GENETICS

The section needing many homework activities to master

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 Genetics- the study of heredity and the
variation of inherited characteristics.
 Inheritance/heredity- The passing on of
characteristics (traits) from parents to
offspring.
 Variation- differences.
Details
not
required
 He is known as the father of genetics.
Modern genetics had its beginnings in an
abbey garden, where an Austrian monk
named Gregor Mendel documented a
particular mechanism of inheritance.
 His approach to science had been
influenced at the University of Vienna by
one of his professors: the physicist
Doppler.
 He discovered the basic
principles of heredity by
breeding garden peas in
carefully planned experiments.
 To hybridise 2 varieties of pea
plants, Mendel used an artist‟s
brush.
 He transferred pollen from a
true breeding white flower to
the carpel of a true breeding
purple flower.
 Mendel‟s theories of inheritance, first
discovered in garden peas, are equally valid
for figs, flies, fish, birds and human beings.
 Mendel‟s impact endures, not only on
genetics, but on all of science, as a case
study of the power of hypothesis/deductive
thinking.
 In order to study inheritance, Mendel chose to use
peas, probably as they are available in many varieties.
 They grow fast.
 They have a short intergeneration time.
 They produce a lot of offspring.
 The traits are easy to observe.
 The use of plants also allowed strict control over
the mating.
 He chose to study only characters that varied in an
„either-or‟ rather than a „more-or-less‟ manner.
UNIT QUESTIONS pg 125 No 2-5
Unreplicated Replicated
 Genes – Portion of DNA (found on chromosome) that has the
code for a particular protein or trait
 Alleles - different forms of the same gene
 Phenotype:Visible characteristics (physical).
 Genotype: Genetic make-up.
 Homozygous: Two of the same allele. eg. TT
or tt
 Heterozygous: Two different alleles. eg. Tt
 Dominant allele- the allele that shows in the phenotype, of a
heterozygous individual.
 Recessive allele- The allele that is not seen in a heterozygous
individual. It is only expressed when it is paired with an allele of
the same type.
 Monohybrid cross- a breeding
experiment comparing the offspring of
individuals that differ in ONE trait.
 Dihybrid cross- a breeding experiment
comparing the offspring of individuals
that differ in TWO traits.
Homework
Activity 1 pg 107
Number 1-4
 The pure plants for each strain were
called the Parent or P1 generation
 The offspring of the P1 generation
were called the first filial, or F1
generation
 The offspring of the F1 generation,
the second filial, were called the F2
generation. These would be the
“grandchildren” of the P1 generation
 Mendel concluded that something within the pea plants
controlled characteristics, which he called factors (now
known as alleles).
 Since each characteristic had two forms, he concluded
there must be a pair of factors controlling each trait
 Whenever Mendel crossed strains, one of the P1
strains failed to appear in the F1 plants.
 However, in every case, that trait reappeared in a
ratio of about 3:1 in the F2 generation
 When two homozygous organisms with contrasting
characteristics are crossed, all the individuals of the F1
generation will display the dominant trait
 An individual that is heterozygous for a particular
characteristic will have the dominant trait as the
phenotype. The dominant trait (uppercase-
Capital letter).
eg. T = tall
G = green
 The trait that disappears in the offspring is the
recessive trait (lowercase).
eg. t = short
g = yellow
*The letter used is not important but some
should be avoided. E.g. o, w,u,p,k,s,z,x,c,v,
 An organism possesses two 'factors' which separate
or segregate so that each gamete contains only one
of these 'factors'
 Each reproductive cell (gamete) receives only one factor from
each cell
 When the gametes combine during fertilization, the
organism will again have two factors controlling each trait
 The various 'factors'
controlling the different
characteristics are separate
entities, not influencing each
other in any way, and sorting
themselves out independently
during gamete formation.
 A cross between two
individuals that only
involves one trait is
called a monohybrid
cross
 We use what is called
a Punnett square to
predict the results
 (VERY IMPORTANT!!!!!)
P1 Phenotype: _________X_________
Genotype: _________X_________
Meiosis
Gametes: ___; ____ X___; ____
Fertilisation:
GAMETES

F1 Genotype: ____:______:______
Phenotype: ____:______:______
 Example
 We will use T for tall (the dominant allele) and t
for short (the recessive allele).
 If the mother is short and the father is
heterozygous, use a genetic cross to show the
possible genotypes and phenotypes of the
offspring
Videos monohybrid cross
 Format of a genetic cross diagram made logical.
 https://youtu.be/oYknZYaziw0

 Example of monohybrid cross Heterozygous green

ringneck with blue recessive partner.
 https://youtu.be/_cKs_qA61bg
Home work
Activity 2 pg 112-113
3 GENERAL MONOHYBRID
CROSSES
Example 1

