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UNIT ____:

25 More Complex Genetics Name: _____________________


Essential Idea(s): Genes may be linked or unlinked and are inherited accordingly.

IB Assessment Statements and Class Objectives

10.2.A1: Completion and analysis of Punnett squares for dihybrid traits.

PROBLEM: In flowering plants, flower color is coded for by one gene and plant height is coded for by another gene on a
different chromosome. White flowers (F) are dominant over red (f) and short plants (E) are dominant over tall (e).
Two double heterozygote plants were crossed.

● Determine possible allele combinations in gametes for crosses involving two genes.
● Use correct notation to depict a dihybrid cross between two unlinked genes.
● Construct a Punnett square to show the possible genotype and phenotype outcomes in a dihybrid cross.

10.2.S1: Calculation of the predicted genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked
autosomal genes.

PROBLEM: In flowering plants, flower color is coded for by one gene and plant height is coded for by another gene on a
different chromosome. White flowers (F) are dominant over red (f) and short plants (E) are dominant over tall (e).
A true breeding short white plant is crossed with a true breeding tall red plant. These plants represent the parental
generation.

● Determine the predicted genotype and phenotype ratios of F1 and F2 offspring of dihybrid crosses.

10.2.S3: Use of chi-squared test on data from dihybrid crosses.

PROBLEM: In flowering plants, flower color is coded for by one gene and plant height is coded for by another gene on a
different chromosome. White flowers (F) are dominant over red (f) and short plants (E) are dominant over tall (e).
Two double heterozygote plants were crossed (as in 10.2.A1) and the following resulting phenotypes were
observed:
White, short: 206
Red, short: 83
White, tall: 65
Red, tall: 30

● Calculate a chi-square value to compare observed and expected results of a dihybrid genetic cross.
● Using the df and critical chi-square value, determine if there is a significant difference between observed and
expected results of a dihybrid cross.

3.4.S2: Comparison of predicted and actual outcomes of genetic crosses using real data.

PROBLEM: In cats, fur color is determined by the codominant, sex linked alleles black (XB) and orange (XO). A calico
female (mix of black and orange) is bred (many times) with a black male. They produce the following offspring:
Black female: 78
Calico female: 65
Black male: 81
Orange male: 45

● Explain the reason why the outcomes of genetic crosses do not usually correspond exactly with the predicted
outcomes.
● Describe the role of statistical tests in deciding whether an actual result is a close fit to a predicted result.
10.2.U5: Chi-squared tests are used to determine whether the difference between an observed and expected frequency
distribution is statistically significant.

PROBLEM: Color blindness is a sex-linked trait in Bombats. A female who is a carrier of the color blind allele mates with
a male who is color blind. The phenotypes of the offspring are:
Normal female: 132 Color blind male: 136
Color blind female: 124
Normal male: 126

● State the two possible hypotheses of a statistical test.


● Calculate the chi square value to determine the significance of differences between the observed and expected
results of a genetic cross.
● Determine the degrees of freedom and critical value for the chi-square test.
● Draw a conclusion of significance by comparing the calculated and critical chi-square values.

10.1.NOS: Making careful observations- careful observations and record keeping turned up anomalous data that Mendel’s law of
independent assortment could not account for. Thomas Hunt Morgan developed the notion of linked genes to account for the
anomalies.
● Describe the experiment of Bateson and Punnett that led to results that did not support Mendel’s law of independent
assortment.
● Describe the trends and discrepancies that led Morgan to propose the idea of linked genes.

10.2.NOS: Looking for patterns, trends and discrepancies- Mendel used observations of the natural world to find and explain
patterns and trends. Since then, scientists have looked for discrepancies and asked questions based on further observations to
show exceptions to the rules. For example, Morgan discovered non-Mendelian ratios in his experiments with Drosophila.
AND
10.2.A2: Morgan's discovery of non-Mendelian ratios in Drosophila.
● Describe the trends and discrepancies that led Morgan to propose the idea of linked genes.

