Sei sulla pagina 1di 100

GENETICS

IMPORTANT TERMS

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.

CHROMOSOMES VS CHROMATIN

GENES AND ALLELES

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 AND GENOTYPE

Phenotype: Visible characteristics


(physical).
Genotype: Genetic make-up.

DOMINANT AND RECESSIVE ALLELES

Dominant allele- the allele that shows in


the phenotype, no matter what the other
allele is.
Recessive allele- The allele that only
shows when it is paired with an allele of
the same type.

HOMOZYGOUS AND HETEROZYGOUS

Homozygous: Two of the same allele.


eg. TT
Heterozygous: Two different alleles. eg.
Tt

MONOHYBRID CROSS AND DIHYBRID


CROSS

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.

Pg 120-121

1. Who is Mendel?
2. What did he do?
3. Why did he choose the pea plant?

Who is Mendel?
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.

What he did

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 artists brush.
He transferred pollen
from a true breeding
white flower to the carpel
of a true breeding purple
flower.

Mendels impact

Mendels theories of inheritance, first


discovered in garden peas, are equally
valid for figs, flies, fish, birds and human
beings.
Mendels impact endures, not only on
genetics, but on all of science, as a case
study of the power of
hypothesis/deductive thinking.

3. Why did he choose the pea plant?

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

Mendels Experiments
The pure plants for each strain
were called the Parent or P1
generation
The offspring of the P generation
1
were called the first filial, or F1
generation
The offspring of the F generation,
1
the second filial, were called the F2
generation. These would be the
grandchildren of the P1
generation

Mendels Results
and Conclusions

In one of his
experiments,
Mendel crossed
a plant pure for
green pods with
a plant pure for
yellow pods

Mendels Results and


Conclusions

To his
surprise, all
of the
offspring, or
F1
generation,
had green

Mendels Results and


Conclusions

However, when
he crossed plants
from the F1
generation, the
resulting F2
generation had
about threefourths green
pods and onefourth yellow
pods

Mendels Results and Conclusions

Mendel concluded that something within


the pea plants controlled characteristics,
which he called factors
Since each characteristic had two forms,
he concluded there must be a pair of
factors controlling each trait

Mendels Results and Conclusions

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

Mendels Results and


Conclusions

Mendel reasoned
that the trait
appearing in the
F1 generation was
controlled by a
dominant factor
because it
masked, or
dominated the
other factor

Mendels Results and Conclusions

Since the trait reappeared in the F2


generation, it must be controlled by a
recessive factor
Thus, a trait controlled by a
recessive factor had no observable
effect on an organisms appearance
when it was paired with a trait
controlled by a dominant factor

Law of dominance

The trait that is observed in the


offspring is the dominant trait
(uppercase-Capital letter).
eg. T = tall

The trait that disappears in the


offspring is the recessive trait
(lowercase).
eg. t = short
*The letter used is not important
but some should be avoided. E.g.
o, w,u,p,k,s,z,x,c,v,

Law of Segregation

The paired factors separate during the


formation of sex cells.
Each reproductive cell receives
only one factor from each cell
When the gametes combine during
fertilization, the organism will again
have two factors controlling each trait

Law of Independent
Assortment (Dihybrid)

Mendel also found that


no relationship existed
between different
characteristics.
Thus, factors for
different
characteristics are
distributed to
gametes
independently

Probability

Probability tells what to expect


Probability =

Number of times an event is expected to happen


Number of opportunities for the event to happen

Predicting Results of
Monohybrid Crosses

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

Punnett Squares

First determine the genotypes for the


two parents (the P1 generation)

For this demonstration we will use T


for tall (the dominant allele) and t for
short (the recessive allele).
Mother is short (homozygous
recessive) so we will use tt
Father is tall (heterozygous), so we
will use Tt

Format for any genetic cross


(VERY IMPORTANT!!!!!)
P1 Phenotype: _________X_________
Genotype: _________X_________
Meiosis
Gametes ___; ____ X___; ____
Fertilisation
GAMETE
S

F1 Genotype: ____:______:______
Phenotype: ____:______:______

Start by drawing a box with four squares

Take the fathers


genotype and split the
letters on the side

Take the
mothers
genotype and
split the letters
on the top

Copy the letters down


and across to fill in the
first box

And the next box

And the next box

And the last box!