 This cross shows a cross

between a plant
homozygous dominant for
purple flowers with a plant
homozygous recessive for
white flowers
 GRATIO = All Pp
 PRATIO = All purple
Example 2

 This cross shows a

cross between a
guinea pig
homozygous
dominant for black
coat with one
heterozygous
 GRATIO = 2BB : 2Bb
=1BB : 1Bb
 PRATIO = Black coat
Example 3

 Here both rabbits show

the dominant black coat,
even though they are
heterozygous for the
trait. Notice how the
offspring shows the
recessive trait
 GRATIO = 1BB : 2Bb : 1bb
 PRATIO = 3Black : 1Brown
Video link
 Predicting outcomes of monohybrid crosses. All cross
combinations of Homozygous and/or heterozygous.
 https://youtu.be/6TRNEGAcWow
Homework
ACTIVITY 1.5 Pgs 144-145
1. Complete dominance
 One allele is dominant and the other is recessive such
that the effect of the recessive allele is masked by the
dominant allele in the heterozygous condition
2. Incomplete Dominance
 neither one of the two
alleles of a gene is
dominant over the other,
resulting in an intermediate
(new) phenotype in the
heterozygous condition

(note: 2 different letters are

used and both letters are
capital)
Homework
Activtiy 3 pg 116
3. Co-dominance
 Both alleles of a gene are equally dominant, thus
both alleles for a gene are expressed in the
phenotype of a heterozygous offspring

 The coat of this cow

consists of both red
and white hairs. Both
the red and white
phenotypes show
Homework:
Activity 4 pg 133
Co-dominance cont.
 A classical example of co-dominance is the A and B
alleles of the ABO blood group in humans.
 Multiple alleles – more than 2 for a gene (you still
can only have 2 per individual)
 In the ABO system there are four phenotypic blood
groups, namely A, B, AB and O. The alleles for
groups A and B are co-dominant.
 If a person inherits alleles for groups A and B, his or
her red blood corpuscles will carry both antigen A
and antigen B.
 However, the alleles for groups A and B are both
completely dominant to the allele for group O.
 Phenotype Genotype
(blood group)
A IAIA (homozygous)
IAi (heterozygous)
B IB IB (homozygous)
IBi (heterozygous)
AB IA IB

O ii
P1
Phenotype

Genotype:
IA IB IA IB

Gametes IA Classwork
IB IA IB
Write out a genetic cross for
Fertilisation this example.

F1 Genotype
IA IA IA IB IA IB IB IB

Phenotype A AB AB B
Question 2.3 Pg 146 &
Act5 pg 123-124
44 autosomes and 2 sex
chromosomes (gonosomes)

Normal Male Normal Female

Classwork/Homework

Do a genetic cross to show the probability of

having a boy or girl child
 In addition to their role in determining sex, the sex
chromosomes have genes for many characteristics.
 Genes located on a sex chromosome are called
sex linked genes
 The Y-chromosome is too small to carry all information
 In humans the term usually refers to X-linked
characters: genes located only on X chromosomes
 Fathers can pass X-linked alleles to their daughters, but
not sons
 Mothers can pass sex-linked alleles to both sons and
daughters
 If a sex linked trait is due to a recessive allele:
 A female will express the phenotype only if she
is homozygous recessive.
 If a male receives the recessive allele from his
mother he will express the phenotype.
 Far more males have disorders that are inherited
as sex linked recessives than females.
 Examples: Colour blindness
Haemophilia
 X chromosome has a locus for colour vision with two
alleles:
 XN = Normal colour vision
 Xn = Red-green colour blindness

 Y chromosome does not have a colour vision locus.

 If a male receives the Xn allele he will have impaired

colour vision

 Whereas a female with XNXn will not.

P1 Phenotype: Unaffected female (carrier) X Unaffected male
Genotype: XNXn X XNY
Meiosis
Gametes: XN Xn X XN Y

Fertilisation:

F1 Genotype: XN XN : XN Xn : XN Y : Xn Y
Phenotype: 2 unaffected females : 1 normal male : 1 colour blind male

25% chance of producing a colour blind child each time

Homework
Activity 4 pg 121-122 up to 3.2
 Pedigree charts are a way of graphically
illustrating inheritance patterns over a
number of generations

 They are used to study the inheritance

of genetic disorders
Showing genetic pedigree

 Unaffected female:
 Affected female:
 Unaffected male:
 Affected male:

I
1 2

II
1 2 3 4 5

III
1 2 3 4 5
Videos on pedigree diagrams
 Pedigree diagrams: understanding the structure.
 https://youtu.be/Cah-fhL_2e0