10.2.U2: Gene loci are said to be linked if on the same chromosome (Oxford Biology Course Companion page 448).
● Define autosome and sex chromosome.
● Describe what makes genes “linked.”

10.2.S2: Identification of recombinants in crosses involving two linked genes.

PROBLEM: The genes for pollen shape and flower color are located on the same
chromosome as each other, thus are inherited together. Purple (P) and long pollen (L)
are dominant to red (p) and round pollen (l). What are the possible genotypes and
phenotypes of the F1 offspring if the parents are PPLL × ppll? If two F1 plants are
crossed, calculate the genotypes and phenotypes in the F2 generation (without
crossing over). Calculate the relative genotypes and phenotypes in the F2 generation
with crossing over in the F1.

● Use correct notation to show alleles of linked genes.


● Construct a Punnett square to show the possible genotype and phenotype outcomes in a dihybrid cross
involving linked genes.
● Explain how crossing over between linked genes can lead to genetic recombinants.

10.2.U4: The phenotypes of polygenic characteristics tend to show continuous variation.


● Explain polygenic inheritance using an example of a two gene cross with codominant alleles.
● State that a normal distribution of variation is often the result of polygenic inheritance.
● State two example human characteristics that are associated with polygenic inheritance.

10.2.A3: Polygenic traits such as human height may be influenced by environmental factors.
● Outline two example environmental factors that can influence phenotypes.
● Compare continuous to discrete variation.
genes may be linked/unlinked

Unlinked Genes follow Mendel’s Law of Independent Assortment: 3 inherited


accordingly

The amazing Mendel did these experiments too (yes, he used peas). We’ll examine one of his
experiments closely. Monohybrid: Law
itdoes
of
independent genetic factors involved
assortment. in

not
affect
the other heredity move
meiosis
independentin

Diff
Let’s look at two genes: one for seed snape and one for seed Color
->
.
chromosome

2 alleles
->
Each of the genes has differentchromosomes (versions of the gene):
○ R and r controlling for ____________________________.
seed shape

Round (R) Wrinkled (r)

○ Y and y controlling for ______________________________


seed color

Yellow (Y) Green (y)

mrs
&
The genotype for pure breeding round yellow is written as RRYY while pure breeding wrinkled green is
written as rryy.

3
Round Yellow Wrinkled Green
(RRYY) (rryy) crossed:
all
offspring
↳ (F1 gen)


gameta:my gamere:
ry
=hererozygous
possible <possible gameres
(R3/ry)
gamers

I allele each gene ends up in the


Only ________________________________________________________________________
of
(because of
gametes

the ____________________________________________),
law of segregation during meiosis so the gametes for the pure breeding round
yellow must be RY and for the pure breeding wrinkled green ry .
Round Yellow (RRYY) Wrinkled Green (rryy)
all
Germ cell
F, offspring
Germ
are cell
RIIR al-diploid round
3 yellow ~1 In al-Diploid
unreplicated have un

↑ 114 RrYy y11y replicated

DNA
DNA replication
replication S
phase
S
phase

aXXR ~XrrXr
G2-diploid
y
NYyXY replicated yxyyxy42-diploid replicated

meiosis meiosis (

RXr RXR rXr End of ryn


End
meiosis
of MI meiosis 2 meiosis 2
2 hapsoid Xy
Y XY rep- y Xy Mejosisz y ml-
haploid y Xy
licated replicated

End of
Gameres M2 All
RY >
-

RIly ally tr
haploid
RI ly RIY gameres- rily ally r(13 r) ly
are ry
un repli-
cared
Gamere Gamere hamere Gamere camera
namese Gamese Gamere

heterozygous different
allele gametersexual Dominant
showing
homozygous:same allele somatic:asexual
Recessive:
smaller one
When the pure breeding smooth yellow RRYY are crossed with the pure breeding wrinkled green rryy, all
I offspring are round & yellow
the _______________________________________________ RrYy
and have the genotype ________________.
Round Yellow (RRYY) X Wrinkled Green (rryy)
Because yellow is
dominant
green over
RRYY


