A2

Biology 9700 Chapter O - Inheritance Peter Ting

Introduction: Gregory Mendel was a member of the Augustinian monastery

in Brunn, Austria. His ambition was to be a teacher but repeatedly failed the
necessary examinations and had to content himself with a job as substitute
science teacher at the main school in Brunn. He had always been interested in
the problem of heredity and this led him to carry out breeding experiments on
plants. As the subject for his research he chose the garden pea, which has a
number of sharply contrasting and easily recognizable characteristics: for
example; long and short stem, red and white flowers, smooth and wrinkled
seeds. With such clear-cut differences it is possible to cross or self-pollinate
certain plants and examine the characteristics of their offspring. Starting in
about 1856, Mendel carried out vast number of experiments in the garden of his
monastery. The conclusions he drew forms the basis or foundations on which the
study of heredity is built.

This chapter introduces the concept of inheritance. It is the theory of how one
trait/phenotype can be successfully passed on to the next generation. One must
fully understand that between a parent and their offspring, there is remarkable
similarity and yet it is no less noticeable that they also differ from each other in
many respects. The science of heredity/inheritance attempts to explain both
similarities and differences between parents and offspring.

(a) [PA] describe, with the aid of diagrams, the behaviour of chromosomes during
meiosis, and the associated behaviour of the nuclear envelope, cell membrane and
centrioles (names of the main stages are expected, but not the sub-divisions of
prophase);

Key idea In the topic of inheritance, there is this notion of variation. What is
variation? Why must there be variation? Where can we see/observe variation?

Variation can be explained by understanding that genes control the traits, being
different in many organisms. How is it being different?

Fertilization: New life begins at fertilization, when the sperm and egg combine
their genetic material. Genetic material is located in the nucleus, where every
gamete (reproductive cells of male and female) is unique and different. The
process meiosis explains the uniqueness and the blueprint of genomic content,
which is the reason why individuals are with varying shape, sizes and other
observable characteristics.

Meiosis involves two divisions: meiosis I and meiosis II.

Meiosis I results in two daughter nuclei with half the number of
chromosomes of the parent nucleus. This is reduction division.
Meiosis II results in the chromosome behave as in mitosis (each of the
two haploid daughter nuclei divides again)

Own notes:

Peter Ting 11/28/12 5:57 PM

Comment [1]: Trait/Phenotype =
observable characteristics.

Peter Ting 11/28/12 6:01 PM

Comment [2]: Very often, the notion of
variation can be seen as intraspecific
variation or interspecific variation.
Nevertheless, variation describes the
observable differences in traits between 2
organisms.
Peter Ting 11/28/12 6:06 PM
Comment [3]: What is a gene?

Peter Ting 11/28/12 6:28 PM

Comment [4]: This is a term you must be
familiar with. Reduction division describes
the result of the cell division which
produces a daughter cell that has half of the
chromosome number compared to the
parental cell.

A2 Biology 9700 Chapter O - Inheritance Peter Ting

Peter Ting 11/29/12 12:17 AM
Comment [5]: 9700/41/OctNov/2010
Q9a [9] Outline the behavior of
chromosomes during meiosis.

Prophase 1
1 idea of condensation of chromosomes ;
2 homologous chromosomes pair up / bivalent
formed ;
3 chiasmata / described ;
4 crossing over / described ;
Metaphase 1
5 homologous chromosomes / bivalents, line
up on equator ;
6 independent assortment / described ;
7 ref to spindle ;
8 role of centromeres ;
Anaphase 1
9 chromosomes move to poles ;
10 homologous chromosomes / bivalents,
separate ;
11 pulled by microtubules ;
Telophase 1
12 reduction division ;

The stages of meiosis

(b) explain how meiosis and fertilisation can lead to variation;

During normal cell growth, mitosis produces daughter cells identical to
parent cell (2n to 2n). Meiosis results in genetic variation by shuffling of
maternal and paternal chromosomes and crossing over.