Determining Phenotype
Ratios

We see that we
have 50% tall and
50% short, or 2 out
of 4 for each.
We could write
this as 2:2=1:1,
using the dominant
trait first.
With phenotypes,
we can also use
percentages, such
as 50:50

Determining Genotype
Ratios

We always write
genotype ratios in the
following format:
DD:Dd:dd, or
homozygous dominant:
heterozygous:
homozygous recessive.
In this square we have a
ratio of 2Tt:2tt

Homework: Act 1 pg 129

3 GENERAL MONOHYBRID CROSSES

Example 1
Homozygous x
Homozygous 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
Homozygous x Heterozygous

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
Heterozygous x
Heterozygous

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

Example 4
Test Crosses
Sometimes

you have an organism with


a recognizable phenotype, such as curly
hair (A). However, you cannot tell if the
organism is homozygous dominant (AA)
or heterozygous (Aa)
A test cross can help you determine the
organisms genotype as well
Cross the organism with another
organism homozygous recessive (aa)
for that trait

AA x aa

Genotype ratio 4:0


Phenotype ratio 4:0

If the organism is
AA, a cross with
aa will give all
offspring showing
the dominant
trait, regardless
of how many
offspring are
generated

Aa x aa
If, however,
about half of the
offspring show
the recessive
trait, then you
can be certain
that the
genotype of the
Genotype ratio 2:2 =1:1 test organism
Phenotype ratio 2:2 = 1:1 was
heterozygous

Types of Dominance

Complete dominance one


allele is dominant over the other;
the other is recessive

Incomplete Dominance

Sometimes neither
allele is completely
dominant over the other
This results in the RW
showing an intermediate
(new) phenotype

W
W

W
W

WW

(note: 2 different letters


are used and both letters
are capital)

Exercise 1 pg 131

Example 6
Co-dominance

The coat of this cow


consists of both red
and white hairs. Both
the red and white
phenotypes show

both alleles of a
gene are equally
dominant, thus
both alleles for a
gene are
expressed in the
phenotype of a
heterozygous
offspring

Ex 2 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.

The phenotypes and genotypes for


the ABO blood groups
Phenotype
(blood group)

Genotype

IAIA (homozygous)
IAi (heterozygous)

IB IB (homozygous)
IBi (heterozygous)

AB

IAIB

ii

P1
Phenotype
Genotype:

Gametes

IA

Phenotype

IB

IA

IB

What are the genotypes?

Fertilisation
F1 Genotype

IA I B

IA IB

IA I A

IA I B

IA I B

IB IB

AB

AB

P1
Phenotype
Genotype:

Gametes

IA I B

IA IB
IA

IB

IA

IB

Fertilisation
What are the gametes?

F1 Genotype
Phenotype

IA I A

IA I B

IA I B

IB IB

AB

AB

P1
Phenotype
Genotype:

Gametes

IA I B

IA IB
IA

IB

IA

IB

Fertilisation
F1 Genotype
Phenotype

IA I A
A

What are
A the
B F1 genotypes?
A B

I I

I I

IB IB

AB

AB

P1
Phenotype
Genotype:

Gametes

IA I B

IA IB
IA

IB

IA

IB

Fertilisation
F1 Genotype
Phenotype

IA I A
A

IA I B

IA I B

AB
What are
the F1 Phenotypes?
AB

IB IB
B

P1
Phenotype
Genotype:

Gametes

IA I B

IA IB
IA

IB

IA

IB

Fertilisation
F1 Genotype
Phenotype

IA I A

IA I B

IA I B

IB IB

AB

AB

Act2 pg 139

Sex determination
44 autosomes and 2 sex
chromosomes (gonosomes)

Normal Male

Normal Female

Do a genetic cross to show the probability


of having a boy or girl child

What is Sex Linked


Inheritance

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.

