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 Peter Ting 11/28/12 5:57 PM
Comment [1]: Trait/Phenotype =
similarity and yet it is no less noticeable that they also differ from each other in observable characteristics.
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? Peter Ting 11/28/12 6:01 PM
Comment [2]: Very often, the notion of
variation can be seen as intraspecific
Variation can be explained by understanding that genes control the traits, being variation or interspecific variation.
different in many organisms. How is it being different? Nevertheless, variation describes the
observable differences in traits between 2
organisms.
Fertilization: New life begins at fertilization, when the sperm and egg combine Peter Ting 11/28/12 6:06 PM
their genetic material. Genetic material is located in the nucleus, where every Comment [3]: What is a gene?
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 Peter Ting 11/28/12 6:28 PM
Comment [4]: This is a term you must be
two haploid daughter nuclei divides again) familiar with. Reduction division describes
the result of the cell division which
Own notes: produces a daughter cell that has half of the
chromosome number compared to the
parental cell.

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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 ;

Metaphase 2
13 chromosomes line up on equator ;
14 of spindle ;

Anaphase 2
The stages of meiosis 15 centromeres divide ;
16 chromatids move to poles ;
17 pulled by microtubules ;
(b) explain how meiosis and fertilisation can lead to variation; 18 ref. haploid number ;

Telophase 2
During normal cell growth, mitosis produces daughter cells identical to 19 Meiosis results in total of FOUR total
parent cell (2n to 2n). Meiosis results in genetic variation by shuffling of haploid cells.
maternal and paternal chromosomes and crossing over.
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.

Own notes:

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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:
Peter Ting 11/29/12 12:49 PM

Comment [7]: 9700/42/MayJune/2011
Crossing over, which happens between chromatids of homologous Q7(b) [5].
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
Peter Ting 12/10/12 1:36 PM
in metaphase I
Comment [8]: Due to the random
bivalents are arranged randomly on the equator alignment, there is possibility to create
gametes with unique combinations of
chromosomes. This means that, e.g. for 2
(c) explain the terms locus, allele, dominant, recessive, codominant, homozygous, homologous chromosomes present, the
heterozygous, phenotype and genotype; combination of different gametes/haploids
that will be produced is 4. This follow the
rule 2n, where n = number of homologous
Glossary of terms chromosomes.

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

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A2 Biology 9700 Chapter O - Inheritance Peter Ting


Carrier: an individual that has one copy of a
recessive allele that causes a genetic
disease in individuals that are
homozygous for this allele.
Test cross: 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.

Draw a genetic diagram to show the possible

offspring of this cross
wild type ebony body vestigial wing
Parental genotype: AaBb X AaBb
There are two phenotypes in the fruit fly, body and wings. Wild type fly has
Gametes : AB Ab aB ab (circle)
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 Offspring genotypes: punnet square
example of single pair allele inheritance. For every characteristics or traits, there
Offspring genotype : linked with genotype.
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. Peter Ting 11/29/12 7:08 PM
Comment [10]: In a homologous
chromosomes, ONLY two alleles can occupy,
Own Notes one for each loci.

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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?

Peter Ting 11/30/12 9:26 AM

Comment [12]:





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?
Peter Ting 11/30/12 9:28 AM
b) Give all possible genotype of a plant which only contains inhibitor A? Comment [13]:

c) Give all possible genotypes of the gametes produced by a plant that contains Peter Ting 11/30/12 9:29 AM
inhibitors B and C? Comment [14]:


Peter Ting 11/30/12 9:31 AM
d) Two soybean plants were crossed and the seeds collected and counted. The
Comment [15]:
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

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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. Peter Ting 11/30/12 10:02 AM
Comment [16]: Do you know that sex
chromosomes may not necessarily be
In the left hand example, homozygous red eyed females (RR) mate with homologous? Look at X and Y, they do not
hemizygous white eyed males (w-). In the offspring, all the daughters are red have the same length, in fact they are quite
significantly different in terms of length.
eyed heterozygotes (Rw) and all sons are red eyed hemizygotes (R-). In the
right hand, homozygous white eyed females (ww) mate with hemizygous red Q In your opinion, would the sex
eyed males (R-). In the offspring, all the daughters are red eyed heterozygotes chromosomes pair up during meiosis?