Own notes:

Metaphase 2
13 chromosomes line up on equator ;
14 of spindle ;
Anaphase 2
15 centromeres divide ;
16 chromatids move to poles ;
17 pulled by microtubules ;
18 ref. haploid number ;
Telophase 2
19 Meiosis results in total of FOUR total
haploid cells.

Peter Ting 12/10/12 1:35 PM

Comment [6]: Crossing over allows
genetic material to be exchanged between
bivalents (non-sister chromatid). There will
be new variation of chromatids within the
pair.

A2 Biology 9700 Chapter O - Inheritance Peter Ting

No daughter cells formed during meiosis are genetically identical to either
mother or father. There are reasons why that happen. During sexual
reproduction, fusion of the unique haploid gametes produces truly unique
offspring.

The two events that take place during meiosis which help to produce genetic
variation between daughter cells are:

Crossing over, which happens between chromatids of homologous
chromosomes
in prophase I
chiasma / crossing over
between non-sister chromatids
homologous chromosomes / bivalents
exchange of genetic material
linkage groups broken
new combination of alleles

Independent assortment of the homologous chromosomes
in metaphase I
bivalents are arranged randomly on the equator
(c) explain the terms locus, allele, dominant, recessive, codominant, homozygous,
heterozygous, phenotype and genotype;

Glossary of terms

Term
Definition
Genotype:
the alleles of an organism.
Phenotype:
the observable characteristics of an organism.
Allele:
alternative form of a gene.
Dominant allele:
an allele that has the same effect on the phenotype

whether it is present in the homozygous or
heterozygous state.
Recessive allele:
an allele that only has an effect on the phenotype when
present in the homozygous state.
Codominant alleles:
pairs of alleles that both affect the phenotype and is

expressed when present in a heterozygote.
Locus:
the particular position on homologous chromosomes

of a gene.
Homozygous:
having two identical alleles of a gene.

Heterozygous:
having two different alleles of a gene.


Own Notes

Peter Ting 11/29/12 12:49 PM

Comment [7]: 9700/42/MayJune/2011
Q7(b) [5].

Peter Ting 12/10/12 1:36 PM

Comment [8]: Due to the random
alignment, there is possibility to create
gametes with unique combinations of
chromosomes. This means that, e.g. for 2
homologous chromosomes present, the
combination of different gametes/haploids
that will be produced is 4. This follow the
rule 2n, where n = number of homologous
chromosomes.

A2 Biology 9700 Chapter O - Inheritance Peter Ting

Carrier:

Test cross:

an individual that has one copy of a

recessive allele that causes a genetic
disease in individuals that are
homozygous for this allele.
testing a suspected heterozygote by
crossing it with a known homozygous
recessive.

(d) (i) use genetic diagrams to solve problems involving monohybrid cross -
single pair allele inheritance.

Key Points: In each locus within the homologous chromosomes, lies a set of
genes that codes a character/trait. The combination of these genes, called the
genotype will control what the phenotype will be. These genes, which are two of
them, occupy the locus within the homologous chromosomes. Together the
genes will be expressed and one final phenotype will arise. In this form of
inheritance, there are specifically TWO forms of the genes, which are now called
alleles. One can have homozygous or heterozygous of those alleles, depending on
what is available.

The fruit fly, Drosophila melanogaster, feeds on sugars found in damaged fruits.
A fly with normal features is called a wild type. It has a striped body and its
wings are longer than its abdomen. There are mutant variations such as an
ebony coloured body or vestigial wings. These three types of fly are shown in
figure below

Peter Ting 11/29/12 3:26 PM
Comment [9]: Two wild type fruit flies
were crossed. Each had alleles A and B and
carried alleles for ebony body and vestigial
wings.

wild type ebony body vestigial wing

There are two phenotypes in the fruit fly, body and wings. Wild type fly has
striped body, allele A and longer wings, allele B. But there were other variations
around, namely ebony body, allele a and vestigial wing, allele b. This is a clear
example of single pair allele inheritance. For every characteristics or traits, there
is a pair of alleles associated with it. No more, no less.

