10.2 - Inheritance - MBR

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10.

2 Inheritance (AHL) Essential idea: Genes may be linked or


unlinked and are inherited accordingly.

Download the ppt without ans and the


notes and class task pages from the
content library. Save these in your laptop.
The diagram shows a gene map of a fruit fly (Drosophila
melanogaster) chromosome. All the gene loci occur on the
same chromosome and so all will be inherited together, Create three pages on your onenote:-
unless crossing over occurs during meiosis: the closer
together the loci, the stronger the gene linkage.
• 10.2 – Inheritance - class notes
• 10.2 - Homework
10.2 – Self evaluation
Understandings, Applications and Skills
Statement Guidance
10.2.U1 Gene loci are said to be linked if on the same
chromosome.
10.2.U2 Unlinked genes segregate independently as a
result of meiosis.
10.2.U3 Variation can be discrete or continuous.
10.2.U4 The phenotypes of polygenic characteristics tend
to show continuous variation.
10.2.U5 Chi-squared tests are used to determine whether
the difference between an observed and expected
frequency distribution is statistically significant.
10.2.A1 Morgan’s discovery of non-Mendelian ratios in
Drosophila.
10.2.A2 Completion and analysis of Punnett squares for Alleles are usually shown side by side in
dihybrid traits. dihybrid crosses, for example, TtBb.
10.2.A3 Polygenic traits such as human height may also be
influenced by environmental factors.
10.2.S1 Calculation of the predicted genotypic and
phenotypic ratio of offspring of dihybrid crosses
involving unlinked autosomal genes.
10.2.S2 Identification of recombinants in crosses involving In representing crosses involving linkage,
two linked genes. show genotypes as vertical pairs seperated by
horizontal lines repesenting the
chromosomes.
10.2.S3 Use of a chi-squared test on data from dihybrid
crosses.
Review: 10.1.U7 Independent assortment of genes is due to the random orientation of pairs of homologous
chromosomes in meiosis I.

Random Orientation vs Independent Assortment


“The presence of an allele of one of the
genes in a gamete has no influence over
which allele of another gene is present.”
Random Orientation refers to the
behaviour of homologous pairs of
chromosomes (metaphase I) or pairs of
sister chromatids (metaphase II) in
meiosis.
Independent assortment refers to the
behaviour of alleles of unlinked genes as
a result of gamete production (meiosis).

Due to random orientation of the chromosomes in


metaphase I, the alleles of these unlinked genes have
become independently assorted into the gametes.

Animation from Sumanas:


http://www.sumanasinc.com/webcontent/animations/content/independentassortment.html
Review: 10.1.U7 Independent assortment of genes is due to the random orientation of pairs of homologous
chromosomes in meiosis I.

Mendel’s Law of Independent Assortment


“The presence of an allele of one of the
A and B are different genes on
genes in a gamete has no influence over different chromosomes.
which allele of another gene is present.”
A is dominant over a.
B is dominant over b.

This only holds true for unlinked genes


(genes on different chromosomes).

e
All four genotypes ar
possible therefore
10.2.U2 Unlinked
genes segregate
independently as a
result of meiosis.
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

Dihybrid Crosses Consider two traits, each carried on separate


chromsomes (the genes are unlinked).
In this example of Lathyrus odoratus (sweet pea), Key to alleles:
we consider two traits: pea colour and pea surface. Y = yellow
y = green
What is the predicted phenotype ratio for a cross between S = smooth
two pea plants which are heterozygous at both loci? s = rough

Phenotype:
F0 Heterozygous at both loci Heterozygous at both loci
Genotype:
Punnet Grid: gametes

F1
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

Dihybrid Crosses Consider two traits, each carried on separate


chromsomes (the genes are unlinked).
In this example of Lathyrus odoratus (sweet pea), Key to alleles:
we consider two traits: pea colour and pea surface. Y = yellow
y = green
What is the predicted phenotype ratio for a cross between S = smooth
two pea plants which are heterozygous at both loci? s = rough

Phenotype: Smooth, yellow Smooth, yellow


F0 Heterozygous at both loci Heterozygous at both loci
Genotype: SsYy SsYy
Punnet Grid: gametes

F1
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

Dihybrid Crosses Consider two traits, each carried on separate


chromsomes (the genes are unlinked).
In this example of Lathyrus odoratus (sweet pea), Key to alleles:
we consider two traits: pea colour and pea surface. Y = yellow
y = green
What is the predicted phenotype ratio for a cross between S = smooth
two pea plants which are heterozygous at both loci? s = rough

Phenotype: Smooth, yellow Smooth, yellow


F0 Heterozygous at both loci Heterozygous at both loci
Genotype: SsYy SsYy
Punnet Grid: gametes SY Sy sY sy
SY SSYY SSYy SsYY SsYy
Sy SSYy SSyy SsYy Ssyy
sY SsYY SsYy ssYY ssYy
sy SsYy Ssyy ssYy ssyy