(Rw) and all sons are white eyed hemizygotes (w-). 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

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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
Males gamete X N X X
N N XnXn
Y X Y N 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
Peter Ting 11/30/12 11:24 PM
cells produce? The answer is no, because females have only a single active X
Comment [18]: The pseudoautosomal
chromosome in each cell. regions get their name because any genes
located within them (so far only 9 have been
During interphase, chromosomes are too tenuous to be stained and seen by light found) are inherited just like any autosomal
genes. Males have two copies of these genes:
microscopy. However, a dense, stainable structure, called a Barr body (after its one in the pseudoautosomal region of their Y,
discoverer) is seen in the interphase nuclei of female mammals. The Barr body is the other in the corresponding portion of their
one of the X chromosomes. Its compact appearance reflects its inactivity. So, the X chromosome. So males can inherit an allele
originally present on the X chromosome of
cells of females have only one functioning copy of each X-linked gene the same their father and females can inherit an allele
as males. originally present on the Y chromosome of
their father.
X-chromosome inactivation (XCI) occurs early in embryonic development. In a Crossing over occurs in two regions of pairing,
given cell, which of a female's X chromosomes becomes inactivated and called the pseudoautosomal regions.
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

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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) What is the genotype of a tortoiseshell cat?
ii) Explain why there is no male tortoiseshell cat? Peter Ting 11/30/12 11:41 PM
Comment [19]: Ans :

(d) use genetic diagrams to solve problems involving monohybrid cross Peter Ting 11/30/12 11:41 PM
codominance inheritance Comment [20]: Ans :

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 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

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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

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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.
Peter Ting 12/2/12 8:27 AM

Comment [22]:
(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 Peter Ting 12/1/12 5:39 PM
a homozygous recessive genotype (and phenotype). Comment [23]: Pure breeding organism
describes that the trait possessed came
from alleles which are homozygous.
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

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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.
Peter Ting 12/2/12 12:38 AM
However, to accept a hypothesis does not mean that it is true, only that we do not
Comment [24]: You know what is a
have evidence to believe otherwise. hypothesis is right?

There are many statistical test being used, however there are two which we will A null hypothesis describes how it behaves
positively towards the differences in the
particularly study in the syllabus. There are the chi-squared test and the t-test. results of the experiment. Means to say that
Knowing the function of each test is important because we cannot simply employ there is no big difference at all, despite how
a test that is not meant for certain data. The requirements to use each test are as big or small. Usually we doubt this to be
true, which is why we carry out the
follows; statistical test. If proven true that NH cant
be used, then we will believe in the
Chi-Squared Test alternative hypothesis instead.
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

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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

Peter Ting 12/2/12 1:42 AM
D.O.F = (number of columns) 1 = 2 1 = 1
Comment [25]:
The critical region encompasses those
Use the table below, to find the critical value, corresponding to 1 degree of values of the test statistic that lead to a
freedom and 5% level of significance. rejection of the null hypothesis. Based on
the distribution of the test statistic and the
REMINDER: Please use 5% significance level if the question doesnt indicate you significance level, a cut-off value for the test
to do otherwise. statistic is computed. Values either above or
below or both (depending on the direction
of the test) this cut-off define the critical
region.
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

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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

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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

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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

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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 t
his gene (and probably others as yet unidentified) and the environment.

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

Key points: Refer to Chapter 6

(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 Chapter 6
Peter Ting 12/2/12 8:26 AM

Comment [27]:
Recall;

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

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 Chapter 16: Inherited change

Gametogenesis in humans mitosis to produce many oogonia. These begin to divide by

In animals such as humans, meiosis occurs as gametes
are formed inside the testes and ovaries. The formation of
male gametes is known as spermatogenesis (Figure 16.10)
and the formation of female gametes as oogenesis
(Figure 16.11).
Sperm production takes place inside tubules in the testes.
Here, diploid cells divide by mitosis to produce numerous
diploid spermatogonia, which grow to form diploid primary
spermatocytes. The first division of meiosis then takes place,
forming two haploid secondary spermatocytes. The second
division of meiosis then produces haploid spermatids, which
mature into spermatozoa.
Oogenesis follows a similar pattern, but many fewer
gametes are made than during spermatogenesis, and the
process takes much longer, with long waiting stages. It
takes place inside the ovaries, where diploid cells divide by
meiosis, but stop when they reach prophase I. At this stage,
they are called primary oocytes, and they are, of course,
still diploid. All of this happens before a baby girl is born,
and at birth she has around 400000 primary oocytes in
her ovaries.
When she reaches puberty, some of the primary
oocytes get a little further with their division by meiosis.
They proceed from prophase I to the end of the first
meiotic division, forming two haploid cells. However, the
division is uneven; one cell gets most of the cytoplasm, and
becomes a secondary oocyte, while the other is little more
than a nucleus, and is called a polar body. The polar body
can be thought of as simply a way of getting rid of half of
the chromosomes, and has no further role to play
in reproduction.

