TOPIC – MENDELIAN INHERITANCE

AND DISORDER

NAME – AKANKSHA TIWARI

CLASS - XII
SECTION – SCIENCE
ROLLNO –
SESSION – 2019-2020

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 CERTIFICATE
This is to certify that project entitled
“MENDELIAN INHERITANCE AND
DISORDER” submitted to the biology department
of KHALSA MODEL SENIOR SECONDARY
SCHOOL for fulfilling AISSCE. Biology practical
examination 2019-2020 as a record of original work
by AKANKSHA TIWARI during her studies under
the department of biology under the guidance of
respective teachers.

SIGNATURE SIGNATURE
(EXTERNAL EXAMINER) (INTERNAL EXAMINER)

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ACKNOWLEDGEMENT
I would like to express my special thanks of gratitude to
my teacher Mrs. MANICHHANDA MISHRA who gave
me the opportunity to do this wonderful project on the
topic “MENDELIAN INHERITANCE AND
DISORDER” which also helped me in doing a lot of
research and I came to know about so many things. I am
very thankful to them.
Secondly, I would also like to thank my parents and
friends who helped me a lot in completing this project
within the limited time.

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 INDEX
Serial number Page
TOPIC No.
1. INTRODUCTION
2. MENDELIAN
INHERITANCE

3. MENDEL’S
LAW
4. MENDELIAN
GENETIC
DISORDERS
4(a) Autosomal
dominant

4(b) Autosomal
recessive
4(c) Sex-linked or X-
linked
inheritance
5 MENDELIAN
INHERITANCE
PATTERNS

10.
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INTRODUCTION
Genetics is the study of genes, heredity, and variation in living
organisms. It is generally considered a field of biology, but it
intersects frequently with many of the life sciences and is
strongly linked with the study of information systems.
The father of genetics is Gregor Mendel, a scientist and
Augustinian friar. Mendel studied 'trait inheritance,' patterns in
the way traits were handed down from parents to offspring. He
observed that organisms (pea plants) inherit traits by way of
discrete "units of inheritance". This term, still used today, is a
somewhat ambiguous definition of what is referred to as a gene.

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 GREGOR MENDEL

MENDELIAN INHERITANCE
Mendelian inheritance is inheritance of biological features that
follows the laws proposed by Gregor Johann Mendel in 1865
and 1866 and re-discovered in 1900. It was initially very
controversial. When Mendel's theories were integrated with the
chromosome theory of inheritance by Thomas Hunt Morgan in
1915, they became the core of classical genetics.

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 Mendel’s laws
Mendel's law of segregation describes what happens to the
alleles that make up a gene during formation of gametes. For
example, suppose that a pea plant contains a gene for flower
colour in which both alleles code for red. One way to represent
that condition is to write RR, which indicates that both alleles (R
and R) code for the colour red. Another gene might have a

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different combination of alleles, as in Rr. In this case, the
symbol R stands for red colour and the r for "not red" or, in this
case, white. Mendel's law of segregation says that the alleles that
make up a gene separate from each other, or segregate, during
the formation of gametes. That fact can be represented by simple
equations, such as: RR → R + R or Rr → R + r Mendel's second
law is called the law of independent assortment. That law refers
to the fact that any plant contains many different kinds of genes.
One gene determines flower colour, a second gene determines
length of stem, and a third gene determines shape of pea pods,
and so on. Mendel discovered that the way in Page 8 which
alleles from different genes separate and then recombine is
unconnected to other genes. That is, suppose that a plant
contains genes for colour (RR) and for shape of pod (TT). Then
Mendel's second law says that the two genes will segregate
independently, as: RR → R + R and TT → T + T Mendel's third
law deals with the matter of dominance. Suppose that a gene
contains an allele for red colour (R) and an allele for white
colour (r). What will be the colour of the flowers produced on
this plant? Mendel's answer was that in every pair of alleles, one
is more likely to be expressed than the other. In other words, one
allele is dominant and the other allele is recessive. In the
example of an Rr gene, the flowers produced will be red because
the allele R is dominant over the allele r.

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MENDELIAN GENETIC
DISORDERS
Within a population, there may be a number of alleles for a
given gene. Individuals that have two copies of the same allele
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are referred to as homozygous for that allele; individuals that
have copies of different alleles are known as heterozygous for
that allele. The inheritance patterns observed will depend on
whether the allele is found on an autosomal chromosome or a
sex chromosome, and on whether the allele is dominant or
recessive.

(A) Autosomal dominant

If the phenotype associated with a given version of a gene is observed when an
individual has only one copy, the allele is said to be autosomal dominant. The
phenotype will be observed whether the individual has one copy of the allele (is
heterozygous) or has two copies of the allele (is homozygous).

Myotonic dystrophy
Myotonic dystrophy is part of a group of inherited disorders called muscular
dystrophies. It is the most common form of muscular dystrophy that begins in
adulthood. Myotonic dystrophy is characterized by progressive muscle wasting and
weakness. People with this disorder often have prolonged muscle contractions

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(myotonia) and are not able to relax certain muscles after use. For example, a
person may have difficulty releasing their grip on a doorknob or handle. Also,
affected people may have slurred speech or temporary locking of their jaw.
Inheritance Pattern
Both types of myotonic dystrophy are inherited in an autosomal dominant pattern,
which means one copy of the altered gene in each cell is sufficient to cause the
disorder. In most cases, an affected person has one parent with the condition.
As myotonic dystrophy is passed from one generation to the next, the disorder
generally begins earlier in life and signs and symptoms become more severe. This
phenomenon, called anticipation, has been reported with both types of myotonic
dystrophy.

