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
S.NO. TOPIC PAGE
NO.
1. INTRODUCTION 5

2. MENDELIAN INHERITANCE 6

3. MENDEL’S LAW 7-8

4. MENDELIAN GENETIC DISORDERS 9-13

4.(a) AUTOSOMAL DOMINANT 10

4.(b) AUTOSOMAL RECESSIVE 11

4.(c) Sex-linked or X-linked inheritance 12-13

5. MENDELIAN INHERITANCE PATTERNS 14-17

5.(A) CHARACTERISTIC 1: PRESENCE OF 14

ATTACHED EARLOBE

5.(B) CHARACTERISTIC 2: TONGUE ROLLER 15

5.(C) CHARACTERISTIC 3 :INTERLACED 16

FINGERS

5.(D) CHARACTERISTIC4:HITCHHIKERS 17
THUMB

6. CONCLUSION 18

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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.

GREGOR MENDEL

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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 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

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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 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.

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 (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 (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.

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(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

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.

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 (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 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.

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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.

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

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MENDELIAN INHERITANCE
PATTERNS

(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.

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 (B) CHARACTERISTIC 2:
TONGUE ROLLER
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.

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 (C) CHARACTERISTIC 3 :
INTERLACED FINGERS .

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.

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 (D) CHARACTERISTIC 4:
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).

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CONCLUSION
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.

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 BIBLIOGRAPHY
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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