mitosis diploid mitosis diploid

spermatogonia oogonia 371

(produced in embryo)

growth growth

meiosis meiosis

primary oocyte
primary spermatocyte diploid (produced in embryo) diploid
stop

secondary oocyte
secondary spermatocyte haploid (after puberty) haploid
stop
polar body
secondary oocyte
spermatid (one a month)

maturation of sperm maturation of oocyte

(after ovulation)
polar body
spermatozoan haploid ovum haploid

Figure 16.10 Spermatogenesis in humans. Figure 16.11 Oogenesis in humans.

 Cambridge International A Level Biology

Each month, one secondary oocyte is released into a

the oviduct from one of the ovaries. If it is fertilised, it pollen mother cell (2n)
continues its division by meiosis, and can now be called
meiosis
an ovum. The chromosomes of the spermatozoan and the
ovum join together to form a single diploid nucleus, and
the cell that is made by this process is called a zygote. The 4 haploid cells (n)
zygote can now divide repeatedly by mitosis to form first
an embryo, and then a fetus. mitosis

Gametogenesis in flowering plants

young pollen grains
Figure 16.12 shows the structure of a typical flower. Male containing two haploid
gametes are produced in the anthers, and female gametes nuclei (n)
in the ovules.

mature pollen grains (n)

petal

sepal anther

372 stigma filament

style nectary
ovary stamen
ovule receptacle

carpel
flower stalk

Figure 16.12 The structure of a flower.

Inside the anthers, diploid pollen mother cells divide Figure 16.13 a The development of pollen grains from pollen
by meiosis to form four haploid cells. The nuclei of each mother cells. b Mature pollen grains (1500).
of these haploid cells then divide by mitosis, but the cell
itself does not divide (cytokinesis does not take place),
The embryo sac grows larger, and its haploid nucleus
resulting in cells that each contain two haploid nuclei.
divides by mitosis three times, forming eight haploid
These cells mature into pollen grains, each surrounded
nuclei. One of these becomes the female gamete.
by a protective wall made up of a tough exine and thinner
Fertilisation occurs when a male gamete from a pollen
intine (Figure 16.13). One of the haploid nuclei is called
grain fuses with a female gamete inside an ovule. This
the tube nucleus, and the other is the generative nucleus.
forms a diploid zygote, which grows into an embryo plant.
These are the male gametes.
Note that in plants, unlike animals, the gametes are not
Inside each ovule, a large, diploid, spore mother cell
formed directly by meiosis. Instead, meiosis is used in the
develops. This cell divides by meiosis to produce four
production of pollen grains and the embryo sac and the
haploid cells. All but one of these degenerates, and the one
gametes are then formed inside these structures by
surviving haploid cell develops into an embryo sac
mitotic divisions.
(Figure 16.14).
 Chapter 16: Inherited change

a b
An ovary The development of the embryo sac

diploid spore mother cell (2n)

meiosis
ovary wall

ovule haploid cells (n)

mitosis
An ovule micropyle

two haploid nuclei in the cell

spore mother cell which forms the embryo sac (n)
(the 3 cells at the micropyle
are crushed)

mitosis

attachment to the
ovary wall 373
4 haploid nuclei (n)

mitosis

8 haploid nuclei (n)

Mature embryo sac

egg cell (female
gamete) (n)

Figure 16.14 a Structure of an ovary and an ovule. b Development of the embryo sac.
 Chapter 16: Inherited change