F1
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

Dihybrid Crosses Consider two traits, each carried on separate


chromsomes (the genes are unlinked).
In this example of Lathyrus odoratus (sweet pea), Key to alleles:
we consider two traits: pea colour and pea surface. Y = yellow
y = green
What is the predicted phenotype ratio for a cross between S = smooth
two pea plants which are heterozygous at both loci? s = rough

Phenotype: Smooth, yellow Smooth, yellow


F0 Heterozygous at both loci Heterozygous at both loci
Genotype: SsYy SsYy
Punnet Grid: gametes SY Sy sY sy
SY SSYY SSYy SsYY SsYy
Sy SSYy SSyy SsYy Ssyy
sY SsYY SsYy ssYY ssYy
sy SsYy Ssyy ssYy ssyy

F1 Phenotypes: 9 Smooth, yellow : 3 Smooth, green : 3 Rough, yellow : 1 Rough, green


10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

TASK:-Dihybrid Consider two traits, each carried on separate


chromsomes (the genes are unlinked).
Crosses Key to alleles:
In this example of Lathyrus odoratus (sweet pea), Y = yellow
we consider two traits: pea colour and pea surface. y = green
S = smooth
Calculate the predicted phenotype ratio for: s = rough

Phenotype:
F0 Heterozygous at both loci Heterozygous for S, homozygous dominant for Y
Genotype:
Punnet Grid:

F1 Phenotypes:
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

Dihybrid Crosses Consider two traits, each carried on separate


chromsomes (the genes are unlinked).
In this example of Lathyrus odoratus (sweet pea), Key to alleles:
we consider two traits: pea colour and pea surface. Y = yellow
y = green
Calculate the predicted phenotype ratio for: S = smooth
s = rough

Phenotype: Smooth, yellow Smooth, yellow


F0 Heterozygous at both loci Heterozygous for S, homozygous dominant for Y
Genotype: SsYy SsYY
Punnet Grid:

F1 Phenotypes:
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

Dihybrid Crosses Consider two traits, each carried on separate


chromsomes (the genes are unlinked).
In this example of Lathyrus odoratus (sweet pea), Key to alleles:
we consider two traits: pea colour and pea surface. Y = yellow
y = green
Calculate the predicted phenotype ratio for: S = smooth
s = rough

Phenotype: Smooth, yellow Smooth, yellow


F0 Heterozygous at both loci Heterozygous for S, homozygous dominant for Y
Genotype: SsYy SsYY
Punnet Grid: gametes SY sY
SY
Sy
sY
sy

F1 Phenotypes:
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

Dihybrid Crosses Consider two traits, each carried on separate


chromsomes (the genes are unlinked).
In this example of Lathyrus odoratus (sweet pea), Key to alleles:
we consider two traits: pea colour and pea surface. Y = yellow
y = green
Calculate the predicted phenotype ratio for: S = smooth
s = rough

Phenotype: Smooth, yellow Smooth, yellow


F0 Heterozygous at both loci Heterozygous for S, homozygous dominant for Y
Genotype: SsYy SsYY
Punnet Grid: gametes SY sY
SY SSYY SsYY
Sy SSYy SsYy
sY SsYY ssYY
sy SsYy ssYy

F1 Phenotypes:
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

Dihybrid Crosses Consider two traits, each carried on separate


chromsomes (the genes are unlinked).
In this example of Lathyrus odoratus (sweet pea), Key to alleles:
we consider two traits: pea colour and pea surface. Y = yellow
y = green
Calculate the predicted phenotype ratio for: S = smooth
s = rough

Phenotype: Smooth, yellow Smooth, yellow


F0 Heterozygous at both loci Heterozygous for S, homozygous dominant for Y
Genotype: SsYy SsYY
Punnet Grid: gametes SY sY
SY SSYY SsYY
Sy SSYy SsYy
sY SsYY ssYY
sy SsYy ssYy
6 Smooth, yellow : 2 Rough, yellow

F1 Phenotypes: 3 Smooth, yellow : 1 Rough, yellow Present the ratio in the simplest
mathematical form.
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

Dihybrid Crosses Common expected ratios of dihybrid crosses.

