21/01/2020

MEIOSIS

1 2

Genetics
•Is the scientific study of heredity
(how traits are passed from
parent to offspring)

3 4

HISTORY GENETIC CONCEPTS

• Genetics is the study of genes.
• Inheritance is how traits, or characteristics, are
passed on from generation to generation.
• Chromosomes are made up of genes, which are
made up of DNA
• Genetic material (genes, chromosomes, DNA) is
found inside the nucleus of a cell.
• Heredity describes how some traits are passed from
parents to their children.
• The traits are expressed by genes, which are small
sections of DNA that are coded for specific traits.
• Genes are found on chromosomes.
• Humans have two sets of 23 chromosomes—one set
from each parent.

5 6

1
 21/01/2020

MENDELIAN INHERITANCE
MENDELIAN INHERITANCE
1.The inherited traits are determined by
genes that are passed from parents to
children.
2.A child inherits two sets of genes—one from
each parent.
3. A trait may not be observable, but its gene
can be passed to the next generation.
Each person has 2 copies of every gene—one
copy from mom and a second copy from dad.
These copies may come in different variations,
known as alleles, that express different traits.
For example, 2 alleles in the gene for freckles
are inherited from mom and dad:
– Allele from mom = has freckles (F)
– Allele from dad = no freckles (f)
– Child has the inherited gene pair of alleles, Ff (F allele from mom
and f allele from dad).

7 8

GREGOR MENDEL GREGOR MENDEL

•The Father of • Austrian monk.
Genetics • Experimented with “pea plants”.
•He experimented • Used pea plants because:
• They were available
with pea plants and • They reproduced quickly
noticed that not all • They showed obvious differences in the traits
peas are the same. Understood that there was something that carried
traits from one generation to the next- “FACTOR”.

9 10

Mendel's Plant Breeding Experiments

Gregor Mendel was one of the first to apply

an experimental approach to the question
of inheritance.

For seven years, Mendel bred pea plants

and recorded inheritance patterns in the
offspring.

Particulate Hypothesis of Inheritance

Parents pass on to their offspring separate
and distinct factors (today called genes)
In the mid-1800s, the rules underlying that are responsible for inherited traits.
patterns of inheritance were uncovered in
a series of experiments performed by an
Austrian monk named Gregor Mendel.

11 12

2
 21/01/2020

He discovered that crossing peas depended

on the genes of the plant rather than only the
outward appearance of the plant.

WHAT DID MENDEL

CONCLUDE?

13 14

WHAT DID MENDEL CONCLUDE?

•Inheritance is determined by factors
passed on from one generation to
another. WHAT ARE THESE
•Mendel knew nothing about FACTORS?
chromosomes, genes, or DNA. Why?
•These terms hadn’t yet been
defined.

15 16

WHAT ARE THESE The ‘factors” that mendel

FACTORS? mentioned were the genes.
•(Gene: a specific region of a
•The ‘factors” that Mendel chromosome which is capable of
determining the development of
mentioned were the genes. a specific trait; composed of
DNA)

17 18

3
 21/01/2020

•Each gene has different

forms called alleles. •Mendel’s second principle
(Allele: a pair of genes located stated that some alleles are
at the same place on a dominant and some are
homologous chromosome.) recessive.

19 20

TRAITS : CHARACTERISTICS
•Mendel published his paper on Heredity in
1866. •Determined by the genes on the
•The scientific community saw little if any chromosomes.
importance in his work.
•Mendel died in 1884 with no recognition
for his contributions to genetics.

21 22

Chromosomes come in homologous

pairs, thus genes come in pairs.
Homologous pairs – matching genes –
one from female parent and one from
male parent
Example: Humans have 46 chromosomes
or 23 pairs.
One set from dad – 23 in sperm
One set from mom – 23 in egg

23 24

4
 21/01/2020

What genetic principles account for the transmission of such traits Law of Dominance
from parents to offspring?
In the monohybrid cross (mating of two organisms that differ in only one
The Blending Hypothesis of Inheritance character), one version disappeared.
In the early 1800’s the blending hypothesis was proposed. Genetic
material contributed by the two parents mixes in a manner analogous to the
way blue and yellow paints blend to make green.
What would happen if this was the case?

What happens when the F1’s are crossed?

25 26

Alleles: alternative versions of a gene.

The F1 crossed The gene for a particular inherited character resides at a specific locus
produced the F2 (position) on homologous chromosome.
generation and the
lost trait appeared
with predictable
ratios.