Sex linkage
The X chromosome contains many different genes. One of
them is a gene that codes for the production of a protein
needed for blood clotting, called factor VIII. There are
two alleles of this gene, the dominant one, H, producing
normal factor VIII, and the recessive one, h, resulting in a
lack of factor VIII. The recessive allele causes the disease
haemophilia, in which the blood fails to clot properly.
Each time this couple has a child, there is a 0.25
probability that it will be a normal girl, a 0.25 probability
that it will be a normal boy, a 0.25 probability that it will
be a carrier girl, and a 0.25 probability that it will be a boy
with haemophilia.
Females

The fact that the gene for haemophilia is on the X

chromosome, and not on an autosome, affects the way that
it is inherited. Females, who have two X chromosomes,
H H H h h h
have two copies of the gene. Males have only one XX H H XHXh XhXh
Xchromosome, and so have only one copy of the gene. normal normal lethal
Therefore, the possible genotypes for men and women are (carrier) (zygote usually
does not develop)
different. They are shown in Figure 16.17.
The factor VIII gene is said to be sex linked. A Males
sex-linked gene is one that is found on a part of the X
chromosome not matched by the Y, and therefore not
found on the Ychromosome.
Genotypes including sex-linked genes are always
represented by symbols that show that they are on an
Xchromosome. Thus the genotype of a woman who has H h
XHY XhY 379
the allele H on one of her X chromosomes, and the allele normal haemophilia
hon the other, is written as XHX h.
You can draw genetic diagrams to show how sex-linked Figure 16.17 The possible genotypes and phenotypes for
genes are inherited, in exactly the same way as for other haemophilia.
genes. For example, the following diagram shows the
children that could be born to a couple where the man
does not have haemophilia, while the woman is a carrier
QUESTIONS
for the disease.
16.13 Can a man with haemophilia pass on the disease to:
a his son?
Parental phenotypes normal man carrier b his grandson?
woman 16.14 One of the genes for colour vision in humans is found
Parental genotypes XHY XHXh on the X chromosome but not on the Y chromosome.
The dominant allele of this gene gives normal colour
Gametes XH or Y XH or Xh vision, whereas a recessive allele produces red
Offspring genotypes and phenotypes: green colour blindness.
a Choose suitable symbols for these alleles, and
Gametes from woman then write down all of the possible genotypes for
XH Xh a man and for a woman.
b A couple who both have normal colour vision
XHXH XHXh
XH normal carrier have a child with colour blindness. Explain how
Gametes female female this may happen, and state what the sex of the
from man colour-blind child must be.
XhY c Is it possible for a colour-blind girl to be born?
Y XHY haemophiliac
normal male Explain your answer.
male
 Chapter 16: Inherited change