SsYy SsYy SsYy SsYY


Heterozygous at Heterozygous at Heterozygous at Heterozygous at one locus,
both loci both loci both loci homozygous dominant at the other
SY Sy sY sy SY sY
SY SSYY SSYy SsYY SsYy SY SSYY SsYY
Sy SSYy SSyy SsYy Ssyy Sy SSYy SsYy
sY SsYY SsYy ssYY ssYy sY SsYY ssYY
sy SsYy Ssyy ssYy ssyy sy SsYy ssYy

9:3:3:1 3:1

SsYy Ssyy SSyy ssYY


Heterozygous at Heterozygous/ = All SsYy
both loci Homozygous recessive
Sy sy SSYY ssyy = all SyYy
SY SSYy SsYy
Ssyy ssYy =1:1:1:1
Sy SSyy Ssyy
sY SsYy ssYy
sy Ssyy ssyy

4:3:1
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

Dihybrid Crosses Consider two traits, each carried on separate


chromsomes (the genes are unlinked).
In this example of Lathyrus odoratus (sweet pea), Key to alleles:
we consider two traits: pea colour and pea surface. Y = yellow
y = green
A rough yellow pea is test crossed to determine its genotype. S = smooth
s = rough

Phenotype:
F0 Rough, yellow

Genotype:
Punnet Grid:

F1 Phenotypes:
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

Dihybrid Crosses Consider two traits, each carried on separate


chromsomes (the genes are unlinked).
In this example of Lathyrus odoratus (sweet pea), Key to alleles:
we consider two traits: pea colour and pea surface. Y = yellow
y = green
A rough yellow pea is test crossed to determine its genotype. S = smooth
s = rough

Phenotype:
F0 Rough, yellow

Genotype: ssYy
Punnet Grid: gametes sY sy

F1 Phenotypes:
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

Dihybrid Crosses Consider two traits, each carried on separate


chromsomes (the genes are unlinked).
In this example of Lathyrus odoratus (sweet pea), Key to alleles:
we consider two traits: pea colour and pea surface. Y = yellow
y = green
A rough yellow pea is test crossed to determine its genotype. S = smooth
s = rough

Phenotype:
F0 Rough, yellow

Genotype: ssYy or ssYY


Punnet Grid: gametes sY sy sY sY

F1 Phenotypes:
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

Dihybrid Crosses Consider two traits, each carried on separate


chromsomes (the genes are unlinked).
In this example of Lathyrus odoratus (sweet pea), Key to alleles:
we consider two traits: pea colour and pea surface. Y = yellow
y = green
A rough yellow pea is test crossed to determine its genotype. S = smooth
s = rough

Phenotype:
F0 Rough, yellow

Genotype: ssyy ssYy or ssYY


Punnet Grid: gametes sY sy sY sY
All sy
ive.
F1 Phenotypes:
k nown h om ozygo us re ce ss

th a
e u n kn own wi
t h
test c ross is
A
Rem ember:
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

Dihybrid Crosses Consider two traits, each carried on separate


chromsomes (the genes are unlinked).
In this example of Lathyrus odoratus (sweet pea), Key to alleles:
we consider two traits: pea colour and pea surface. Y = yellow
y = green
A rough yellow pea is test crossed to determine its genotype. S = smooth
s = rough

Phenotype:
F0 Rough, yellow

Genotype: ssyy ssYy or ssYY


Punnet Grid: gametes sY sy sY sY
All sy ssYy ssyy ssYy ssYy

F1 Phenotypes:
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

Dihybrid Crosses Consider two traits, each carried on separate


chromsomes (the genes are unlinked).
In this example of Lathyrus odoratus (sweet pea), Key to alleles:
we consider two traits: pea colour and pea surface. Y = yellow
y = green
A rough yellow pea is test crossed to determine its genotype. S = smooth
s = rough

Phenotype:
F0 Rough, yellow

Genotype: ssyy ssYy or ssYY


Punnet Grid: gametes sY sy sY sY
All sy ssYy ssyy ssYy ssYy

F1 Phenotypes:

Some green peas will be present in No green peas will be present in the
the offspring if the unknown parent offspring if the unknown parent
genotype is ssYy. genotype is ssYY.
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

TASK-Dihybrid Consider two traits, each carried on separate

Crosses chromsomes (the genes are unlinked).


In this example of Lathyrus odoratus (sweet pea), Key to alleles:
we consider two traits: pea colour and pea surface. Y = yellow
y = green
A smooth green pea is test crossed. Deduce the genotype. S = smooth
Smooth green = nine offspring. Rough green = one offspring. s = rough

Phenotype:
F0 Smooth, green

Genotype:
Punnet Grid:

F1 Phenotypes:
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

Dihybrid Crosses Consider two traits, each carried on separate


chromsomes (the genes are unlinked).
In this example of Lathyrus odoratus (sweet pea), Key to alleles:
we consider two traits: pea colour and pea surface. Y = yellow
y = green
A smooth green pea is test crossed. Deduce the genotype. S = smooth
Smooth green = nine offspring. Rough green = one offspring. s = rough

Phenotype:
F0 Smooth, green

Genotype: ssyy
Punnet Grid: gametes

All sy

F1 Phenotypes:
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

Dihybrid Crosses Consider two traits, each carried on separate


chromsomes (the genes are unlinked).
In this example of Lathyrus odoratus (sweet pea), Key to alleles:
we consider two traits: pea colour and pea surface. Y = yellow
y = green
A smooth green pea is test crossed. Deduce the genotype. S = smooth
Smooth green = nine offspring. Rough green = one offspring. s = rough

