Table of Contents
Aim ....................................................................................2
Theory................................................................................3
Requirements: ....................................................................4
Procedure:..........................................................................5
EXPLANATION OF TRAITS .................................................6
What is X-linked inheritance? ..........................................6
COLOUR BLINDNESS ........................................................8
HAEMOPHILIA ...................................................................9
Observation: ....................................................................12
Result: .............................................................................12
Precautions: .....................................................................12
Aim
To study the prepared pedigree chart of genetic
trait such as colour blindness and haemophilia.
Theory
The principle of inheritance traits which was given by
Mendel were applicable to plants, animals and
human beings.
But the type of crossing done on plants and animals
cannot be performed on humans.
So, a record of inheritance of certain genetic traits for
two or more generations in the form of a diagram or a
family tree called pedigree chart is prepared.
The Mendelian concept of dominance of genes and
segregation of characters in subsequent generation
can be studied by this method.
Few internationally approved symbols used in this
analytic al study are as follows:
Requirements:
A family with genetic disorder for more than one
generation, pedigree chart.
Procedure:
1. A family selected with a monogenetic trait, such as
colour blindness and haemophilia.
2. Questions were asked to the family members.
3. Trait examined among the surviving individuals.
4. The information made available was the basis for
the preparation of pedigree chart using
appropriate symbols.
5. The careful examination of chart would suggest
the gene for the character is X-linked recessive
trait.
Explanation Of Traits
Genes are inherited from our biological parents in
specific ways. One of the basic patterns of inheritance of
our genes is called X-linked recessive inheritance.
What is X-linked inheritance?
X-linked inheritance means that the gene causing the trait
or the disorder is located on the X chromosome.
Females have two X chromosomes; males have one X and
one Y. Genes on the X chromosome can be recessive or
dominant.
Their expression in females and males is not the same.
Genes on the Y chromosome do not exactly pair up with
the genes on the X chromosome.
X-linked recessive genes are expressed in females only if
there are two copies of the gene (one on each X
chromosome).
However, for males, there needs to be only one copy of an
X-linked recessive gene in order for the trait or disorder to
be expressed.
For example, a woman can carry a recessive gene on one
of the X chromosomes unknowingly, and pass it on to a
son, who will express the trait: There is a 50 percent
chance that daughters carry the gene and can pass it to
the next generation.
There is a 50 percent chance that a daughter will not carry
the gene and, therefore, cannot pass it on.
There is a 50 percent chance that sons do not have the
gene and will be healthy.
However, there is a 50 percent chance that a son will have
inherited the gene and will express the trait or disorder
.
Examples of X-linked recessive conditions include red-
green color blindness and hemophilia A:
COLOUR BLINDNESS
Color blindness, also known as color vision deficiency, is
the decreased ability to see color or differences in color.
Simple tasks such as selecting ripe fruit, choosing
clothing, and reading traffic lights can be more
challenging.
Color blindness may also make some educational
activities more difficult.
However, problems are generally minor, and most people
find that they can adapt. People with total color
blindness(achromatopsia) may also have decreased
visual acuity and be uncomfortable in bright
environments.
The most common cause of color blindness is an inherited
problem in the development of one or more of the three
sets of color-sensing cones in the eye.
Males are more likely to be color blind than females, as
the genes responsible for the most common forms of color
blindness are on the X chromosome.
As females have two X chromosomes, a defect in one is
typically compensated for by the other, while males only
have one X chromosome.
Color blindness can also result from physical or chemical
damage to the eye, optic nerve or parts of the brain.
Diagnosis is typically with the Ishihara color test;
however, a number of other testing methods, including
genetic testing, also exist.
Red-green color blindness is the most common form,
followed by blue-yellow color blindness and total color
blindness.
Red-green color blindness affects up to 8% of males and
0.5% of females of Northern European descent. The
ability to see color also decreases in old age.
Being color blind may make people ineligible for certain
jobs in certain countries. This may include being a pilot,
train driver, crane operator, and working in the armed
forces.
The effect of color blindness on artistic ability, however,
is controversial.
The ability to draw appears to be unchanged, and a
number of famous artists are believed to have been color
blindness.
HAEMOPHILIA
Haemophilia is a mostly inherited genetic disorder that
impairs the body's ability to make blood clots, a process
needed to stop bleeding.
This results in people bleeding longer after an injury,
easy bruising, and an increased risk of bleeding inside
joints or the brain.
Those with a mild case of the disease may have
symptoms only after an accident or during surgery.
Bleeding into a joint can result in permanent damage
while bleeding in the brain can result in long term
headaches, seizures, or a decreased level of
consciousness.
There are two main types of haemophilia: haemophilia A,
which occurs due to not enough clotting factor VIII,
and haemophilia B, which occurs due to not enough
clotting factor IX.
They are typically inherited from one's parents through
an X chromosome with a nonfunctional gene.
Rarely a new mutation may occur during early
development or haemophilia may develop later in life due
to antibodies forming against a clotting factor.
Prevention may occur by removing an egg, fertilizing it,
and testing the embryo before transferring it to
the uterus.
Treatment is by replacing the missing blood clotting
factors. This may be done on a regular basis or during
bleeding episodes.
Replacement may take place at home or in hospital.
The clotting factors are made either from human blood or
by recombinant methods. Up to 20% of people
develop antibodies to the clotting factors which makes
treatment more difficult.
The medication desmopressin may be used in those with
mild haemophilia A. Studies of gene therapy are in early
human trials.
Haemophilia A affects about 1 in 5,000–10,000, while
haemophilia B affects about 1 in 40,000, males at
birth. As haemophilia A and B are both X-linked recessive
disorders, females are rarely severely affected.
Some females with a nonfunctional gene on one of the X
chromosomes may be mildly symptomatic.
Haemophilia C occurs equally in both sexes and is mostly
found in Ashkenazi Jews.
In the 1800s haemophilia B was common within the royal
families of Europe.
The difference between haemophilia A and B was
determined in 1952.
Observation:
The interrogated families showed the characteristics
symptoms of the X- linked recessive disorder inferred in
the studies undertaken for the pedigree analysis.
Result:
The families studied showed the transmission of traits
responsible for X-linked recessive disease in the
successive generations in each category.
Precautions:
1. The prior knowledge of genetic disorder is must to
identify the presence of a particular disorder in pedigree
analysis
2. Family history of atleast 3-4 generations must be known.