387
Mutations
You have seen that most genes have several different
variants, called alleles. A gene is made up of a sequence
of nucleotides, each with its own base. The different alleles
of a gene contain slightly different sequences of bases.
These different alleles originally arose by a process
called mutation. Mutation is an unpredictable change
in the genetic material of an organism. A change in the
structure of a DNA molecule, producing a different allele
of a gene,is a gene mutation. Mutations may also cause
changes in the structure or number of whole chromosomes
in a cell, in which case they are known as chromosome
mutations (or chromosome aberrations).
Mutations may occur completely randomly, with no
obvious cause. However, there are several environmental
factors that significantly increase the chances of a
mutation occurring. All types of ionising radiation (alpha,
beta and gamma radiation) can damage DNA molecules,
altering the structure of the bases within them. Ultraviolet
radiation has a similar effect, as do many chemicals for
example, mustard gas. A substance that increases the
chances of mutation occurring is said to be a mutagen.
 Cambridge International A Level Biology
In gene mutations, there are three different ways in
which the sequence of bases in a gene may be altered.
These are:
base substitution, where one base simply takes the place
of another; for example, CCT GAG GAG may change
to CCT GTG GAG
base addition, where one or more extra bases are added
to the sequence; for example, CCT GAG GAG may
change to CCA TGA GGA G
base deletion, where one or more bases are lost from
the sequence; for example, CCT GAG GAG may change
to CCG AGG AG.
Base additions or deletions usually have a very significant
effect on the structure, and therefore the function, of
the polypeptide that the allele codes for. If you look up
the DNA triplet codes, the amino acids that are coded for
by the normal sequence shown above, you will see that it
is Gly Leu Leu. But the new sequence resulting from the
base addition codes for Gly Thr Pro, and that resulting
from the base deletion is Gly Ser. Base additions or
deletions always have large effects, because they alter every
set of three bases that follows them in the DNA
388 molecule. Base additions or deletions are said to cause
frame shifts in the code. Often, the effects are so large that
the protein that is made is totally useless. Or the addition
or deletion may introduce a stop triplet part way through
a gene, so that a complete protein is never made at all.
Base substitutions, on the other hand, often have no
effect at all. A mutation that has no apparent effect on
anorganism is said to be a silent mutation. Base
substitutions are often silent mutations because many
amino acids have more than one triplet code (see the
DNA triplet codes again), so even if one base is
changed, the sameamino acid is still coded for. You
have seen above that a change from CCT to CCA or
CCG makes no difference the amino acid that will be
slotted into the chain at that point will still be Gly.
However, base substitutions can have very large effects.
Suppose, for example, the base sequence ATG (coding
for Tyr) mutated to ATT. This is a stop triplet, so the
synthesis of the protein would stop at thispoint.
Sickle cell anaemia
One example of a base substitution that has a significant
effect on the phenotype is the one involved in the
inheritedblood disorder, sickle cell anaemia.
You will remember that the gene that codes for the
aminoacid sequence in the -globin polypeptide is
not the same in everyone. In most people, the -globin
polypeptide beginswith the amino acid sequence coded
from the HbA allele:
Val-His-Leu-Thr-Pro-Glu-Glu-Lys-
But in people with the HbS allele, the base sequence CTT
is replaced by CAT, and the amino acid sequence becomes:
Val-His-Leu-Thr-Pro-Val-Glu-Lys-
This small difference in the amino acid sequence makes
little difference to the haemoglobin molecule when it is
combined with oxygen. But when it is not combined with
oxygen, the unusual -globin polypeptides make the
haemoglobin molecule much less soluble. The molecules tend
to stick to each other, forming long fibres inside the
red blood cells. The red cells are pulled out of shape, into a
half-moon or sickle shape. When this happens, the distorted
cells become useless at transporting oxygen. They also get
stuck in small capillaries, stopping any unaffected cells from
getting through.
A person with this unusual -globin can suffer severe
anaemia (lack of oxygen transported to the cells) and
may die. Sickle cell anaemia is especially common in
some parts of Africa and in India. You can read about the
reasons for this distribution in Chapter 17.
Albinism
Albinism provides an example of the relationship between
a gene, an enzyme and a human phenotype.
In albinism, the dark pigment melanin is totally or
partially missing from the eyes, skin and hair. In humans
this results in pale blue or pink irises in the eyes and very
pale skin and hair (Figure 16.22). The pupils of the eyes
appear red. The condition is often accompanied by poor
Figure 16.22 An albino boy with his classmates in South Africa.