Phenotype:
F0 Smooth, green

Genotype: ssyy SSyy


Punnet Grid: gametes Sy Sy
All sy Ssyy Ssyy

F1 Phenotypes:
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

Dihybrid Crosses Consider two traits, each carried on separate


chromsomes (the genes are unlinked).
In this example of Lathyrus odoratus (sweet pea), Key to alleles:
we consider two traits: pea colour and pea surface. Y = yellow
y = green
A smooth green pea is test crossed. Deduce the genotype. S = smooth
Smooth green = nine offspring. Rough green = one offspring. s = rough

Phenotype:
F0 Smooth, green

Genotype: ssyy SSyy or Ssyy


Punnet Grid: gametes Sy Sy Sy sy
All sy Ssyy Ssyy Ssyy ssyy

F1 Phenotypes:
10.2.A2 Completion and analysis of Punnett squares for dihybrid traits. AND 10.2.S1 Calculation of the predicted
genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes.

Dihybrid Crosses Consider two traits, each carried on separate


chromsomes (the genes are unlinked).
In this example of Lathyrus odoratus (sweet pea), Key to alleles:
we consider two traits: pea colour and pea surface. Y = yellow
y = green
A smooth green pea is test crossed. Deduce the genotype. S = smooth
Smooth green = nine offspring. Rough green = one offspring. s = rough

Phenotype:
F0 Smooth, green

Genotype: ssyy SSyy or Ssyy


Punnet Grid: gametes Sy Sy Sy sy
All sy Ssyy Ssyy Ssyy ssyy

F1 Phenotypes:
No rough peas will be present in the The presence of rough green peas in the
offspring if the unknown parent offspring means that the unknown genotype
genotype is SSyy. must be Ssyy.
The expected ratio in this cross is 3 smooth green : 1 rough green. This is not the same as the outcome.
Remember that each reproduction event is chance and the sample size is very small. With a much larger
sample size, the outcome would be closer to the expected ratio, simply due to probability.
Some terminology
• Segregation is the separation of alleles of a gene
during meiosis.

• If alleles were not segregated, individuals could


inherit more than two alleles for a gene which could
have disastrous genetic consequences.
TASK

• Using your own knowledge, write a set of guidance


notes for a dihybrid cross for an IGCSE student. You
can create traits, or use one of the examples on
page 447.

• Review someone else’s guidance notes. Do they


cover all the important points?
Linked genes and loci
• Organisms with chromosomes have both autosomal and sex
chromosomes.

• Sex chromosomes are involved in the traits which separate


males and females, but can also be responsible for other
important traits. Traits on the X chromosome are said to be
‘sex-linked’.

• Autosomes are all of the other chromosomes and contain


genes in a predictable order. The place genes are found on
the autosomes and sex chromosomes is the same in all other
organisms of that type and is known as the locus (pl. loci)
TASK
• Draw a diagram representing a homologous pair of
chromosomes and show:
• The locus of an individual gene.
• A pair of alleles.
• Three linked gene pairs (3 pairs of alleles).
Review: 10.1.U7 Independent assortment of genes is due to the random orientation of pairs of homologous
chromosomes in meiosis I.
“The presence of an allele of one of the genes in a gamete has no
Mendel and Meiosis influence over which allele of another gene is present.”

Mendel deduced that characteristics were determined by the interaction


between pairs of alleles long before the details of meiosis were known.

Where Mendel states that pairs of alleles of a gene separate independently


during gamete production, we can now attribute this to random orientation of
chromosomes during metaphase I.
Mendel made this deduction when working with
pea plants. He investigated two separate traits
(colour and shape) and performed many test
crosses, recording the ratios of phenotypes
produced in subsequent generations.

It was rather fortunate that these two traits


happened to be on separate chromosomes
(unlinked genes)! Remember back then he did not
know about the contents of the nucleus.
Chromosomes and DNA were yet to be discovered.

We will use his work as an example of dihybrid


crosses in the next section.

Animation from Sumanas: http://www.sumanasinc.com/webcontent/animations/content/independentassortment.html


Nature of science: 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. (3.1)

Morgan’s experiments (1909 - 1914) with fruit flies Thomas Hunt Morgan developed
produced results that could not be explained by the idea of sex-linked genes
Mendel’s work on heredity as it stood.

