HEREDITY AND GENETICS

Genetics is concerned with explaining how some characteristics are passed from generation to
generation i.e. heredity or inheritance.
In biology, a difference between individuals of the same species, found in any sexually
reproducing population is called variation. Variations may be almost unnoticeable in some cases,
obvious in others, and can concern many aspects of the organism. Typically, variations in size,
behaviour, biochemistry, or colouring may be found. The cause of the variation is genetic (that is,
inherited), environmental, or more usually a combination of the two. Some variation is the result
of the environment modifying inherited characteristics. The origins of variation can be traced to
the recombination of the genetic material during the formation of the gametes, and, more rarely,
to mutation. Variation is seen in the physical appearance no two organisms are identical, even
identical twins show subtle differences which may have been conferred by the environment (e.g.
diet, activities, relationships and experiences)
These differences in phenotype occur as a result of the genotype and the environment.
An example of inherited variation is blood groups in humans. An extreme example of variation
produced by the environment is the loss of a part of the body from injury. An example of
variation that involves the environment modifying inherited characteristics is height. The
characteristic of being tall or short is inherited, but the availability of food in the environment
determines the actual height of the individual.
There are two forms of variation: continuous and discontinuous.
Characteristics showing continuous variation vary in a general way, with a broad range and
many intermediate values in between the extremes. Differences can be slight and merge into each
other. Examples of continuous variation include height in humans, foot length, skin colour, leaf
size, pod size in legumes, hand span and milk yield in cows.
Continuous variation is the combined effect of many genes (known as polygenic inheritance)
and is often significantly affected by environmental influences. Milk yield in cows, for example,
is determined not only by their genetic make-up but is also significantly affected by

environmental factors such as pasture quality and diet, weather, and the comfort of their
surroundings.
Discontinuous variation this is where individuals fall into a number of distinct classes or
categories, and is based on features that cannot be measured across a complete range. They do
not merge or grade into each other. You either have the characteristic or you don't. Blood groups
are a good example: you are either one blood group or another - you can't be in between. Such
data is called discrete (or categorical) data.
Discontinuous variation is controlled by alleles of a single gene or a small number of genes.
The environment has little effect on this type of variation. Examples include tongue rolling,
presences and absence of horns in cattle, hitch hikers thumb, webbed ear lobes.
GENES
As you recall genetic information is passed from parent to offspring in chromosomes, which are
found in the cells of the body. A gene can also be defined as a region of DNA that controls a
hereditary characteristic. Each chromosome consists of genes, or the units of inheritance, they
control specific characteristics in an organism. Each chromosome of a homologous pair has the
same genes in the same location, so each body cell has two copies of each gene. A gene carries
biological information in a form that must be copied and transmitted from each cell to all its
progeny. Genes can be as short as 1000 base pairs or as long as several hundred thousand base
pairs. It can even be carried by more than one chromosome. The estimate for the number of
genes in humans has decreased as our knowledge has increased. As of 2001, humans are thought
to have between 30,000 and 40,000 genes.

Legend:
Illustration of the placement of genes in a chromosome.
Genes can have more than one form an allele is an alternative form of a gene (one member of a
pair) that is located at a specific position on a specific chromosome. Thus a cell can have two
alleles of a gene that are the same as each other or different, if the alleles are the same then the
organism is homozygous for that trait. If the two alleles are different then we say the organism is
heterozygous for that trait. Example the gene for seed shape in pea plants exists in two forms,
one form or allele for round seed shape (R) and the other for wrinkled seed shape (r). When the
alleles of a pair are heterozygous, one is dominant and the other is recessive. The dominant allele
is expressed and the recessive allele is masked. Using the previous example, round seed shape
(R) is dominant and wrinkled seed shape (r) is recessive. Round: (RR) or (Rr), Wrinkled: (rr).
DOMINANCE
If alleles of a gene are different one may mask the expression of another. An allele that expresses
its phenotypic effect even when heterozygous with a recessive allele. We use capital letters to
illustrate dominant alleles. An allele whose phenotypic effect is not expressed in a heterozygote
is referred to as recessive. We use lower case letters to represent these. . Thus if A is dominant
over a, then AA and Aa have the same phenotype. AA is referred to as the homozygous dominant
genotype, Aa is referred to as the heterozygous genotype and aa is referred to as the homozygous
recessive genotype.
Recall that the genetic makeup or composition of cells is known as the genotype of an organism.
The phenotype is the physical expression of this genotype. Physical characteristics are the result
the interaction of genotype and the environment.