(d) (ii) use genetic diagrams to solve problems involving monohybrid cross
multiple allele inheritance

Key Points: In some cases, there are variety forms of genes for a particular trait
that exists in the gene pool. You can have blue, green, and brown for eye color
but you can only have two alleles.

Own Notes

Draw a genetic diagram to show the possible

offspring of this cross
Parental genotype: AaBb
Gametes :

AaBb

AB Ab aB ab (circle)

Offspring genotypes: punnet square

Offspring genotype : linked with genotype.

Peter Ting 11/29/12 7:08 PM

Comment [10]: In a homologous
chromosomes, ONLY two alleles can occupy,
one for each loci.

A2 Biology 9700 Chapter O - Inheritance Peter Ting

What causes the gene pool to have so many alleles swimming around? Variation,
as it is the key to complexity in characters and traits that we see everyday
around us.

An example of this is the human blood groups. A single gene determines all the
four blood groups A, B, AB and O. The alleles of these genes are IA, IB and IO.
Alleles IA and IB are codominant and IO is recessive to both.

Peter Ting 11/30/12 9:21 AM

Comment [11]: Do you still remember
what codominant and recessive are about?

a) The inheritance of trypsin inhibitors in soybeans is an example of multiple
allele inheritance. Compare how it is different with single pair allele inheritance?

b) Give all possible genotype of a plant which only contains inhibitor A?

c) Give all possible genotypes of the gametes produced by a plant that contains
inhibitors B and C?

d) Two soybean plants were crossed and the seeds collected and counted. The
results are shown in the table.

i)

Draw a genetic diagram to explain the results of this cross.

(d) (iii) use genetic diagrams to solve problems involving monohybrid cross
sex linked inheritance

Key points: In humans, the chromosomes responsible to determine sex or sexual
characteristics are appropriately known as the sex chromosome. Drosophila is
used to illustrate how alleles on sex chromosomes are inherited in predictable

Own notes

Peter Ting 11/30/12 9:26 AM

Comment [12]:








Peter Ting 11/30/12 9:28 AM
Comment [13]:

Peter Ting 11/30/12 9:29 AM
Comment [14]:

Peter Ting 11/30/12 9:31 AM
Comment [15]:

A2 Biology 9700 Chapter O - Inheritance Peter Ting

patterns. For example, in Drosophila the locus for eye color is located on the X
chromosome. The allele for red eye color, which is normal in wild flies, is
dominant to the mutant allele for white eyes.
As females have two chromosomes X (with a locus for eye color), they might be
homozygous or heterozygous for either allele. Males, who carry only one X
chromosome, are always hemizygous. They carry only the one X chromosome
inherited from their mother, and it determines their eye color.
In the left hand example, homozygous red eyed females (RR) mate with
hemizygous white eyed males (w-). In the offspring, all the daughters are red
eyed heterozygotes (Rw) and all sons are red eyed hemizygotes (R-). In the
right hand, homozygous white eyed females (ww) mate with hemizygous red
eyed males (R-). In the offspring, all the daughters are red eyed heterozygotes
(Rw) and all sons are white eyed hemizygotes (w-).

Peter Ting 11/30/12 10:02 AM

Comment [16]: Do you know that sex
chromosomes may not necessarily be
homologous? Look at X and Y, they do not
have the same length, in fact they are quite
significantly different in terms of length.

Q In your opinion, would the sex
chromosomes pair up during meiosis?

Food for thought: The human Y
chromosome has lost 1,393 of its 1,438
original genes over the course of its
existence.
Peter Ting 11/30/12 10:03 AM
Comment [17]: You have heard of
heterozygous and homozygous. Hemizygous
describes an individual who has only one
member of a chromosome pair or
chromosome segment rather than the usual
two.

Sex linkage If an allele for a gene is only on the X chromosome, then females
will have two copies while men will only have one. In addition to their role in
determining sex, this chromosome has genes for many characters; these are
called sex-linked genes. Fathers can pass their sex-linked alleles to their
daughters but not their sons. Mothers can pass their sex-linked alleles to both
sons and daughters.