vision, by rapid, jerky movements of the eyes and by a
tendency to avoid bright light.
Mutations at several loci may be responsible for this
condition, but in its classic form the mutation is an
autosomal recessive and individuals that are homozygous
for the recessive allele show albinism. Such individuals
occur in about 1 in 17000 births worldwide. However, the
condition is relatively common in some populations such
as the Hopi in Arizona and the Kuna San Blas Indians in
Panama. A different form of albinism, which affects the
eyes, but not the skin, is sex-linked.
A mutation in the gene for the enzyme tyrosinase
results in either the absence of tyrosinase or the presence
of inactive tyrosinase in the cells responsible for melanin
production. In these melanocytes, the first two steps of
the conversion of the amino acid, tyrosine into melanin
cannot take place. Tyrosine cannot be converted into
DOPA and dopaquinone.
tyrosinase
tyrosine DOPA dopaquinone melanin
Tyrosinase is an oxidase and has two copper atoms
in its active site which bind an oxygen molecule. It is a
transmembrane protein and is found in the membrane of
large organelles in the melanocytes called melanosomes.
Most of the protein, including the active site, is inside
the melanosome.
Tyrosinases occur in plant as well as in animal tissues.
The action of the enzyme can be seen in the blackening of
a slice of potato left exposed to the air.
Huntingtons disease
So far, in the examples of the inheritance of human
conditions, the mutations have been inherited as recessive
alleles. Huntingtons disease (HD) provides an example
of a mutation that is inherited as a dominant allele.
This means that most people with the condition are
heterozygous and have a 1 in 2 chance of passing on the
condition to a child.
HD is a neurological disorder resulting in involuntary
movements (chorea) and progressive mental deterioration.
Brain cells are lost and the ventricles of the brain become
larger. The age of onset is variable, but occurs most
commonly in middle age, so that individuals may have
children before they know that they themselves have
the condition.
Chapter 16: Inherited change
The mutation is an unstable segment in a gene on
chromosome 4 coding for a protein, huntingtin. In people
who do not have HD, the segment is made up of a small
number of repeats of the triplet of bases CAG. People
with HD have a larger number of repeats of the CAG
triplet. This is called a stutter. There is a rough inverse
correlation between the number of times the triplet of
bases is repeated and the age of onset of the condition: the
more stutters, the earlier the condition appears.
Gene control in prokaryotes
In both prokaryotes and eukaryotes, transcription of
a gene is controlled by transcription factors. These are
proteins that bind to a specific DNA sequence and control
the flow of information from DNA to RNA by controlling
the formation of mRNA.
To understand how gene expression in bacteria is
controlled, you must distinguish between structural genes
and regulatory genes.
Genes that code for proteins required by a cell are
called structural genes. Such proteins may literally
form part of a cellular structure, but they may also
have some other role, such as acting as an enzyme.
389
Genes that code for proteins that regulate the
expression of other genes are called regulatory genes.
You must also distinguish between repressible and
inducible enzymes.
The synthesis of a repressible enzyme can be prevented
by binding a repressor protein to a specific site, called
an operator, on a bacteriums DNA.
The synthesis of an inducible enzyme occurs only when
its substrate is present. Transcription of the gene occurs
as a result of the inducer (the enzymes substrate)
interacting with the protein produced by the
regulatory gene.
The different roles of structural and regulatory genes can
be seen by looking at the control of gene expression in a
prokaryote using the lac operon. An operon is a length of
DNA making up a unit of gene expression in a bacterium.
It consists of one or more structural genes and also control
regions of DNA that are recognised by the products of
regulatory genes.
 Cambridge International A Level Biology

The lac operon The repressor protein is allosteric. This means that it has
The enzyme -galactosidase hydrolyses the disaccharide two binding sites. When the protein binds to a molecule
lactose to the monosaccharides glucose and galactose. at one site, this affects its ability to bind to a different
In the bacterium, Escherichia coli, the number of molecule at the other binding site. The site that binds to
molecules of this enzyme present in a bacterial cell varies DNA is separate from the site that binds to lactose. When
according to the concentration of lactose in the medium lactose binds to its site, the shape of the protein changes
in which the bacterium is growing. The bacterium has one so that the DNA-binding site is closed. Compare this
copy of the gene coding for -galactosidase and so, to alter mechanism with enzyme inhibition in Chapter 3.
the concentration of the enzyme in its cell, it must regulate When lactose is present in the medium in which the
the transcription of the gene. bacterium is growing:
The lac operon consists of a cluster of three structural lactose is taken up by the bacterium
genes and a length of DNA including operator and lactose binds to the repressor protein, distorting its
promoter regions. The three structural genes are: shape and preventing it from binding to DNA at the
lacZ, coding for -galactosidase operator site
lacY, coding for permease (which allows lactose to enter transcription is no longer inhibited and messenger
the cell) RNA is produced from the three structural genes.
lacA, coding for transacetylase. The genes have been switched on and are transcribed
together (Figure 16.23).
Close to the promoter, but not actually part of the operon,
is its regulatory gene (Figure 16.23). This mechanism allows the bacterium to produce
The sequence of events when there is no lactose in the -galactosidase, permease and transacetylase only when
medium in which the bacterium is growing is as follows: lactose is available in the surrounding medium and to
produce them in equal amounts. It avoids the waste of
the regulatory gene codes for a protein called a repressor energy and materials in producing enzymes for taking
390
the repressor binds to the operator region, close to the up and hydrolysing a sugar that the bacterium may never
gene for -galactosidase meet. However, the sugar can be hydrolysed when it is
in the presence of bound repressor at the operator, RNA available. The enzyme -galactosidase is an inducible
polymerase cannot bind to DNA at the promoter region enzyme. Look back at the distinction between repressible
no transcription of the three structural genes can and inducible enzymes and convince yourself that this
take place. is so.
part of the lac operon
bacteriums
part of the DNA lac operon
bacteriums
part of the DNA lac operon The regulatory gene codes for the
lacZ lacY lacA
bacteriums DNA lac
Therepressor protein.
regulatory gene codes for the
promoter for promoter for operator lacZ -galactoside
lacY lacA
lac
Therepressor protein.
regulatory gene codes for the
regulatory
promoter for structural
promoter genes
for operator lacZ permease
-galactoside lacA
lacY gene
gene
regulatoryfor lac repressor protein.
promoter regulatorystructural
promoter genes
for -galactosidase
operator permease -galactoside
gene
-galactoside
gene
regulatory gene
regulatorystructural genes gene
-galactosidase
permease transacetylase
-galactoside gene
gene
gene gene
regulatory gene
-galactosidase transacetylase
-galactoside gene
structural genes
gene gene transacetylase gene
structural genes
RNA polymerase lac repressorstructural
protein genes
When the lac repressor protein is
RNA polymerase lac repressor protein attached
When theto lacthe operatorprotein
repressor gene, is
RNA polymerase lac repressor protein RNA polymerase cannot attach
attached
When theto lacthe operatorprotein
repressor gene, is
to
RNA thepolymerase
attachedDNA. cannot attach
to the operator gene,
to
RNA thepolymerase
DNA. cannot attach
to the DNA.
If lactose is present, it binds to
the lac repressor
If lactose protein,
is present, which
it binds to
is
thedetached from
lac repressor
If lactose the DNA.
protein,
is present, This
which
it binds to
allows
is
the lac RNA
detached polymerase
from protein,
repressor towhich
the DNA. bind
This
lactose
and
allowstranscribe thethe
operons
RNA polymerase
is detached from to bind
DNA. This
lactose structural genes.
and
allowstranscribe the operons
RNA polymerase to bind
Figure 16.23 Regulation of genelactose
expression by the lac operon. structural genes.
and transcribe the operons
structural genes.

