington who first described it
precisely in 1872.
 Some common genetic disorders
 Hemophilia
 illness that impair the body's ability to control bleeding.
Some common genetic disorders
 Fragile X syndrome - is a
genetic condition that causes a
range of developmental
problems including learning
disabilities and mental
retardation. Usually males are
more severely affected by this
disorder than females. In
addition to learning difficulties,
affected males tend to be
restless, fidgety, and inattentive.
Affected males also have
characteristic physical features
that become more apparent with
age.