10.2.A1 Morgan’s discovery of non-Mendelian


ratios in Drosophila.
The ‘anomalous’ data was repeated and found
to be predictable. The experiments lead Morgan’s key insight came after breeding a
Morgan and his colleagues to revise Mendelian white-eyed male mutant with red eyed
https://www.dnalc.org/view/15005-Thomas-Hun
heredity (1915) to include certain key tenets: female flies:
t-Morgan.html

• Discrete pairs of factors are located on • The 1st generation offspring all had red
chromosomes (later to be called genes) eyes – consistent with Mendelian theory
• Certain characteristics are sex-linked concerning dominant and recessive traits
• Other characteristics are also sometimes • The 2nd generation contained a small
associated number (roughly 25% of flies) with white
eyes – again consistent with Mendalian
theory
• However all the white-eyed flies were
male – this is inconsistent with
Mendalian theory and suggested that
the two traits are linked
https://geneticsandevolutionch10.files.wordpress.com/2015/01/kbtnk9dz-13672096431.jpg?w=672&h=327
Columbia University Fly Room http://www.nature.com/scitable/content/ne0000/ne0000/ne0000/ne0000/122977784/1_2.jpg
10.2.U1 Gene loci are said to be linked if on the same chromosome.

Linked genes
Dumpy wings and Shaven bristles are traits
from gene loci on different chromosomes and
therefore are not linked genes

Chromosome I Drosphila Chromosome Map


is the sex
chromosome
(here X). All
traits on this Curved wings and Brown eyes are traits from gene loci on the same
chromosome chromosomes and therefore are linked genes
are sex-linked
http://www.biologycorner.com/resources/dros_chrom_map.gif
TASK

• Complete the data-based questions from page 452-


453.
Answers
1. coloured, starchy both dominant traits Cc; white, waxy recessive traits
Ss; F1 are all CcSs; so F1 × F1; CcSs × CcSs produces typical dihybrid ratio
of 9 coloured starchy: 3 coloured waxy: 3 white starchy: 1 white waxy in
F2;
2. the actual frequencies do not follow the 9:3:3:1 ratio and so the genes
must be linked as they differ from the theoretical ratio for dihybrid
crosses;
3. coloured, shrunken CCnn; white, non-shrunken ccNN; F1 coloured, non-
shrunken is CcNn are test-crossed with homozygous recessive: ccnn; CcNn
× ccnn; typical ratio of 1 coloured non-shrunken: 1 coloured shrunken: 1
white non-shrunken: 1 white shrunken
4. actual frequencies frequencies differ from typical ratio of 1:1:1:1, so
genes must be linked;
5. if starchy/waxy and non-shrunken/shrunken are both linked to colour,
then they must also be linked to each other;
Statistical testing for associations
F1
• White, large combs: FFcc
• Dark, pea combs: ffCC

Fc Fc Fc Fc
fC FfCc FfCc FfCc FfCc
fC FfCc FfCc FfCc FfCc
fC FfCc FfCc FfCc FfCc
fC FfCc FfCc FfCc FfCc
 The classic Mendelian ratio should
show up when we cross two
heterozygote parents:

F2
• Parents are white with pea combs:
FfCc.
• Offspring should be in the 9:3:3:1
ratio. FC Fc fC fc
FC FFCC FFCc FfCC FfCc
Fc FFCc FFcc FfCc Ffcc
fC FfCC FfCc ffCC ffCc
fc FfCc Ffcc ffCc ffcc
So, are the numbers we have close enough to the
numbers we’d expect?

• Read through the information on page 453-454.

• Any questions?

• Have a go at the data-based questions from page


454.
Calculating chi-square

• As per Mendel’s predicted ratios:


• Most likely phenotype: White and crested (9)
• Middle frequency phenotypes: White and non-
crested (3) & Non-white and crested (3)
• Least likely phenotype: Non-white, non-crested
(1) White
crested
Non-white White non- Non-white Total
crested crested non-
crested

Observed 337 34 46 337 754

Expected (9/16) x (3/16) x (3/16) x (1/16) x 754


754 = 754 = 141.4 754 = 141.4 754 = 47.1
424.1
10.2.S2 Identification of recombinants in crosses involving two linked genes.

Linkage Groups Are carried on the same chromosome and are inherited together.
They do not assort independently.
In sweet peas (Lathyrus odoratus), the genes for flower colour
and pollen grain shape are carried on the same chromosome. Key to alleles:
P = purple p = white
Plants which are heterozygous at both loci are test-crossed. L = long l = short
What ratio of phenotypes is expected?

Image: 'Sweet Pea'


http://www.flickr.com/photos/69166981@N00/3600419425
10.2.S2 Identification of recombinants in crosses involving two linked genes.

Linkage Groups Are carried on the same chromosome and are inherited together.
They do not assort independently.
In sweet peas (Lathyrus odoratus), the genes for flower colour
and pollen grain shape are carried on the same chromosome. Key to alleles:
P = purple p = white
Plants which are heterozygous at both loci are test-crossed. L = long l = short
What ratio of phenotypes is expected?

p l P L
Genotype:
p l p l
Locus 1 Locus 2 Locus 1 Locus 2
Phenotype: White; Short Purple; Long

Punnet Grid:

Phenotypes:

Image: 'Sweet Pea'


http://www.flickr.com/photos/69166981@N00/3600419425
10.2.S2 Identification of recombinants in crosses involving two linked genes.