(b) Autosomal recessive

If the phenotype associated with a given version of a gene is observed only when
an individual has two copies, the allele is said to be autosomal recessive. The
phenotype will be observed only when the individual is homozygous for the allele
concerned. An individual with only one copy of the allele will not show the
phenotype, but will be able to pass the allele on to subsequent generations. As a
result, an individual heterozygous for an autosomal recessive allele is known as a
carrier

Sickle cell disease

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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.

Inheritance pattern
This condition is inherited in an autosomal recessive pattern, which means both
copies of the gene in each cell have mutations. The parents of an individual with an
autosomal recessive condition each carry one copy of the mutated gene, but they
typically do not show signs and symptoms of the condition.

(C) Sex-linked or X-linked inheritance

In many organisms, the determination of sex involves a pair of chromosomes
that differ in length and genetic content - for example, the XY system used in
human beings and other mammals. The X chromosome carries hundreds of
genes, and many of these are not connected with the determination of sex.
The smaller Y chromosome contains a number of genes responsible for the
initiation and maintenance of maleness, but it lacks copies of most of the
genes that are found on the X chromosome. As a result, the genes located on
the X chromosome display a characteristic pattern of inheritance referred to

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as sexlinkage or X-linkage. Females (XX) have two copies of each gene on
the X chromosome, so they can be heterozygous or homozygous for a given
allele. However, males (XY) will express all the alleles present on the single
X chromosome that they receive from their mother, and concepts such as
'dominant' or 'recessive' are irrelevant. A number of medical conditions in
humans are associated with genes on the X chromosome, including
haemophilia, muscular dystrophy and some forms of colour blindness.

Hemophilia
Hemophilia is a bleeding disorder that slows the blood clotting process. People
with this condition experience prolonged bleeding or oozing following an injury,
surgery, or having a tooth pulled. In severe cases of hemophilia, continuous
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 necessarily
involve spontaneous bleeding, and the condition may not become apparent until
abnormal bleeding occurs following surgery or a serious injury.

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Inheritance pattern
Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern. The
genes associated with these conditions are located on the X chromosome, which is
one of the two sexchromosomes. In males (who have only one X chromosome),
one altered copy of the gene in each cell is sufficient to cause the condition. In
females (who have two X chromosomes), a mutation would have to occur in both
copies of the gene to cause the disorder. Because it is unlikely that females will
have two altered copies of this gene, it is very rare for females to have hemophilia.
A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits
to their sons.In X-linked recessive inheritance, a female with one altered copy of
the gene in each cell is called a carrier. Carrier females have about half the usual
amount of coagulation factor VIII or coagulation factor IX, which is generally
enough for normal blood clotting

MENDELIAN INHERITANCE
PATTERNS

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 (A) CHARACTERISTIC 1:
PRESENCE OF ATTACHED EARLOBE
The earlobe character of whether it remains attached to
the head or remains free such that its end hangs down
from point of attachment is a characteristic inherited from
our ancestors (parents, grandparents etc). The presence of
an attached ear lobe is due to a recessive autosomal allele
pair or gene and the presence of free earlobe is due to a
dominant gene.

(B) CHARACTERISTIC 2:
TONGUE ROLLER

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This is the particular ability to roll the tongue into ‘u’
shaped tube. This ability arises due to the presence of a
dominant gene (may be homozygous or heterozygous). It
is an inherited characteristic and follows the Mendelian
laws of inheritance. Non rollers are homozygous
recessive.

(C) CHARACTERISTIC 3 :
INTERLACED FINGERS .

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 On interlacing the fingers of our hands the way in which our
thumbs are crossed is controlled by an inherited gene. It follows
the Mendelian Laws of inheritance. If the left thumb covers the
right it means that the person has a homozygous dominant or
heterozygous allele pair. Whereas if the right thumb covers left
it means the person has homozygous recessive gene.

(D) CHARACTERISTIC 4:
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 HITCHHIKERS THUMB
Hitchhikers thumb is a kind of bent thumb that a person
possesses. It is seen when a person gives a thumbs up! to some
one. If the thumb is straight a dominant gene either homozygous
or heterozygous (i.e. SS or Ss) is indicated. The bent thumb is
the hitchers thumb and people with such thumb have
homozygous recessive gene (ss).

CONCLUSION
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 Gregor Mendel the father of genetics postulated his three
Laws of Inheritance, which eventually became the basis
of modern day genetics.
These laws namely “Law of Dominance”, “Law of
Segregation” & “Law of Independent Assortment” can be
used to analyse types of genetic disorders and inheritance
patterns.
On the whole genetics, an endless study has helped us,
human beings to understand ourselves in way that is
unimaginable. The vastness of this study is far greater
than anything known to man and now as this study
deepens into the vastness perhaps there is hope in the
future for a society free from any kind of disease and
sufferings.
Who knows, one day it may even provide us with answers
to questions about our origin.

BIBLIOGRAPHY
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Following books and websites were a source
for my project –

1. www.Google.com
2. www.Wikipedia.com
3. www.scribd.com
4. Google Images

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