3 smooth uryy
is
dominant
over
wrinkled ↓ meiosis

↳ X ry
RY

Be genes
meiosis
gamete
gamete

the
get the

each
at
You can
trait.
in -
dependently I
Fertilization

-> All
RrYy

Then the _______________


Fl Fi
plants were crossed (_______________ Fl
x _______________ )

There are four possible gametes created from a RrYy plant


↳> RY
Ry
rY
ry

variation in
gameres arises

Independent assortment
-

RBY independently
separate of each other
genes

unlinked genes are


-

located on different
chromosomes
The potential combinations of gametes of a RrYy x RrYy cross can be shown in a 16 square Punnett square:

RY Ry rY ry

RRYY RRYY RrY Y RrYy


RY

RRYY
RRYY RrYy Rryy
Ry

RrYy Rr Yy rryy or yo
rY

RrYy RrYY rrYy rrgy


ry

9:3:3: 1
The results in the F2 generation show a ______________________ ratio of phenotypes
● 9 yellow round

● 3 green round

● 3 yellow wrinkled

● 1 green wrinkled

New combinations of traits different from those shown in the parent line are called ___________________.
recombinants

In the RrYy x RrYy the parents were round and yellow. So, the recombinant offspring would be the ones that
are:
● Round Green

● wrinkled yellow

● wrinkled green
t
in

ROUndtall:DRTT - RrTE

wrinkled dwarf:rret

i
tt
t
Chi Square Goodness of Fit (X2)
Pronounced “kai square”

1. Scientists use a statistical test called Chi Square (X2) Goodness of Fit to determine if there is
Statistically significant difference between observed results and expected results. The test is often used in

genetics to determine if the actual offspring in a mating match the expected offspring as determined
by a Punnett Square.

2. Remember, SIGNIFICANT in statistics means:


The traits are linked and do not
independently
assor t

3. X2 tests the NULL HYPOTHESIS.


The null hypothesis predicts that there will be no real significant difference between our observed
results and the expected results. In other words, any observed variation between what we expect
and what we actually observe is due to chance alone.

4. When there is a true significant difference, we would call this our ALTERNATIVE HYPOTHESIS:
Something more than chance is causing a difference between the observed results and the
expected results.

5. The first step in the calculation of an X2 value is to determine the expected numbers and actual,
observed numbers for each category.

Chi Square Calculation Table


Observed Expected
Categories (O-E)2 / E
Values Values
9 I (100 =
x
25 56 0.16
Tall 23
=

round

3 I Tall wrinkled 25
25
1 INx
I ⑧

3
I
Dwarf round 26
25 1100 x 0.04

(Ioxis
I I 25
- Dwarf wrinkled 26 0.04
16 Total 0.24
Example ↳ =
x
3)0-z)2]/E
=

6. Then, use the following formula for each category, where O is observed and E is expected:

(O – E)2
E

7. The results are added together to get a final calculated X2 value.


8. The calculated X2 value is then compared to the “critical value X2” found in an X2 distribution table.
The X2 distribution table represents a theoretical curve of expected results. The expected results are
based on DEGREES OF FREEDOM.

Degrees of Freedom = number


categories
of
(phenotypes) -

I

Dihybrid

monohybride l
2
9. The X distribution table is organized by the Level of Significance. The level of significance is the
maximum tolerable probability of accepting a false null hypothesis. We use 0.05. This means
that we would accept the null hypothesis if the observed results were within 5% of the expected
results.

Critical X2 value = 0.05

10. Using our calculated and critical X2 values, we can draw a conclusion of significance:

● If the calculated value is lower than the 5% level of significance, accept the null hypothesis.

● If the calculated value is higher than the 5% level of significance, reject the null hypothesis.

“The X2 obtained was __________.