GENETIC DIAGRAMS
These show the cross between two genotypes, the genotypes and phenotypes of the parents and
the possible genotypes and phenotypes of the offspring.
A genetic diagram is a useful tool to help us predict the probability of a characteristic of an
organism. In the following example, the result of mating between a homozygous white eye fruit
fly and a homozygous red eye fruit fly are studied. It is known that the allele for white eye is
dominant over the allele for red eye.
Let W be the dominant allele for white eye
Let w be the recessive allele for red eye
Parent phenotype

White eyed

Parent genotype

WW

Gametes

Red eyed
X

Fertilisation
Possible offspring genotype(F1 generation)
Offspring phenotype

White eyed

ww

Ww

Since the two fruit flies are homozygous, their homologous chromosomes has the same alleles.
When the homologous chromosomes separate during meiosis, the white eyed fruit fly produces
gametes containing alleles W and W, while the red eyed fruit fly produces w and w gametes
only. When the two gametes, (one from mother and one from father), fuse during fertilisation,
only one type of cell results. The daughter cell contains the allele Ww, and is heterozygous. But
W is dominant over w, therefore all the offspring must be white eyed.
In the following example, the result of mating between a heterozygous albino man and another
heterozygous albino woman is studied. It is known that the allele for normal pigment is dominant
over the allele for albino.
Albino is a disease that causes people to be unable to produce pigments and their hairs and skins
are colourless as a result. This is due to an effective gene that produces a defective protein.

Let N be the dominant allele for normal pigment.

Let n be the recessive allele for albino.
Parent phenotype

Heterozygous Normal

Parent genotype

Nn

Gametes

N n

Heterozygous Normal

Nn
N n

Fertilisation
Possible offspring genotype (F1 generation)
Offspring phenotype

Normal

Ratio of phenotype

3 normal

NN

Nn

Nn

Normal

Normal

Albino

nn

1 albino

Since the two fruit flies are heterozygous, their homologous chromosomes has the different
alleles. When the homologous chromosomes separate during meiosis, the each parent will
produce two types of alleles, N for normal pigment and n for albino. When the two gametes,
(one from mother and one from father), fuse during 5ertilization, three types of cells results. The
ratio of normal child to albino child is 3 : 1.

Crosses can be represented in another way. By the use of a Punette square

The Punnett square is a diagram that is used to predict the outcome of a particular cross or
breeding experiment. It is named after Reginald C. Punnett, who devised the approach, and is
used by biologists to determine the probability of an offspring having a particular genotype. The
Punnett square is a summary of every possible combination of one maternal allele with one
paternal allele for each gene being studied in the cross.
Typical monohybrid cross
In this example, both organisms have the genotype Bb. They can produce gametes that contain
either the B or b alleles. (It is conventional in genetics to use capital letters to indicate dominant
alleles and lower-case letters to indicate recessive alleles.) The probability of an individual
offspring having the genotype BB is 25%, Bb is 50%, and bb is 25%.

Maternal

BB

Bb

Bb

bb

Paternal

It is important to note that Punnett squares only give probabilities for genotypes, not phenotypes.
The way in which the B and b alleles interact with each other to affect the appearance of the
offspring depends on how the gene products (proteins) interact (see Mendelian inheritance). For
classical dominant/recessive genes, like that which determines whether a rat has black hair (B) or
white hair (b), the dominant allele will mask the recessive one. Thus in the example above 75%
of the offspring will be black (BB or Bb) while only 25% will be white (bb). The ratio of the
phenotypes is 3:1, typical for a monohybrid cross.

Typical dihybrid cross

More complicated crosses can be made by looking at two or more genes. The Punnett square
only works, however, if the genes are independent of each other, which means that having a
particular allele of gene X does not imply having a particular allele of gene Y.
The following example illustrates a dihybrid cross between two heterozygous pea plants. R
represents the dominant allele for shape (round), while r represents the recessive allele
(wrinkled). Y represents the dominant allele for color (yellow), while y represents the recessive
allele (green). If each plant has the genotype Rr Yy, and since the alleles for shape and color
genes are independent, then they can produce four types of gametes with all possible
combinations: RY, Ry, rY and ry.

RY

Ry

rY

ry

RY

RRYY

RRYy

RrYY

RrYy

Ry

RRYy

RRyy

RrYy

Rryy

rY

RrYY

RrYy

rrYY

rrYy

ry

RrYy

Rryy

rrYy

rryy

Since dominant traits mask recessive traits, there are nine combinations that have the phenotype
round yellow, three that are round green, three that are wrinkled yellow and one that is
wrinkled green. The ratio 9:3:3:1 is typical for a dihybrid cross.