Own notes

A2 Biology 9700 Chapter O - Inheritance Peter Ting

E.g. Red green color 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.

Parental

Phenotypes Carrier Female x Normal Male

Genotypes XNXn XNY


Gametes

XN Xn XN Y Circle all

Offspring 1

Genotypes


Female gamete


XN
Xn
N
N
N
Males gamete
X
X X
XnXn
Y
N
X Y
XnY

X-chromosome inactivation

Key points: Human females inherit two copies of every gene on the X
chromosome, whereas males inherit only one. But for the hundreds of other
genes on the X, are males at a disadvantage in the amount of gene product their
cells produce? The answer is no, because females have only a single active X
chromosome in each cell.

During interphase, chromosomes are too tenuous to be stained and seen by light
microscopy. However, a dense, stainable structure, called a Barr body (after its
discoverer) is seen in the interphase nuclei of female mammals. The Barr body is
one of the X chromosomes. Its compact appearance reflects its inactivity. So, the
cells of females have only one functioning copy of each X-linked gene the same
as males.

X-chromosome inactivation (XCI) occurs early in embryonic development. In a
given cell, which of a female's X chromosomes becomes inactivated and
converted into a Barr body is a matter of chance. After inactivation has occurred,
all the descendants of that cell will have the same chromosome inactivated. Thus
X-chromosome inactivation creates clones with differing effective gene content.

Own notes

Peter Ting 11/30/12 11:24 PM

Comment [18]: The pseudoautosomal
regions get their name because any genes
located within them (so far only 9 have been
found) are inherited just like any autosomal
genes. Males have two copies of these genes:
one in the pseudoautosomal region of their Y,
the other in the corresponding portion of their
X chromosome. So males can inherit an allele
originally present on the X chromosome of
their father and females can inherit an allele
originally present on the Y chromosome of
their father.
Crossing over occurs in two regions of pairing,
called the pseudoautosomal regions.

A2 Biology 9700 Chapter O - Inheritance Peter Ting

E.g. Tortoiseshell fur coat in female cats

In cats, the fur pigmentation gene is X-linked, and depending on which copy of
the X chromosome each cell chooses to leave active, either an orange or black
coat color results. X inactivation only occurs in cells with 2 X chromosomes,
which explains why almost all tortoiseshell cats are female.

i)
ii)

What is the genotype of a tortoiseshell cat?

Explain why there is no male tortoiseshell cat?

(d) use genetic diagrams to solve problems involving monohybrid cross
codominance inheritance

Key points: Have you wondered what determines your blood group? At the
beginning of the 20th century an Austrian scientist, Karl Landsteiner, noted that
the serum from other individuals agglutinated the RBCs of some individuals. He
made a note of the patterns of agglutination and showed that blood could be
divided into groups. This marked the discovery of the first blood group system,
ABO, and earned Landsteiner a Nobel Prize..

Peter Ting 11/30/12 11:41 PM

Comment [19]: Ans :

Peter Ting 11/30/12 11:41 PM
Comment [20]: Ans :

Peter Ting 12/1/12 4:19 PM

Comment [21]: What is the
characteristics of an offspring showing co-
dominance? Use the example of ABO blood
group to describe your answer

Own notes

A2 Biology 9700 Chapter O - Inheritance Peter Ting

(d) use genetic diagrams to solve problems involving monohybrid cross
multiple gene inheritance

Key points: The garden peas studied by Gregor Mendel involved pairs of alleles
with only three possible genotypes and two phenotypes per trait. For example,
the gene for round pea (R) is dominant over the gene for wrinkled pea (r) and
only three genotypes are possible: RR, Rr and rr. These three genotypes produce
only two phenotypes: Round (RR and Rr) and wrinkled (rr). There are no
intermediate traits between round and wrinkled. If all human characteristics
were controlled by simple pairs of dominant and recessive alleles like the one
Mendel studied, we would have tall and short people with no intermediates.