0.24 The critical value X2 (found in the distribution table) was
________.
7.015 The calculated value is ____________
3 (lower or higher) than the 5% level of significance,
so we can _____________
accept (accept or reject) the null hypothesis. This means that …………………”
there is significant
no

difference
Two Gene Cross Practice Problem

A
TtOr

fr Tr

tr tr
Direct
relationship between
phenotype variability and

Polygenic Inheritance & Variation


the number of
genes that
influence the
phenotype
>The wider
> The
range phenotype
of for afrait:m o re genes are
controlled
fewer
range of
phenotype for a trait:fewer genes thatcontrol it

Single phenotypic character


determined
Definition: ·Found in traits that
by two more
genes
show bell curve
variation in a
population

Example:
(Monogenic
Skin
tone, hair color
-
·Dark
skine additive
polygenic inheritance)
effect

Discrete Variation Continuous Variation


Define: clearly defined
categories in
Define: range phenotypes
of
a from
can
be
characteristic that another one extreme
to
observed in
a
population

Cause: differentalleles
at
a
Cause: combined effects
single locus
of
many genes
One
(polygenic
-

gene

Blood
Examples: groups Examples: ·

Height
widow's peak
(Y/N) ·

skin
color

weight
·

skin color ->


sunlight
height - of
lack
nutrition

polygenic traits
mightb e impacted
by
environmental factor
Linked Genes DO NOT follow Mendel’s Law of Independent Assortment

William Bateson and Reginald Punnett conducted a cross in sweet pea involving two different traits; flower
color and pollen shape.

->
Fertilization

PpLIX PPLI
9/161311613/1611/16

Based on unlinked
Total times
genes
(PPL/xPPLI) expected ratio

F2 Phenotype Observed Expected Ratio Expected Number (O-E)2 / E

Purple long 284 9/16 214.3


22.7

Purple round 21 3/16 >1.4 35.6

Red long 21 3/16 71.4 33.6

Red round 55 1116 23.9 40.9

TOTAL 381 3 Pl 134.0

DF 3 =

critical x
7.81
=

Observed I
expected

Conclusion: Crosses produced deviations from the predicted Mendelian Independent Assortment ratios. They
suggested that the transmission of the two traits from the parents was somehow coupled.

parental phenotypes reappeared more


free than
↳ expected

Researcherhyponnesinthat
between
thereis acoupling
conein
↓ the
explained
by
Thomas
Hunt
morgan
Phenotypic ratio will
be
more
linked
closely aligned monohybrid cross
to
genes a genes
represented inherit
as
vertical single with
Two
horizontal lines pairs.

each
Beach,inlogous
A
line
representone pair

chromosome
letter:
A
·e.g.
-B genes on

combinechrome
A
We e
the
at
chromosome
l oci
different
B
unlinked AABB
rotationforhomozygotes

Linkage is the tendency for a group of genes, on the same chromosome, to be


inherited together
D ↳
Do notassor t
independently - bas they're on the same chromosome
"I
↳ I is going
w/L because
Example: they're on the same

chromosome

flower color is on one chromosome


Gene for _______________ Gene for _______________
pollen shape is on the same chromosome
Dominant allele: ______=
P ___________
purple Dominant allele: ______=
L ___________
long

Recessive allele: ______=


P
___________
rec Recessive allele: ______=
I ___________
round

-> PL//p1

- e
- I
3

:
I

↓ self-fertilization

I
**
*
linked
> Fertilization genes have
lines
I slashe

PL/p)
When the genes are linked, the possible games from a heterozygous individual are _______
PL//p1 and _______.
PL//P1 Therefore,
if you cross two parents, both heterozygous for two genes AND THE GENES ARE LINKED, the Punnett Square looks
like:

↳ -
PL

- -

Identify recombinants in the F2 generation


3:1
Thomas Hunt Morgan’s Discovery of Linked Genes
Thomas Hunt Morgan designed a series of experiments using fruit flies (Drosophila melanogaster) that:
● Reinforced Mendel’s principle of Independent Assortment for some traits (observed ratios in offspring as
expected by Punnett Square crosses)

● Identified exceptions to Mendel’s principle of Independent Assortment for other traits (observed ratios in
offspring that did not match what was expected by Punnett Square crosses).