TEST CROSS OR BACK CROSS

The crossing of an organism, with an unkown genotype, to a homozygous recessive organism

(tester). Homozygous dominant and heterozygous individuals have the same phenotype, you
cannot tell their genotype by just looking at them, so this can be determined using a test cross.
In the fruit fly Drosophila melanogaster black body (b) is recessive to the normal gray body
(B). You are given a male with a gray body. Determine its genotype.
Procedure : The male has one of two genotypes : BB or Bb. This male is crossed to a blackbodied female of genotype bb. There are two possible outcomes:
Outcome 1: Male is Heterozygous (Bb)
Female

Male
Gamete

B (1/2)
b (1/2)

Gamete
b (1)
Bb (1/2)
bb (1/2)

Outcome 2: Male is Homozygous

(BB)
Female
Male
Gamete

B (1)

Gamete
b (1)
BB (1)

In outcome 1, the male had the genotype Bb. By the principle of segregation, he made two
gametes B and b in equal frequencies. The tester female had genotype bb and made only one
gamete (b) with a frequency of 1. The progeny of this cross were 50% gray body and 50% black
body reflecting the type and frequency of their father's gametes.
In outcome 2, the male had the genotype BB. He made only one gamete (B) with a frequency of
1. The tester female had genotype bb and made only one gamete (b) with a frequency of 1. The
progeny of this cross were 100% gray heterozygotes (Bb) reflecting the type and frequency of
their father's gametes.

INCOMPLETE DOMINANCE

A form of intermediate inheritance in which heterozygous alleles are both expressed, resulting in
a combined phenotype. There is thus a blending of the expressions of both alleles.
The situation in which both alleles of a heterozygote influence the phenotype. The phenotype is
usually intermediate between the two homozygous phenotypes. The situation in which a
heterozygote shows a phenotype somewhere (but not exactly half-way) intermediate between
the corresponding homozygote phenotypes. (Exact intermediacy is no dominance.)
For example, in cross-pollination experiments between red and white snapdragon plants the
resulting offspring are pink. Or if allele R(RR) produced a red flower, and allele W(WW)
produces a white flower, then the heterozygote (RW) produces a pink flower.

CO DOMINANCE
Is a condition in which both alleles of a gene pair in a heterozygote are fully expressed, with

neither one being dominant or recessive to the other. Thus if allele R (RR) produces red flowers
and allele W (WW) produces white flowers then RW will produce a flower with patches of red and
white color. There is no blending of allelic expression. An example is in human blood groups with
alleles A, B and O. A and B are equally dominant to each other, and O is recessive to both. Only
two alleles can be present in a cell, so there are six possible genotypic combinations: AA, BB, OO,
AO, BO and AB. There are four possible corresponding phenotypes: blood group A, blood group
B, blood group O and blood group AB.
Examples of Blood type crosses

Blood Transfusions
Blood can only be transferred to a body of a person who's immune system will "recognize" the
blood. A and B are antigens on the blood that will be recognized. If the antigen is unfamiliar to the
body, your body will attack and destroy the transfused blood as if it were a hostile invader (which
can cause death).
O is like a blank, it has no antigens. O is called the universal donor because a person can receive a
transfusion from O blood without having an immune response
AB is the universal acceptor, because a person with AB blood has both the A and B antigens
already in the body, A and B blood can be transfused to the person (as well as O) and the body
will recognize it and not attack.
GENETIC EFFECTS

Sickle Cell Anaemia

Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells
that delivers oxygen to cells throughout the body. People with this disorder have atypical
hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or
crescent, shape.
Signs and symptoms of sickle cell disease usually begin in early childhood. Characteristic features
of this disorder include a low number of red blood cells (anemia), repeated infections, and periodic
episodes of pain. The severity of symptoms varies from person to person. Some people have mild
symptoms, while others are frequently hospitalized for more serious complications.
The signs and symptoms of sickle cell disease are caused by the sickling of red blood cells. When
red blood cells sickle, they break down prematurely, which can lead to anemia. Anemia can cause
shortness of breath, fatigue, and delayed growth and development in children. The rapid
breakdown of red blood cells may also cause yellowing of the eyes and skin, which are signs of
jaundice. Painful episodes can occur when sickled red blood cells, which are stiff and inflexible,
get stuck in small blood vessels. These episodes deprive tissues and organs of oxygen-rich blood
and can lead to organ damage, especially in the lungs, kidneys, spleen, and brain. A particularly
serious complication of sickle cell disease is high blood pressure in the blood vessels that supply
the lungs (pulmonary hypertension). Pulmonary hypertension occurs in about one-third of adults
with sickle cell disease and can lead to heart failure.
The allele N produces normal red blood cells, the allele S produces sickle shaped red blood cells,
so that:
NN all red blood cells are normal, SS red blood cells are sickle shaped, SN 30 -40 % of red
blood cells are sickle shaped, so the individual suffers from the sickle cell trait.
SEX DETERMINATION
In a human, the normal chromosomes complement is 46, 44 of which are autosomes while 2
distinct chromosomes are deemed sex chromosomes, which determine the sex of an organism and

various sex linked characteristics.