Linkage Groups Are carried on the same chromosome and are inherited together.
They do not assort independently.
In sweet peas (Lathyrus odoratus), the genes for flower colour
and pollen grain shape are carried on the same chromosome. Key to alleles:
P = purple p = white
Plants which are heterozygous at both loci are test-crossed. L = long l = short
What ratio of phenotypes is expected?

p l P L
Genotype:
p l p l
Locus 1 Locus 2 Locus 1 Locus 2
Phenotype: White; Short Purple; Long

Punnet Grid: Possible


Gametes PL pl
All pl

Phenotypes:

Image: 'Sweet Pea'


http://www.flickr.com/photos/69166981@N00/3600419425
10.2.S2 Identification of recombinants in crosses involving two linked genes.

Linkage Groups Are carried on the same chromosome and are inherited together.
They do not assort independently.
In sweet peas (Lathyrus odoratus), the genes for flower colour
and pollen grain shape are carried on the same chromosome. Key to alleles:
P = purple p = white
Plants which are heterozygous at both loci are test-crossed. L = long l = short
What ratio of phenotypes is expected?

p l P L
Genotype:
p l p l
Locus 1 Locus 2 Locus 1 Locus 2
Phenotype: White; Short Purple; Long

Punnet Grid: Possible


Gametes PL pl
All pl PpLl ppll
Purple; Long White; Short
Phenotypes:
Ratio: 1 : 1

Image: 'Sweet Pea'


http://www.flickr.com/photos/69166981@N00/3600419425
10.2.S2 Identification of recombinants in crosses involving two linked genes.

Linkage Groups Are carried on the same chromosome and are inherited together.
They do not assort independently.
In sweet peas (Lathyrus odoratus), the genes for flower colour
and pollen grain shape are carried on the same chromosome. Key to alleles:
P = purple p = white
Plants which are heterozygous at both loci are test-crossed. L = long l = short
What ratio of phenotypes is expected?

p l P L
Genotype:
p l p l
Locus 1 Locus 2 Locus 1 Locus 2
Phenotype: White; Short Purple; Long

Punnet Grid: Possible


Gametes PL pl
All pl PpLl ppll
Purple; Long White; Short
Phenotypes:
Ratio: 1 : 1

Image: 'Sweet Pea'


http://www.flickr.com/photos/69166981@N00/3600419425
10.2.S2 Identification of recombinants in crosses involving two linked genes.

Linkage Groups Are carried on the same chromosome and are inherited together.
They do not assort independently.
In sweet peas (Lathyrus odoratus), the genes for flower colour
and pollen grain shape are carried on the same chromosome. Key to alleles:
P = purple p = white
Plants which are heterozygous at both loci are test-crossed. L = long l = short
A small number of purple;short and white;long individuals have
appeared in the offspring. Explain what has happened.

Image: 'Sweet Pea'


http://www.flickr.com/photos/69166981@N00/3600419425
10.2.S2 Identification of recombinants in crosses involving two linked genes.

Recombination of alleles occurs as a result of crossing-over between non-sister


chromatids. Exchange of alleles gives new genotypes of gametes.
Plants which are heterozygous at both loci are test-crossed. Key to alleles:
A small number of purple;short and white;long individuals P = purple p = white
L = long l = short
have appeared in the offspring. Explain what has happened.

The test cross individual is homozygous Possible gametes:


recessive at both loci, so only one type of Test individual:
gamete is produced. p l

Alleles segregate in meiosis, Heterozygous individual:


giving two possible gametes:
P L
P L
p l
p l

Diploid cell
Heterozygous at both loci
Chromosomes replicate
in Synthesis phase
10.2.S2 Identification of recombinants in crosses involving two linked genes.

Recombination of alleles occurs as a result of crossing-over between non-sister


chromatids. Exchange of alleles gives new genotypes of gametes.
Plants which are heterozygous at both loci are test-crossed. Key to alleles:
A small number of purple;short and white;long individuals P = purple p = white
L = long l = short
have appeared in the offspring. Explain what has happened.

Possible gametes:
Test individual:
p l

Heterozygous individual:

P L

p l

Recombinants:
Diploid cell
Heterozygous at both loci Crossing Over Sister chromatids are P l
Chromosomes replicate Prophase I separated in anaphase II.
in Synthesis phase Alleles are exchanged Recombined gametes are
produced. p L
Crossing-over occurs occasionally. It is more likely to happen
between linked genes which are further apart.
10.2.S2 Identification of recombinants in crosses involving two linked genes.