Recessive alleles

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

Red-green colour blindness

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.

Red-green colour blindness


Parental
Phenotypes Normal Female (carrier)x Normal
Male
N n
N
Genotypes
XN X
Xn X
XN
YX Y
Gametes
Female Gametes

Offspring 1
Genotypes

Male
Gametes

XN

Xn

XN

XN XN

XN Xn

XN Y

Xn Y

Phenotypes

Normal Female : Normal Male : Colour blind Male


2
:
1
:
1

Haemophilia

PEDIGREE ANALYSIS

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

II
1

III
1

Mutations

Change in the nucleic acid sequence of


the genotype of an organism.

Causes of mutations

Errors in replication. Sunlight, radiation


and smoking.

Types of mutations

Gene mutation- change in the nucleotide


sequence of genes e.g.s see pg 155

Chromosomal aberration- a change in


the structure of chromosomes.

Effects of mutations

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.

Examples of 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
Albinism absence of pigmentation

Genetic engineering/modification

Genetic engineering/modificationChanging the genetic make-up of


organisms.

Biotechnology- Using organisms or their


components to benefit humans.

Examples of genetic engineering

Undifferentiate
d cells that
can become
any type of
tissue

Embryo,
umbilical
cord blood
or bone
marrow

STEM CELLS
What are they, source and uses

Examples of genetic engineering

Genetic modification

Example

Gene donor Gene


receiver

Benefit

Golden rice

Carotene
gene from
carrots

Rice

People lacking vitamin A in


their traditional diet can
make the vitamin if they eat
genetically modified golden
rice.

Salmon

Fish grow faster

Salmon that
grow faster

Examples of genetic engineering

CLONING

Views for and against genetic


engineering.

You tell me. (at least 3 each)

Dihybrid Crosses
For this cross both parents will be
heterozygous for round yellow (RrYy) peas

Place all four alleles for one parent


along the top, and those for the other
parent along the side

Dihybrid Cross

Combine the
parent alleles to
create the
possible
combinations for
the offspring.
Remember!!
Each offspring
must have 4
letters (two
alleles for each

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

Ex 5 pg 141
D- Dark fur
d- Light fur
R- Rough coat
r- Smooth coat
Heterozygous for both is crossed with light
fur and heterozygous for coat texture.

P1 Pheno:
Geno:
Meiosis
Gametes

P1 Pheno:
Geno: DdRr
X ddRr
Meiosis
Gametes

P1 Pheno: Dark and rough X Light and


rough
Geno: DdRr
X ddRr
Meiosis
Gametes

P1 Pheno: Dark and rough X Light and


rough
Geno: DdRr
X ddRr
Meiosis
Gametes
R
D
d

r
d
d

P1 Pheno: Dark and rough X Light and


rough
Geno: DdRr
X ddRr
Meiosis
Gametes
R
D
d

DR
dR

dR

dr

dR

dr

r
Dr
dr

F1 fertilisation
dR
DR
Dr
dR
dr

dr

dR

dr

F1 fertilisation
dR
DR
Dr
dR
dr

dr

dR

dr
Redundan
t
but no
issue if
you want
to do
it

F1 fertilisation
dR

dr

DR

Dd

Dd

Dr

Dd

Dd

dR

dd

dd

dr

dd

dd

dR

dr
Redundan
t
but no
issue if
you want
to do
it

F1 fertilisation
dR

dr

DR

DdRR

DdRr

Dr

DdRr

Ddrr

dR

ddRR

ddRr

dr

ddRr

ddrr

dR

dr
Redundan
t
but no
issue if
you want
to do
it

Genotype ratio: 1 DdRR:2DdRr:1Ddrr:


1ddRR:2ddRr:1ddrr
Phenotype: 3 Dark and rough:1Dark and
smooth: 3 Light and rough: 1 Light and
smooth

For those that want to

Case study 1 pg 143