Therefore for some traits, especially with ones involved polygenic
inheritance/multiple gene inheritance, there is a secondary gene that controls a
trait.

Human skin color is a good example of polygenic (multiple gene) inheritance.
Assume that three "dominant" capital letter genes (A, B and C) control dark
pigmentation because more melanin is produced. The "recessive"alleles of these
three genes (a, b & c) control light pigmentation because lower amounts of
melanin are produced. The words dominant and recessive are placed in
quotation marks because these pairs of alleles are not truly dominant and
recessive as in some of the garden pea traits that Gregor Mendel studied. A
genotype with all "dominant" capital genes (AABBCC) has the maximum amount
of melanin and very dark skin. A genotype with all "recessive" small case genes
(aabbcc) has the lowest amount of melanin and very light skin. Each "dominant"
capital gene produces one unit of color, so that a wide range of intermediate skin
colors are produced, depending on the number of "dominant" capital genes in
the genotype. For example, a genotype with three "dominant" capital genes and
three small case "recessive" genes (AaBbCc) has a medium amount of melanin
and an intermediate skin color

Q:
A gene for feather colour in chickens is carried on an autosome. This gene
has two alleles, black (CB) and splashed-white (CW). When a male chicken with
black feathers is mated with a female chicken with splashed-white feathers, all
the offspring have blue feathers. This also occurs when a male chicken with
splashed-white feathers is crossed with a female with black feathers.

Another gene may cause stripes on feathers (barred feathers). This gene is
carried on the X chromosome. The allele for barred feathers (XA) is dominant to
the allele for nonbarred feathers (Xa).

In chickens the male is homogametic and has two X chromosomes while the
female is heterogametic and has one X chromosome and one Y chromosome.


Own notes

A2 Biology 9700 Chapter O - Inheritance Peter Ting

A male chicken with black, non-barred feathers was crossed with a female
chicken with splashed-white, barred feathers. All the offspring had blue feathers,
but the males were barred and the females were non-barred.

Q:
Draw a genetic diagram to explain this cross.

(d) use genetic diagrams to solve problems involving dihybrid cross

Key points: A dihybrid cross is a breeding experiment between parental
generation organisms that differ in two traits.

(e) use genetic diagrams to solve problems involving test crosses.

Key points: The test cross is another one of the fundamental tools devised by
Gregor Mendel. In its simplest form this is an experimental cross of an individual
organism of dominant phenotype but unknown genotype to an organism with
a homozygous recessive genotype (and phenotype).

Q:
A gene for feather colour in chickens is carried on an autosome. This gene
has two alleles, black (CB) and splashed-white (CW). When a male chicken with
black feathers is mated with a female chicken with splashed-white feathers, all
the offspring have blue feathers. This also occurs when a male chicken with
splashed-white feathers is crossed with a female with black feathers.

Another gene may cause stripes on feathers (barred feathers). This gene is
carried on the X chromosome. The allele for barred feathers (XA) is dominant to
the allele for nonbarred feathers (Xa).

In chickens the male is homogametic and has two X chromosomes while the
female is heterogametic and has one X chromosome and one Y chromosome.

A male chicken with black, non-barred feathers was crossed with a female
chicken with splashed-white, barred feathers. All the offspring had blue feathers,
but the males were barred and the females were non-barred.

Q:
Explain how a farmer could use a breeding programme to find out the
genotype of a male chicken with blue, barred feathers

Own notes

10

Peter Ting 12/2/12 8:27 AM

Comment [22]:
























Peter Ting 12/1/12 5:39 PM
Comment [23]: Pure breeding organism
describes that the trait possessed came
from alleles which are homozygous.

A2 Biology 9700 Chapter O - Inheritance Peter Ting

(f) [PA] use the chi-squared test to test the significance of differences between
observed and expected results

Key points: The difference between an experiment and real life is that an
experiment tries to reproduce the real life while actually the real life cannot be
completely mimicked at all, even if you try as hard as you may.