Recombination of alleles occurs as a result of crossing-over between non-sister


chromatids. Exchange of alleles gives new genotypes of gametes.
Plants which are heterozygous at both loci are test-crossed. Key to alleles:
A small number of purple;short and white;long individuals P = purple p = white
L = long l = short
have appeared in the offspring. Explain what has happened.

Normal gametes Possible gametes:


(majority) Test individual:
p l
Possible
Gametes P L p l Heterozygous individual:

All p l PpLl ppll P L

Purple; long White, short p l

Recombinants:

P l

p L
Crossing-over occurs occasionally. It is more likely to happen
between linked genes which are further apart.
10.2.S2 Identification of recombinants in crosses involving two linked genes.

Recombination of alleles occurs as a result of crossing-over between non-sister


chromatids. Exchange of alleles gives new genotypes of gametes.
Plants which are heterozygous at both loci are test-crossed. Key to alleles:
A small number of purple;short and white;long individuals P = purple p = white
L = long l = short
have appeared in the offspring. Explain what has happened.

Normal gametes Recombinant gametes Possible gametes:


(majority) (small number) Test individual:
p l
Possible
Gametes P L p l P l p L Heterozygous individual:

All p l PpLl ppll Ppll ppLl P L

Purple; long White, short Purple; short White, long p l

Recombinants:

P l

p L
Crossing-over occurs occasionally. It is more likely to happen
between linked genes which are further apart.
Review: 10.1.U3 Crossing over produces new combinations of alleles on the chromosomes of the haploid cells.
Increases genetic variation through
Crossing-Over recombination of linked alleles.

Crossing over leads to more variation in gametes.

This is the standard notation for writing genotypes of alleles on linked


genes (more of this later when we study 10.2 Inheritance AHL)
Edited from: http://www.slideshare.net/gurustip/meiosis-ahl
10.2.S2 Identification of recombinants in crosses involving two linked genes.

Gene Linkage & Recombination


The genes for kernel colour and waxiness are linked in the corn plant Key to alleles:
(Zea mays). In a cross between a plant that is homozygous C = coloured c = no colour
dominant at both loci with a plant that is heterozygous at both loci, W = waxy w = not waxy
identify the following genotypes as:
a: regular b:recombinants c: impossible

CcWw CCWw CcWW CCWW CCww ccWW


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

Gene Linkage & Recombination


E m
Two genes are linked as shown here
e M
The genes are far apart such that crossing-over between the alleles occurs
occasionally. Which statement is true of the gametes?
A. All of the gametes will be Em and eM
B. There will be equal numbers of EM, EM, eM and em
C. There will be approximately equal numbers of EM and eM gametes
D. There will be more Em gametes than em gametes
10.2.S2 Identification of recombinants in crosses involving two linked genes.

Gene Linkage & Recombination


E m
Two genes are linked as shown here
e M
The genes are far apart such that crossing-over between the alleles occurs
occasionally. Which statement is true of the gametes?
A. All of the gametes will be Em and eM
B. There will be equal numbers of EM, EM, eM and em
C. There will be approximately equal numbers of EM and eM gametes
D. There will be more Em gametes than em gametes

E m E M
e M e m

Regular gametes Recombinant gametes


(majority) (small number)

E m e M E M e m
Discrete variation
• If traits are influenced by a single gene, then
variants of that gene will give definite changes in
phenotype.

• For example, imagine a fictional coat colour gene in


guinea pigs.

• If the gene can have alleles for brown, black, white


or tan, the resulting offspring will be either brown,
black, white or tan.
Continuous variation

• However, if traits are controlled by more than one gene, then the
influence of multiple genes will often give the appearance of a much
more gradual difference between organisms.

• For example, imagine our same guinea pigs now have two coat colour
genes, one with alleles for black or white, one with alleles for brown or
tan.

• If these alleles were codominant, we could end up with brown, black,


white or tan guinea pigs.

• We could also end up with grey, light brown, dark tan etc...

• On a scale, these guinea pigs would appear to have traits which fall on
a spectrum, rather than discretely.
Environmental influences
• Due to the graduated differences in polygenic inheritance,
environmental factors often play a role in smoothing the outliers.

• Skin colour and height are good examples of this and we can show
how these traits often show up in a continuous form where it is
impossible to put people into discrete groups.
10.2.U3 Variation can be discrete or continuous. AND 10.2.U4 The phenotypes of polygenic characteristics
tend to show continuous variation.
A single characteristic
Polygenic Inheritance controlled by multiple genes.
Polygenic inheritance gives rise to continuous variation in the phenotype.

Use these two


examples in the exam.

Human Skin Colour Wheat kernel colour

Other examples:
• Susceptibility* to heart disease, certain types of cancer, mental illnesses.

• The Autism Spectrum.


Autism is a pervasive developmental disorder that
presents on a scale (known as the Childhood Autism
Rating Scale). It is not as clearly polygenic as the
above examples - it is suspected that gene interactions *susceptibility is not deterministic, but it is beneficial
and environmental factors play a large role. to know if you are at elevated genetic risk of these
illnesses.
10.2.U3 Variation can be discrete or continuous. AND 10.2.U4 The phenotypes of polygenic characteristics
tend to show continuous variation.