 Steps when analysing a pedigree diagram for an autosomal

recessive disorder.
 https://youtu.be/lUitoeR8KAg

 Steps when analysis of a pedigree diagram for a sex linked

recessive disorder
 https://youtu.be/LqOc8NZpDwY
Activity 7 pgs 128-130
Question 2.1 Pgs 145-146
 Change in the nucleic acid sequence of the
genotype of an organism.
 Errors in replication. Sunlight, radiation and smoking.
1. Gene mutation

 Change in the nucleotide sequence of genes

 e.g.s see pg 155

2. Chromosomal aberration
 A change in the structure of chromosomes
 An entire chromosome or large portions are mission,
doubled or turned around
 see pg 157
 1. Harmless- (neutral- no effect on survival)

 2. Harmful- (negative impact on survival can even be

lethal)

 3. Useful- (assist in survival)

 Mutations result in increased variation.

 Mutations in mitochondrial DNA is used to trace

maternal ancestory.
Gene Mutations:
 Haemophilia – absence of blood-clotting factors
 Colour-blindness – absence of the proteins that
comprise either the red or green
cones/photoreceptors in the eye

Chromosomal mutation/abberation:
 Down syndrome– due to an extra copy of
chromosome 21 as a result of non-disjunction during
meiosis
 Biotechnology is the manipulation of biological

processes to satisfy human needs. .

 Genetic engineering/modification- Changing the

genetic make-up of organisms.

(includes paternity testing and DNA profiling- forensics)

Example Gene donor Gene receiver Benefit
Golden rice Carotene gene Rice People lacking vitamin A in their
from carrots traditional diet can make the
vitamin if they eat genetically
modified „golden‟ rice.
Salmon that Salmon Fish grow faster
grow faster
 WHAT ARE THEY?

Unspecialized cells that can develop into any type of

specialized cells

USES

Treatment of brain disorders like parkinsons disease

Skin regeneration

Organ replacement
 SOURCE
 Umbilical cord
 Embryos
 Creation of the same type of organism that
has an identical genetic makeup to the parent
Views for and against biotechnology/genetic
engineering
 You tell me. (at least 3 each)
Mitochondrial DNA and tracing genetic
links
Mitochondrial DNA (mtDNA) is important for an understanding of evolution.
 Mitochondrial DNA (mtDNA) is found in mitochondria and contains genes which
are needed to make the proteins involved in cellular respiration.
 As there is no crossing over involving mtDNA, the only changes that occur are due
to mutations.
 mtDNA mutates at a regular rate so scientists are able to analyse these mutations
to work out a timeline of genetic ancestry.
 Only the mother‟s mtDNA is passed on to her offspring (male and female). This is
because the father‟s mtDNA is found in the cytoplasm of the sperm cell which is
discarded, together with the tail, at the time of fertilisation.
 So, by analysing the mtDNA, the scientists can compare the mutations of different
people to see how closely related they are. Furthermore, the more mutations that
are found, the older that race is believed to be.
 This research has found that our common female ancestor most likely lived about
150 000 years ago in East Africa. She has been named “Mitochondrial Eve”. This
evidence supports the theory that the human race evolved in Africa and then
migrated to other parts of the world. This will be covered in the chapter on Human
Evolution.
 A cross where 2 traits/characteristics are compared at
the same time.

 Practice example:

If R-round seed, r- wrinkled seed,Y-yellow seed and y is

green seed... Complete the table below
GENOTYPE PHENOTYPE

RRyy

rrYy

Wrinkled and green

For this cross both parents will be
heterozygous for round yellow (RrYy) peas
First calculate the gametes using a normal punnet square

Y y
R RY Ry
r rY ry

Y y
R RY Ry
r rY ry

 Place all four alleles for one parent along the top,
and those for the other parent along the side
 Combine the parent
alleles to create the
possible combinations for
the offspring.
 Remember!! Each
offspring must have 4
letters (two alleles for
each trait)
 NB! The same letters will
always be together with
the exception of the
gametes.
 Genotype: 1 RRYY: 2RRYy:1RRyy: 2RrYY:4RrYy: 2Rryy:
1rrYY: 2rrYy:1rryy

 Phenotype: 9Round and Yellow:3Round and green: 3

shrivelled and Yellow: 1 shrivelled and green
 Class activity
In hamsters:
 D- Dark fur
 d- Light fur
 R- Rough coat
 r- Smooth coat
Complete a dihybrid cross where a male hamster heterozygous
for both characteristics is crossed with a hamster with light fur
and heterozygous for coat texture.
 Homework
Question 3.1 Pg 147 &
Activity 6 Pg 118-119