E.g. If you are experimenting on a subject, the results you get by repeating the
experiment over and over again are not going to be the same. Therere bound to
be differences, which could mean little or big. How far would you accept
differences? A statistical test allows us to accept or reject the differences,
depending on the results of the experiment and criteria of the test. If the
difference is not large or significant, then the null hypothesis will be accepted.
However, to accept a hypothesis does not mean that it is true, only that we do not
have evidence to believe otherwise.

There are many statistical test being used, however there are two which we will
particularly study in the syllabus. There are the chi-squared test and the t-test.
Knowing the function of each test is important because we cannot simply employ
a test that is not meant for certain data. The requirements to use each test are as
follows;

Chi-Squared Test
When data acquired is discontinuous/categorical/discreet
When the results involve an expected number and observed number
T-Test
When data acquired is continuous/normal
When the results involve means between TWO groups

Chi-Squared Test

As part of an investigation into the foraging habits of bees (Bombus monticola),
the number of visits made to two types of plant, Vaccinium vitis-idaea and Erica
tetralix, were recorded in the table below; these numbers are called the observed
frequencies (O).

The researchers wished to test for a significant difference in the number of visits
to the two plants, i.e. whether Bombus monticola has a feeding preference.

Step 1: State your null hypothesis, H0
Null hypothesis: There will be no difference in the number of visits to
each type of plant.
Own notes

11

Peter Ting 12/2/12 12:38 AM

Comment [24]: You know what is a
hypothesis is right?

A null hypothesis describes how it behaves
positively towards the differences in the
results of the experiment. Means to say that
there is no big difference at all, despite how
big or small. Usually we doubt this to be
true, which is why we carry out the
statistical test. If proven true that NH cant
be used, then we will believe in the
alternative hypothesis instead.

A2 Biology 9700 Chapter O - Inheritance Peter Ting

Step 2: Calculate the expected frequencies,

Step 3: Calculate the differences between the observed frequencies (O) and
expected frequencies (E)

Step 4: Square the differences , and divide each square by the corresponding
expected frequency, E

Step 5: Calculate the test value

Therefore 2.29 + 2.29 = 4.58

Step 6: Calculate the number of degrees of freedom, df using the formula below

D.O.F = (number of columns) 1 = 2 1 = 1

Use the table below, to find the critical value, corresponding to 1 degree of
freedom and 5% level of significance.
REMINDER: Please use 5% significance level if the question doesnt indicate you
to do otherwise.

Peter Ting 12/2/12 1:37 AM

Comment [26]:
The significance level, defines the sensitivity
of the test. A value of = 0.05 means that we
inadvertently reject the null hypothesis 5%
of the time when it is in fact true. This is
also called the type I error. The choice of
significance level is somewhat arbitrary,
although in practice values of 0.1, 0.05, and
0.01 are commonly used.

Own notes

Peter Ting 12/2/12 1:42 AM

Comment [25]:
The critical region encompasses those
values of the test statistic that lead to a
rejection of the null hypothesis. Based on
the distribution of the test statistic and the
significance level, a cut-off value for the test
statistic is computed. Values either above or
below or both (depending on the direction
of the test) this cut-off define the critical
region.

12

A2 Biology 9700 Chapter O - Inheritance Peter Ting

Critical value = 3.84

Step 7: Reject the null hypothesis and accept the alternative hypothesis if the test
value, 2 is greater than the critical value.

Step 8: State the smallest level of significance for which the null hypothesis is
rejected.
Null Hypothesis is rejected. The difference did not occur by chance for P
< 0.05

If null hypothesis is accepted;
Null Hypothesis is accepted. The difference did occur by chance for P >
0.05

If 2 is big/large, means that the P(O = E) becomes smaller, likewise if
2 = 0, means that the O = E, probability of Observed approaching Expected is 1,
P(O = E) = 1. The graph tells us where is the cut-off point where we allow our
data to deviate from the expected. The cut off point is saying, this is only where
the observed is allowed to spread away from the expected. Beyond that point, I
reject the null hypothesis. Which is why, when the 2 is falls in the area of
rejection (more than critical value), means that the observed has already spread
so much from the expected value that I can no longer accept its difference. That
would also mean the P(O=E) drops significantly too, so it falls below 0.05, P <
0.05, Null hypothesis is then rejected. The differences are not due by chance. And

Own notes

13

A2 Biology 9700 Chapter O - Inheritance Peter Ting

if the 2 value falls in the area of acceptance (smaller than critical value), means
that the observed has spread from the expected value within the level that you
may ignore its difference. That would mean that the P(O=E) is high, higher than
0.05, P > 0.05. Null hypothesis is then accepted. The differences are due by
chance.