Polygenic Inheritance of Skin Colour


Example: 2 genes (A and B), 2 alleles each
Assume: genes are not linked (separate chromosomes)

In polygenics, alleles can be: Key to alleles:


• Contributing (they add to the phenotype) A = add melanin
• Non-contributing (they do not add to the phenotype) a = don’t add melanin
B = add melanin
How many genotypes are possible? b = don’t add melanin
10.2.U3 Variation can be discrete or continuous. AND 10.2.U4 The phenotypes of polygenic characteristics
tend to show continuous variation.

Polygenic Inheritance of Skin Colour


Example: 2 genes (A and B), 2 alleles each
Assume: genes are not linked (separate chromosomes)

In polygenics, alleles can be: Key to alleles:


• Contributing (they add to the phenotype) A = add melanin
• Non-contributing (they do not add to the phenotype) a = don’t add melanin
B = add melanin
How many genotypes are possible? b = don’t add melanin

Remember that alleles


segregate during meiosis.

Alleles of unlinked
o o o chromosomes orient
r r r randomly.

There is also random


fertilisation of gametes.

So many combinations!
gametes
10.2.U3 Variation can be discrete or continuous. AND 10.2.U4 The phenotypes of polygenic characteristics
tend to show continuous variation.

Polygenic Inheritance of Skin Colour


Example: 2 genes (A and B), 2 alleles each
Assume: genes are not linked (separate chromosomes)

In polygenics, alleles can be: Key to alleles:


• Contributing (they add to the phenotype) A = add melanin
• Non-contributing (they do not add to the phenotype) a = don’t add melanin
B = add melanin
How many genotypes are possible? b = don’t add melanin

Nine:

Notice that the possible


combinations of genotypes gives
rise to continuous variation in the
phenotype.

This population follows a normal


distribution.
10.2.A3 Polygenic traits such as human height may also be influenced by environmental factors.

environmental factors

Most traits, including polygenetic traits such as height,


maybe influenced by the environment of the organism.
There are numerous ways in which this can happen.

Human Trait Influencing Environment factors

Height • Dietary factors (e.g. protein content)


• Certain childhood diseases

• Exposure to sun
Skin colour • Burns
• Scaring

http://www.bu.edu/today/files/2011/11/t_11-4313-VIETNAMVET-036.jpg
Polygenic Inheritance of Skin Colour
Is it possible for twins to be:
a. Different colours?
Key to alleles:
A = add melanin
a = don’t add melanin
B = add melanin
b = don’t add melanin

Extension: the next few


slides ask interesting
questions, but they go
beyond the syllabus.
However if you can answer
the questions you can be
confident that you have
mastered polygenetic
inheritance
Polygenic Inheritance of Skin Colour
Is it possible for twins to be:
a. Different colours?
YES. Key to alleles:
As long as they are non-identical twins. Two eggs A = add melanin
a = don’t add melanin
will have been fertilised by individual sperm cells. B = add melanin
b = don’t add melanin
Each gamete carries a
different combination of
alleles, so it is possible that
the twins have noticeably
differently-coloured skin.

Couple has differently-coloured twins – for the second time! From Associated Press
http://www.youtube.com/watch?v=KgfObCmWJt4
Polygenic Inheritance of Skin Colour
Is it possible for twins to be:
b. Lighter or darker than both parents?
Key to alleles:
A = add melanin
a = don’t add melanin
B = add melanin
F0 Phenotype: b = don’t add melanin

Genotype: AaBb AABb


Punnet Grid: gametes AB AB Ab Ab
AB
Ab
aB
ab

F1 Genotypes:
Phenotypes:
Polygenic Inheritance of Skin Colour
Is it possible for twins to be:
b. Lighter or darker than both parents?
YES. Key to alleles:
A = add melanin
a = don’t add melanin
B = add melanin
F0 Phenotype: b = don’t add melanin

Genotype: AaBb AABb


Punnet Grid: gametes AB AB Ab Ab
darker
AB AABB AABB AABb AABb
Ab AABb AABb AAbb AAbb
aB AaBB AaBB AaBb AaBb
lighter
ab AaBb AaBb Aabb Aabb

F1 Genotypes:
Phenotypes:
Homework
• An assignment is sent via kognity also the date is mentioned
in your managebac calendar.
• Read through all the sections of 10.2 Kognity and complete
the section questions.

• Complete the 10.2 worksheet based on IB questions write


on onenote
• Revise the ppt and all other relevent resources,book pdf,
links (example:- Bioninja,bioknowledgy)suggested to you.
Look at the collaboration space.

• Complete the 10.2 self evaluation sheet on your one note

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