ENVIRO

GENETICS
no need to know
for tests
definitions
Genetics
The study of how individuals inherit characteristics from
their parents is called GENETICS
HEREDITY is the transmission of characteristics
from parent to offspring.

GREGOR MENDEL (1822-1884)

•considered the “father of genetics”

and a priest
• his work with garden peas explained
the mechanism of gene inheritance in
plants and provided a basis for understanding
heredity in general
he was curious about
some peas were different from others
PEA EXPERIMENT
Mendel followed the inheritance pattern of traits in pea
plants.

In order to understand his experiment, here are some

important vocabulary terms:
something you can visually see can be observed
Trait: Genetically inherited feature in an organism
- Ex: pea colour, pea shape, eye colour, hair colour…

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ÉEE aabat
P1 Generation: The parental generation in a breeding
experiment. First generation
all generations after P1
F1 Generation: Offspring of cross-bred P1 Generation

Cross-pollination: involving 2 genetically different

plants.
bisexual reproduition Lith plants
PEA EXPERIMENT
Traits that
Mendel
studied in his
pea plants.
 a and Aallele gmpatel.me
receive one allele from parent
greenpeas and yellow peas WHAT DID
MENDEL yellow green
NOTICE?
gyrosoff
P1
Aminant over
1
94 9g I When crossing a yellow and a green pod
together all offspring were produced yellow
pods.

When cross-pollinating the new generation,

F1 however, 25% of the population produced green
pods.

This led Mendel to the discovery that certain

F2 traits show dominance (example: yellow pod
shows dominance over green).

This also led to the discovery that some traits,

though not expressed can still be passed down
to a future generation (green pod appearing F2)
Law of meiosis alleles are separated
(segregated)

Segregation during the formation of

gametes

diploid
phloid

happy
MORE
Alleles: alternative forms of a gene,
gametes contain 1 allele
• letters are used to represent alleles
• capital letter – dominant allele

VOCAB!
• lower case letter – recessive allele
ext brown blue
Dominant Allele: masks or dominates
another trait
e.g. in peas, purple flower colour is
dominant to white,
so if a pure purple plant is crossed with a
white plant, all
offspring plants will have purple flowers

Recessive Allele: allele that can be

masked by the presence of another allele
e.g. allele for white flower colour in
pea plants
Law of alleles for different
characteristics are distributed

Independent to gametes independently

Assortment
Egg and sperm come
Together during fertilization
to form an offspring that
gets 1 allele from mom
and 1 from dad. These
are the potential offspring
that could arise in this case
 Remember, the previous example showed alleles for 1 GENE.

The DNA in each of your cells makes up

approximately 30 000 genes, each of which is responsible for
making a particular protein.

Each time an egg or sperm cell is formed, it contains 1 allele

for each of the 30 000 genes!

Each of these alleles are randomly distributed into the

egg (1 a month) or sperm (millions at a time), and the
egg and sperm
randomly combine during sexual reproduction.

This means the chance of two parents having children that

are genetically identical (unless they are identical twins) is
impossibly low. The alleles that are inherited for each gene are
bound to be different.
 GENETIC CROSSES
01
Genotype: the genetic makeup (alleles)
of an organism

Phenotype: the appearance of an organism

as a result of its genotype

Genotype determines phenotype

Y – yellow seed Yy – genotype

y – green seed yellow – phenotype

Homozygous: genotype in which both alleles of a pair are

the same (e.g. YY or yy)

Heterozygous: genotype in which alleles

of a pair are different (e.g. Yy)
Monohybrid
• Cross between individuals that involves one pair of
contrasting traits (e.g. one gene)

Crosses
• A PUNNETT SQUARE is used to help predict the
probability that certain traits will be inherited

R=round pea allele and

r=wrinkled pea allele
Fl Q
 test d title
Homozygous Round x Homozygousftp.t.se
Wrinkled
RR rr genotypes
RR – homozygous round pea of R R
rr – homozygous wrinkled pea r Rr Rr Genotype:
und r
Rr Rr 100% Rr
R R
Phenotype:
100% Round
r Rr Rr

r Rr Rr
Homozygous Round x Heterozygous Round
RR
RR – homozygous round pea R R R Rr
Rr – heterozygous round pea R RR RR
Genotype:
rr Rr 50% Rr
50% RR titsame
R R but are