The bacterium uses glucose in preference to other
sugars. When a bacterium finds both glucose and lactose
in the medium in which it is growing, it represses the use
of lactose by suppressing the lac operon by means of a
different transcription control factor.
Gene control in eukaryotes
In general, the number of different proteins that act as
transcription factors increases with increasing size of the
genome. This means that eukaryotes have many more
ways of regulating gene expression than have prokaryotes.
In humans, for example, about 10% of the genes code for
proteins which act as transcription factors.
The factors may bind to the promoter region of a gene.
They may increase or decrease the transcription of the
gene. Whatever the mechanism, their role is to make sure
that genes are expressed in the correct cell at the correct
time and to the correct extent.
Effects of transcription factors include the following.
General transcription factors are necessary for
transcription to occur. They form part of the protein
complex that binds to the promoter region of the
gene concerned.
Other factors activate appropriate genes in sequence,
allowing the correct pattern of development of
body regions.
1 PIF cannot bond to a gene promoter
while it is bound to a DELLA protein.
gibberellin
gibberellin
receptor
DELLA enzyme
PIF
3 PIF can now bind with the promoter
and transcription can be initated.
Figure 16.24 How gibberellin controls gene transcription.
Chapter 16: Inherited change
A transcription factor is responsible for the
determination of sex in mammals.
Transcription factors allow responses to environmental
stimuli, such as switching on the correct genes to
respond to high environmental temperatures.
Some transcription factors, including the products
of proto-oncogenes and tumour suppressor genes,
regulate the cell cycle, growth and apoptosis
(programmed cell death) (Chapter 5).
Hormones have their effect through transcription factors.
The plant hormone, gibberellin, controls seed germination
in plants such as wheat and barley by stimulating the
synthesis of amylase (Chapter 15, page 356). It is a good
example of how a hormone can influence transcription.
It has been shown that, in barley seeds, application of
gibberellin causes an increase in the transcription of
mRNA coding for amylase.
Gibberellin has this effect by causing the breakdown of
DELLA proteins (Figure 16.24). A DELLA protein inhibits
the binding of a transcription factor, such as phytochrome-
interacting protein (PIF), to a gene promoter. By causing
the breakdown of the DELLA protein, gibberellin allows
PIF to bind to its target promoter. Transcription of the
391
gene can then take place, resulting in an increase in
amylase production.
2 Gibberellin bonds with a
receptor and an enzyme.
This initiates the destruction
of the DELLA protein.
transcription
DNA