● Through a series of experiments, Morgan was able to show that some traits are inherited together (for example
fruit fly eye color and sex). He discovered LINKED GENES

notassor tindependently
● do during meiosis (genes move together)
Because they are linked, linked genes ___________________________________________________________

BIG IDEA…

genes on the same chromosome are inherited together:Gene Linkage


. while eye trait ->
sex linked
present
only on x (x)
chromosome
↳ absent
on y

males
have
only one
chromosome can
X
gene
on
the express
chromosome only the
Morgan carried
we
different
dihybria -
traits
Ratios that
he
obtained
mendalian was
different
inheritance than
mandals
predictable
is

ratios
on based
He different
determined that
trains
being
there on
differentparts
Csex/chromosomes are
different
patron
of
chromosome
of
inheritance
for
unlinked a
linked
different genes
chromosome
Linked -
same
chromosome

Linkage can cause departure from expected ratios


Crossover of Linked Genes
Review:
- Crossing over is the _________
exchange of DNA material between ______________
nonsister homologous chromatids at the point of

exchange called the _________________


chiasmata during Prophase I.
- ____________________
new allele combination occur as a result of crossing over of genetic material during prophase I of meiosis

Identifying Recombinants: riluuuumgene


- Recombinant phenotypes can be identified by performing a _____________________
test
c ross (crossing with
a homozygous recessive for both traits)
·exchange ofallele between non-sister
chromatids occu r when linked
genes become
seperated

Step 1: First cross over and exchange DNA between the maternal and paternal chromosomes
Step 2: Separate the maternal and paternal (via meiosis) to form gametes keep the same format
Step 3: Complete a Punnett square between the possible gametes
Step 4: Write the possible offspring (with the same format)

Example problem:

=
-
E
↳ 1

Switch it
-

gametes:
gametes:

T B t b b
-

Tb

/ one
from
parents
the
white tall parent Red short parent

I fee feE
En
E
Fe Fefe fe f

O
XB x

XBXo x *yB
FE Fe fE fe

B
x yo FE FFEEFEEe FfEE FfEe
2 *
I -
*
xBxBxBy0 FFeeFfeeffee
x Fe FFEe ↳

y xBy xoy f E
2
FfEE Ffe fee
ffze
I I

se FeeFreeffee free

2:2:2:1:4:1
Ffze:34 FFEE:I
1.2:
FFze: 2

FFEE 2
Ffee:32
=

ffze:2

EE:I
Free
#

1:1:2: 2: 2: 2:4
Summary - Linked vs Unlinked Genes
In this unit, we have examined the simultaneous inheritance of two (or more) genes. The genes we examine can be
“unlinked” or “linked.”

Unlinked Genes Linked Genes


Genes found on: differentchromosomes Genes found on: same chromosome

independently
Inherited __________________________________ Inherited __________________________________
together

because the chromosomes assort independently during unless __________________


cross
over occurs during meiosis. .
meiosis.

un
maternal

paternal
A-
-
a
or with
X
independent

X-s
assor tment

B -
Y
X X
-
b

Notation: Notation:
Aab heterozygous
two
genes b heterozygous
two
genes

Gametes made: Gametes made:

Belle it setta gets at s


it
A
-

7
- B
-

25% 25% 25% 25% More More Fewer Fewer


non
only we
crossing over

Phenotypic ratio of a cross AaBb X AaBb: Phenotypic ratio of a cross AaBb X AaBb:

9:A- B-
3:A- bb
dominantdominant

dominant
recessive
x
3:9aB recessive dominant

1: aabb recessive dominant not:


9: 3: 3:
1
Practice

I tongue rolling

t nor
tongue rolling

B Free hanging

b attached

1.) Tebb ->


tongue rolling' attached

B
2

·

unlinked
·Linked

·same Different chromosome


chromosome

3.) gametes -
I 1b B
+

e
Tb

t B

4.)
areinthe

a
lot n8

A
llE

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