Phenotype: sea e

R RR RR 100% Round
peal

r Rr Rr
Heterozygous Round x Heterozygous Round
Rr Rr
Rr – heterozygous round pea
Rr – heterozygous round pea
Genotype:
25% RR
R r 50% Rr
25% rr Hi L
T

R RR Rr Phenotype:
75% round
¾ 25% wrinkled
I
r Rr rr
run wrinkled
 it around
EMILIE
TEST CROSSES
Round pea
What if you have an individual whose
has the dominant phenotype but an
unknown genotype?
(e.g. round seed – could be RR or Rr)

Do a testcross in which the individual

III with the unknown

genotype is crossed with a homozygous
recessive individual
if it was
cross with 10mn299
R times
Than
 i

TEST CROSSES

r r r r

R Rr Rr R Rr Rr

R Rr Rr r rr rr

If the unknown individual is homozygous round, then none of the offspring will be wrinkled. If
the unknown individual is heterozygous round, then 50% of the offspring will be wrinkled.
 02 Incomplete
Dominance
•inheritance relationship that occurs
when both alleles influence the
phenotype (one allele is not
dominant over the other)

• results in an intermediate
phenotype between the dominant
and recessive phenotypes
 INCOMPLETE DOMINANCE
R=red flowers and r=white flowers
Rr=pink flowers
r r
middle
m
parents
between R Rr Rr

R Rr Rr

A red flower and a white flower cross to have a

pink x pink genotype that is 100% Rr and a phenotype that
501 pink is 100% pink flower.
 and
251 white

03
Codominance
Occurs when both alleles for a gene are
equally expressed in a heterozygous
offspring.

Neither allele is dominant or recessive, and

neither do they blend.

Ex: Blood typing (A, B and O)

 Blood Typing
In blood typing, there are three possible alleles:
- IA (dominant)
- IB (dominant)
- i (recessive)

Here is a chart of the possible phenotypes for each blood type

genotype
Blood Type
too
Phenotype

A IAIA or IAi

B IBIB or IBi

AB IAIB

O ii
 flight

h JIFFY
hf 25 Bfi
A i
25.1
25.1 if

phenotype
25 1 AB

251 B

2511 A
25 1 I
Homozygous Blood type A with Blood type O
IAIA – homozygous blood type A
ii – homozygous blood type O
Genotype:
100% IAi
IA IA
Phenotype:
100% blood type
i IAi IAi A

i IAi IAi
Heterozygous Blood type B with Blood type AB
IBi – heterozygous blood type B
ii – blood type AB
Genotype:
25% IAIB
25% IBIB
IA IB 25% IAi
25% IBi

IB IAIB IBIB Phenotype:

25% AB blood
type
i IAi IBi 50% B blood type
25% A blood type
 DYHIBRID CROSSES
04 Crosses involving two traits.

The Punnett square will have 16 boxes and each parent

will have a possibility of 4 alleles to pass down.

R=round peas, r=wrinkled peas,

Y=yellow peas, y=green peas
 Homozygous round yellow with
Homozygous green wrinkled
RRYY= Homozygous round and yellow (possible alleles are RY, RY, RY, RY)
rryy = homozygous wrinkled and green (possible alleles are ry, ry, ry, ry)
Genotype:
RY RY RY RY 100% RrYy

Phenotype:
ry RrYy RrYy RrYy RrYy
100% round and
yellow peas
ry RrYy RrYy RrYy RrYy
1111
ry RrYy RrYy RrYy RrYy

ry RrYy RrYy RrYy RrYy

 Heterozygous both round and yellow with
Heterozygous both round and yellow
RrYy= Heterozygous both round and yellow (possible alleles are RY, Ry, rY, ry)
RrYy= Heterozygous both round and yellow (possible alleles are RY, Ry, rY, ry)
Genotype:
6.25% RRYY
12.5% RRYy
RY Ry rY ry 12.5% RrYY
6.25% RRyy
25% RrYy
RY RRYY RRYy RrYY RrYy 12.5% Rryy
6.25% rrYY
12.5% rrYy
Ry RRYy RRyy RrYy Rryy 6.25% rryy
Phenotype:
56.25% Round and yellow
rY RrYY RrYr rrYY rrYy 18.75% Round and green
18.75% wrinkled and
yellow
ry RrYr Rryy rrYy rryy 6.25% wrinkled and
green
 browneyes Bloodtype O
homozygous eyes blood type AB
heterozygous blue
A B
BBii Bb B
A
b
B Bi Bi B 1A B1 b