In most animals, those who possess XX chromosomes are female while male animals possess an X
and a Y chromosome. However, this is not true of all organisms, as it can be reversed in some
species.
Sex Determination
A humans' sex is predetermined in the sperm gamete.
The egg gamete mother cell is said to be homogametic, because all its cell possess the XX sex
chromosomes. Sperm gametes are deemed heterogametic because around half of them contain the
X chromosome and others possess the Y chromosome to compliment the first X chromosome.
In light of this, there are two possibilities that can occur during fertilisation between male and
female gametes, XX and XY. Since sperm are the variable factor (i.e. which sperm fertilises the
egg) they are responsible for determining sex.
Chromosomes X and Y
Chromosomes X and Y do not truly make up a homologous pair. They act similarly in their roles,
but they are not homologous (the same). The X chromosome in humans is much longer than the Y
chromosome and also contains many more genes.
These genes are said to be sex linked, due to the fact they are present in one of the sex
chromosomes. During fertilisation, when the opposing homologous chromosomes come together,
the smaller Y chromosome offers no dominance against the 'extra' X chromosomes as indicated
below.

The arrows indicate sex linked genes in the X chromosome. In this homologous pairing, all those
genes are dominant, because there are no opposing genes in the Y chromosome to offer
dominance.
So when the organism has an XY chromosome compliment (i.e. a male), these sex linked genes
are freely expressed in the organisms phenotype, an example being hairy ears developing in old
age.
Sex Linked Characteristics
The sex chromosomes also carry genes other than those that determine sex and are said to be sex
linked. These sex linked genes on the X chromosome display a number of characteristics. The
following are just some examples of phenotypes as a result of these genes in expression;

Red-Green colour blindness

Haemophilia - A condition which prevents the clotting of the blood

Hairy ears in men through advancing age

HAEMOPHILIA
Haemophilia is a bleeding disorder that slows the blood clotting process. People with this
condition often experience prolonged bleeding or oozing following an injury, surgery, or having a
tooth pulled. In severe cases of hemophilia, heavy bleeding occurs after minor trauma or even in
the absence of injury (spontaneous bleeding). Serious complications can result from bleeding into
the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not involve

spontaneous bleeding, and the condition may only become apparent when abnormal bleeding
occurs following surgery or a serious injury.
The major types of this condition are hemophilia A (also known as classic haemophilia) and
haemophilia B (also known as Christmas disease). Although the two types have very similar signs
and symptoms, they are caused by mutations in different genes. People with an unusual form of
haemophilia B, known as haemophilia B Leyden, experience episodes of excessive bleeding in
childhood, but have few bleeding problems after puberty. Another form of the disorder, acquired
haemophilia, is not caused by inherited gene mutations. This rare condition is characterized by
abnormal bleeding into the skin, muscles, or other soft tissues, usually beginning in adulthood.
We can represent the dominant gene for blood clotting as H, and the recessive gene that causes
haemoplilia as h. So that :
XHXH female, normal
XHXh female, normal clotting blood, but is a carrier of the recessive allele which is not
expressed.
XhXh female, haemophiliac
XHY male, normal
XhY male, haemophiliac
PEDIGREE CHARTS/ DIAGRAMS
A Pedigree Chart/diagram is a chart which tells someone all of the known phenotypes for an
organism and its ancestors, most commonly humans, show dogs, and race horses. The word
pedigree is a corruption of the French "pied de grue" or crane's foot, because the typical lines and
split lines (each split leading to different offspring of the one parent line) resembling the thin leg
and foot of a crane. It can show the occurrence of a characteristic in a family tree. It can be used to
show possible genotypes, which can be used for genetic counseling. Genetic counseling is the
process by which patients or relatives, at risk of an inherited disorder, are advised of the

consequences and nature of the disorder, the probability of developing or transmitting it, and the
options open to them in management and family planning in order to prevent, avoid or ameliorate
it. This complex process can be seen from diagnostic (the actual estimation of risk) and supportive
aspects

It is a pedigree tracing a genetic trait called A.

The genotypes are listed for individuals where known, and a key is included

The family represented by Pedigree 1 is a good example of how autosomal dominant

diseases appear in a pedigree. Each of the four hallmarks of autosomal dominant inheritance are

fulfilled. Each affected individual has an affected parent; there is no skipping of generations.
Males and females are equally likely to be affected. About 1/2 of the offspring of an affected
individual are affected (the recurrence risk is 1/2). Normal siblings (II-3) of affected individuals
have all normal offspring. Low density lipoprotein receptors are structural proteins or
polypeptides, not enzymes. If III-1, an affected female, were to produce a child that child would
have a 1/2 chance of being normal and a 1/2 chance of being affected. If her normal brother, III2, were to produce a child that child would have a nearly 0 chance of being affected.