(h) explain, with examples, how the environment may affect the phenotype;

Key points: Although genes have major effects on an organisms phenotype, the
organisms environment can also have large effects.

Lactase production in Escherichia coli

The bacterium Escherichia coli has a gene that codes for the production of the
enzyme lactase, which hydrolyses the disaccharide lactose to glucose and
galactose. This gene is only expressed when the bacterium encounters lactose in
its environment.

Hair colour in cats

Many different genes determine hair colour in cats. At least eight different genes.,
at different loci, are known to influence hair colour and it is thought that there
are probably more. These are known as polygenes. Depending on the particular
combination of allele that a cat has for each of these genes, it can have any of a
very wide range of colours. Hair colour in cats is an example of continuous
variation. This is variation in which there are no clear-cut categories. There is a
continuous range of variation in colour between the very lightest and very
darkest extremes.

The cat hair colour genes exert their effect by coding for the production of
enzymes. One such gene is found at the C locus. Siamese cats have two copies of
recessive allele of this gene called cs. This gene codes for an enzyme, which is
sensitive to temperature. It produces dark hair at the extremities of the paws,
ears and tail where the temperature is lower, and light hair in warmer parts of
the body. The colouring of a Siamese cat is therefore the result of interaction
between gene and environment.

Own notes

14

A2 Biology 9700 Chapter O - Inheritance Peter Ting

Human height

Many different genes at different loci also affect human height. It is also affected
by environment. Even if a person inherits alleles of these genes that give the
potential to grow tall, he or she will not grow tall unless the diet supplies plenty
of nutrients to allow this to happen. Poor nutrition, specially in childhood,
reduces the maximum height that is attained.

Cancer

The risk of developing cancer in influenced by both genes and environment. For
example, a woman with particular alleels of the genes BRCA1 or BRCA2 has 50%
to 80% chance of developing breast cancer at some stage in her life. This is a
much higher risk than for people who do not have these alleles. The normal
alleles of these genes protect cells from changes that could lead to them
becoming cancerous. However, environment also affects this risk. Smoking, for
example, increases the risk even further. Taking the drug tamoxifen can reduce
the risk.

Monoamine oxidase A

Monoamine oxidase A (MAO-A) is an enzyme that is found associated with
mitochondria in the nervous system, and also in the liver and digestive system.
In the nervous system, it is involved in the inactivation of neurotransmitters
including noradrenaline and serotonin.


Own notes

15

A2 Biology 9700 Chapter O - Inheritance Peter Ting

Some alleles of the monoamine oxidase gene produce low activity MAO-A, while
others produce high activity of MAO-A. It has been found that children with the
high activity form, if maltreated, are more likely to show antisocial behavior than
similarly treated children with low activity form.

Other behaviours, such as novelty seeking, also appear to be associated with
particular alleles of this gene. However in all cases the environment also has
large effect on bahaviour; behavior is produced by interaction between this gene
(and probably others as yet unidentified) and the environment.

(g) explain, with examples, how mutation may affect the phenotype;

Key points: Refer to Genetic Control

(i) explain how a change in the nucleotide sequence in DNA may affect the amino
acid sequence in a protein and hence the phenotype of the organism;

Key points: Refer to Genetic Control



Own notes

16

Peter Ting 12/2/12 8:26 AM

Comment [27]:
Recall;

-Genetic Codons
-Primary structure of proteins
-Replication error
-Degenerate codon (prevents a change
even if mutation occurs)
-Sickle cell anemia