Bi Bi
M Bi Bi
B

btfbt BIBI
T

B
Bbp
b
phenotype
genotype
25 8455,9501
BB Ai
25
BBBi brown eyes
50
Bb Ai
251 Types
25
Bb Bi
 05 Sex-Linkage
•X-Linked genes are found on X
chromosomes.

•Y-Linked genes are found on Y

chromosomes

•Sex-linkage: the presence of a

gene on a sex chromosome
Common Sex-Linked Disorders

Red-Green Duschenne Muscular

Colourblindness Hemophilia Dystrophy
● Lacking either red ● Lacking one or more ● Progressive muscular
sensitive or green blood-clotting factors wasting.
sensitive cones cells in
the retina
 Sex-Linked Crosses
Similar to crosses involving autosomal genes.

Instead of using capital letters to represent dominant traits and lower-case letters to
represent recessive traits, we use X and Y chromosomes with superscripts.

A capital letter superscript represents a dominant normal condition, and a lower-case

superscript letter represents the recessive condition.

A heterozygous female for an X-linked trait is called a carrier

Ex: Colour blindness

XBXB = normal female
XBXb= carrier female
XbXb = colour-blind female
XBY = normal male
XbY= colour-blind male
 A carrier female for hemophilia and a normal
H h
X X = carrier female
male
XHY = normal male Genotype:
25% XHXH
25% XHXh
XH Xh 25% XHY
25% XhY

Phenotype:
H H H H h
X X X X X 25% Normal female
25% carrier female
25% normal male
25% male with
Y XHY XhY hemophilia
Polygenic Trait
Trait controlled by two or more genes.

Influenced by the additive effects of the

genes involved .

Can be influenced by the environment.

Ex: Height, Hair colour, eye colour, weight

Sex-Influenced Traits
The expression of the trait is influenced by
male or female hormones.

Ex: male-pattern baldness. There are bald

and not bald alleles but the alleles are
influenced by the appearance of
testosterone.
PEDIGREES
 PEDIGREES
A pedigree is a diagram that shows how genes are inherited over several
generations.
Hints for pedigrees: Dominant trait
- Affected individuals have at least one affected parent (A)
- The phenotype usually appears in every generation
- Affected offspring are both males and females
- Two unaffected parents only have unaffected offspring
- Two affected parents can have unaffected offspring (B)

A B
Hints for pedigrees: Recessive trait
- Unaffected parents can have affected offspring (B)
- Affected offspring are both male and female
- If both parents are affected, all offspring will be affected

A B
Hints for pedigrees: X-Linkage
- More males will be affected than females
- If the mother is affected, the son must be affected (A)
- If both parents are affected, the daughter will be affected

A
 Example 1:
The pedigree below is studying the incidence of blonde hair in a family. In humans, dark hair
(B) is dominant to blonde hair (b). In this case, individuals who are shaded in are
homozygous recessive. Individuals who have clear circles and squares have at least one
dominant gene. What are the genotypes of all the individuals?
 Example 2:
The pedigree below traces the inheritance of a very rare biochemical disorder in humans. Affected
individuals are indicated by filled-in circles and squares. Is the allele for this disorder dominant or
recessive? What genotypes are possible for the individuals marked 1, 2, and 3.
 Example 3:
The pedigree below traces the inheritance of alkaptonuria, a biochemical disorder. Does alkaptonuria
appear to be caused by a dominant or recessive allele? Fill in the genotypes of the individuals whose
genotypes you know. What genotypes are possible for each of the other individuals?