This led to the

formulation of the
current model of
inheritance. For each character, an organism
inherits two alleles, one from each
parent

27 28

How do alleles differ?

Dominant and Recessive Genes
Gene that prevents the other gene from “showing”
– dominant
Dominant allele
Recessive Gene that does NOT “show” even though it is
present – recessive
allele

Symbol – Dominant gene – upper case letter – T

Recessive gene – lower case letter – t
Recessive allele

Recessive allele

Dominant - a term applied to the trait (allele) that is expressed regardless of

the second allele.
Recessive - a term applied to a trait that is only expressed when the second
allele is the same (e.g. short plants are homozygous for the recessive allele).

29 30

5
 21/01/2020

Genotype and Phenotype

(Always use the same letter for the same alleles
No B = Black, w = white) Combination of genes an organism has (actual gene
makeup) – genotype
Ex: TT, Tt, tt
Physical appearance resulting from gene make-up –
phenotype
Ex: brown eye, curly hair

31 32

Punnett Square Punnett Square

• Gametes are placed above and to the left of the
• Developed by square
Reginald Punnett. • Offspring are placed in the square.
• A diagram used to • Capital letters represent dominant alleles.
show the probability • Lower case letters represent recessive alleles.
or chances of a
certain trait being
passed from one
generation to
another.

33 34

Probability and Punnett Squares

Genotype versus phenotype.
Punnett square: diagram showing the probabilities of the
possible outcomes of a genetic cross

How does a
genotype ratio differ
from the phenotype
ratio?

35 36

6
 21/01/2020

Testcross
Punnett squares - probability diagram illustrating the possible
offspring of a mating. A testcross is designed to reveal whether an organism that displays the
dominant phenotype is homozygous or heterozygous.
Ss X Ss

gametes

37 38

Variation in Patterns of Inheritance

HOW DOES IT WORK?

Intermediate Inheritance (blending): inheritance in which
heterozygotes have a phenotype intermediate between the phenotypes of
the two homozygotes

39 40

Example:
EXERCISES 1. A green pea plant (Gg) is crossed with a yellow pea plant (gg).
Punnett square

•Complete the following crosses: g

G
Gg
g
gg

draw a Punnett square, list the g Gg gg

ratio and describe the offspring. Be Genotype:

sure to remember that the capital 50% heterozygous, 50% homozygous
recessive; 1:1
letter is dominant. Penotype:
50% green, 50% yellow; 1:1

41 42

7
 21/01/2020

2. A tall plant (TT) is crossed with a tall plant (tt).
3. A tall plant (Tt) is crossed with a short plant (tt).
4. A red flower (Rr) is crossed with a white flower (rr).
5. A white flower (rr) is crossed with a white flower
(rr).
6. A black chicken (BB) is crossed with a black chicken
(BB).
Pedigree Analysis
- Diagrams showing the ancestral relationships and transmission
of genetic traits over several generations in a family.
- Is the technique of looking through a family tree (of humans or
other organisms) for the occurrence of a particular characteristic
in one family over a number of generations.
• Can be used to determine the likely mode of inheritance:
– Autosomal dominant
– Autosomal recessive
– X-linked dominant
– X-linked recessive

43 44

Relevant Vocabulary Relevant Vocabulary

1. Proband - The individual in the pedigree that led to the
contruction of the pedigree.
2. Law of Segregation (1st Mendelian Law) - For every trait
governed by a pair of alleles, these alleles segregate or separate
during gamete formation in meiosis.
3. Law of Independent Assortment (2nd Mendelian Law) - A
pair of alleles for one trait will segregate or separate
independently of another pair of alleles for another trait during
meiosis.
4. Autosomal trait - A trait whose alleles that control it are found
in the autosomes (body chromosomes/ non-sex chromosomes)
5. Phenocopy - A trait that is expressed due to specific
environmental conditions (ex. having hair that is dyed of a
different color) and is not due to the genotype.
6. Identical Twins - Also known as monozygotic twins, which are
derived from a single fertilization event. After the first cleavage or
cell division of the zygote, the cells separate and become
independent blastocysts implanted in the mother's uterus.
7. Fraternal Twins - Twins that are derived from separate
fertilization events, (two eggs fertilized by two sperms) within the
fallopian tube, resulting intwo separate zygotes; also known as
dizygotic twins.

45 46

Symbols used in drawing pedigrees

AUTOSOMAL DOMINANT PATTERN
• AN IDEALISED PATTERN OF INHERITANCE OF AN AUTOSOMAL DOMINANT TRAIT INCLUDES
THE FOLLOWING FEATURES:
• BOTH MALES AND FEMALES CAN BE AFFECTED
• ALL AFFECTED INDIVIDUALS HAVE AT LEAST ONE AFFECTED PARENT
• TRANSMISSION CAN BE FROM FATHERS TO DAUGHTERS AND SONS, OR FROM MOTHERS TO
DAUGHTERS AND SONS
• ONCE THE TRAIT DISAPPEARS FROM A BRANCH OF THE PEDIGREE, IT DOES NOT REAPPEAR
• IN A LARGE SAMPLE, APPROXIMATELY EQUAL NUMBERS OF EACH SEX WILL BE AFFECTED.

Examples include:
⚫ Huntington disease
⚫ Achondroplasia (a form of
dwarfism)
⚫ Familial form of Alzheimer
disease
⚫ Defective enamel of the
teeth
⚫ Neurofibromatosis (the
‘Elephant man’ disease)

47 48

8
 21/01/2020

AUTOSOMAL RECESSIVE PATTERN X LINKED DOMINANT PATTERN

• AN IDEALISED PATTERN OF INHERITANCE OF AN AUTOSOMAL RECESSIVE TRAIT
INCLUDES THE FOLLOWING FEATURES: • AN IDEALISED PATTERN OF INHERITANCE OF AN X-LINKED DOMINANT TRAIT INCLUDES THE
FOLLOWING FEATURES:
• BOTH MALES AND FEMALES CAN BE AFFECTED
• TWO UNAFFECTED PARENTS CAN HAVE AN AFFECTED CHILD
• A MALE WITH THE TRAIT PASSES IT ON TO ALL HIS DAUGHTERS AND NONE OF HIS SONS

• ALL THE CHILDREN OF TWO PERSONS WITH THE CONDITION MUST ALSO SHOW THE CONDITION
• A FEMALE WITH THE TRAIT MAY PASS IT ON TO BOTH HER DAUGHTERS AND HER SONS

• THE TRAIT MAY DISAPPEAR FROM A BRANCH OF THE PEDIGREE, BUT REAPPEAR IN LATER GENERATIONS • EVERY AFFECTED PERSON HAS AT LEAST ONE PARENT WITH THE TRAIT

• OVER A LARGE NUMBER OF PEDIGREES, THERE ARE APPROXIMATELY EQUAL NUMBERS OF AFFECTED • IF THE TRAIT DISAPPEARS FROM A BRANCH OF THE PEDIGREE, IT DOES NOT REAPPEAR
FEMALES AND MALES. • OVER A LARGE NUMBER OF PEDIGREES, THERE ARE MORE AFFECTED FEMALES THAN MALES
Examples include: Examples include:
⚫ Albinism ⚫ Vitamin D resistant rickets
⚫ Cystic fibrosis ⚫ Incontinentia pigmenti, a
⚫ Thalassaemia rare disorder that results in
⚫ Tay-Sachs disease the death of affected males
⚫ Phenylketonuria before birth
⚫ Red hair colour

49 50

X LINKED RECESSIVE PATTERN

• AN IDEALISED PATTERN OF INHERITANCE OF AN X-LINKED RECESSIVE TRAIT INCLUDES THE
FOLLOWING FEATURES:
• ALL THE SONS OF A FEMALE WITH THE TRAIT ARE AFFECTED
• ALL THE DAUGHTERS OF A MALE WITH THE TRAIT WILL BE CARRIERS OF THE TRAIT AND WILL NOT SHOW
THE TRAIT; THE TRAIT CAN APPEAR IN THEIR SONS
• NONE OF THE SONS OF A MALE WITH THE TRAIT AND AN UNAFFECTED FEMALE WILL SHOW THE TRAIT,
UNLESS THE MOTHER IS A CARRIER
• ALL CHILDREN OF TWO INDIVIDUALS WITH THE TRAIT WILL ALSO SHOW THE TRAIT
• IN A LARGE SAMPLE, MORE MALES THAN FEMALES SHOW THE TRAIT.
Examples include:
⚫ Ichthyosis, an inherited skin disorder
⚫ One form of red–green colour-blindness
⚫ One form of severe combined
immunodeficiency disease
⚫ Haemophilia
⚫ Fragile X syndrome
⚫ Duchenne muscular dystrophy

51