CERTIFICATE

This is to certify that Mr./Miss ...

has
satisfactorily completed the project in chemistry prescribed by
. in the year ..
Date:
Name of the candidate:

Signature of the

Teacher In charge

Registration No:
.
Examination centre:

Signature of the

Principal

Date of practical exam:

.
Signature of the
External examiner

Page 1

SHISHYA BEML PUBLIC

SCHOOL
V.BHARATH RAJ
CLASS XII
BIOLOGY PROJECT

Page 2

PEDIGREE ANALYSIS

Page 3

ACKNOWLEDGEMENT
I would like to express my sincere gratitude to my biology
mentor DEEPTHI RAKESH for her vital support,
guidance and encouragement without which this project
would not have come forth from my side.
I would also like to express my heartily gratitude to the lab
assistant HAJIRA NOOR for their support during the
making of this project.
I wish to thanks my parents for their undivided support
and encouraged me to go my own way, without which I
would be unable to complete my project.

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INDEX
SERIAL
NUMBER

TOPIC

PAGE
NO

1.

INTRODUCTION

2.
3.

7
9

4.

MENDELIAN INHERITANCE
MENDELIAN INHERITANCE PATTERNS AND
DISORDERS
PEDIGREE CAHRT AND ITS ANALYSIS

11

5.

ANALYSIS OF FAMILY PEDIGREE

13

6.

14

7.

CHARACTERISTIC 1:PRESENCE OF
ATTACHED EAR LOBE
CHARACTERISTIC 2:TONGUE ROLLER

8.

CHARACTERISTIC 3:INTERLACED FINGERS

18

9.

CHARACTERISTIC 4:HITCHHIKERS THUMB

20

10.

CONCLUSION

22

11.

BIBLIOGRAPHY

23

Page 5

16

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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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.

Mendels 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
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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 INHERITANCE
PATTERNS AND 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.

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).

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.
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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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PEDIGREE CHART AND ITS

ANALYSIS
A pedigree chart is a diagram that shows the occurrence and
appearance or phenotypes of a particular gene or organism and
its ancestors from one generation to the next, most
commonly humans, show dogs,[4]and race horses.
Pedigree analysis is also useful when studying any population
when progeny data from
several generations is
limited. Pedigree analysis
is also useful when
studying species with a
long generation time.
A series of symbols are
used to represent different
aspects of a pedigree. To
the right are the principal
symbols used when
drawing a pedigree.

Once phenotypic data is collected from several generations and

the pedigree is drawn, careful analysis will allow you to determine
whether the trait is dominant or recessive. Here are some rules to
follow.
For those traits exhibiting dominant gene action:

affected individuals have at least one affected parent

the phenotype generally appears every generation
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two unaffected parents only have unaffected offspring

The following is the pedigree of a trait controlled by dominant

gene action.

And for those traits exhibiting recessive gene action:

unaffected parents can have affected offspring

affected progeny are both male and female

To the right is the pedigree of a trait controlled by recessive gene

action.

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ANALYSIS OF MY FAMILY
PEDIGREE

Page 13

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.

COMMENTS:
In the adjoining pedigree (of my family) it is observed that
in the first generation person 1(grandpa) and person 2(grandma)
have free earlobes therefore genotypically both of them have a
dominant allele for this characteristic. In the next generation it is
seen that one of their sons (Person5: my 2nd uncle) has attached
earlobes making him homozygous recessive (i.e.ee) and
indicating that both the persons of first generation (i.e. Grandma
and grandpa) were heterozygous (i.e. Ee). Their other four sons
and the daughter remain heterozygous (Ee) or homozygous
dominant thus possessing free ear lobes. Person 1(of generation
II) gets married to person 2 who phenotypically has free earlobes
(thus genotipically Ee or EE).They have a daughter (person 1 of
generation III: my cousin) who again has free ear lobes hence
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genotipically Ee or EE. Person 3 and 7 (of generation II: my

father and 3rd uncle) get married to person 4 and 8 of
(generation II: my mother and 3rd aunt) respectively who have
attached earlobes hence genotipically ee. Persons 3and 4 (of
generation II) have two sons (persons 2 and 3 of generation III:
me and my brother) out of this person 2 (me) has attached
earlobe making him genotipically ee (homozygous recessive),
While his brother (person 3 of generation III) has free earlobes
thus making him genotipically Ee (homozygous dominant).
Similarly persons 5 and 6 (of generation II) have two sons
(persons 5 and 6 of generation III: my cousins) .Out of this person
5 has attached ear lobe hence making him homozygous
recessive (i.e. ee) and his brother (person 6, generation III) is
heterozygous dominant (Ee).person 5 (generation II: my second
uncle) gets married to person 6(generation III: second aunt) who
has free earlobes hence making her homozygous or
heterozygous dominant. They have a son (person 4 generation
III: my second cousin) who has free ear lobes and hence is
heterozygous recessive (Ee). Person 9 (generation III: my aunt)
gets married to person 10 (generation III) who is homozygous
recessive (ee) as he has fused earlobe, they have two children
person (7 and 8 of generation III: my 7th and 8th cousins) who
happen to have free earlobes hence are homozygous dominant
(EE) or heterozygous (Ee).

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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.

COMMENTS:
In the adjoining pedigree, we can observe person 1 (of
generation I: my grandfather) is unable to roll his tongue hence
he is homozygous recessive (rr).Person 2 of generation I (my
grandmother) posses the ability to roll her tongue, hence she may
be homozygous dominant or heterozygous. In the second
generation it is observed that out of the six progenies, person 1
and 11 (my fist and 6th uncle) are unable to roll their tongue and
the others posses this ability hence confirming two things:
Person 2 of first generation (grandma) is heterozygous
dominant (Rr).
Persons 1 and 2 (of generation II: my uncles) are
homozygous recessive (rr). Persons 3, 5, 7 and 9 of
generation II are heterozygous (i.e. Rr).
In second generation person 1 gets married to person 2 who is
homozygous dominant (RR, able to roll the tongue) and have a
daughter person1 (of generation III: my cousin) who naturally is a
tongue roller and hence heterozygous dominant (Rr). Person 3
(of generation II: my father) marries person 4 (of generation II: my
Page 16

mother) who is heterozygous dominant (Rr). They have 2

children (person 2 and 3 of generation III: me and my brother).
Out of this person 2 (of generation III: me) is a non roller and
hence homozygous recessive (rr), while his brother (person 3,
generation III) is a tongue roller and hence heterozygous
dominant (Rr). Person 5 (of generation II: my uncle) gets married
to person 6 (of generation II: my aunt) who is a non roller and
hence homozygous recessive ( rr). They have a son who is also
a non - roller and hence his homozygous recessive (rr). Person
7(of generation II) gets married to person 8 who is homozygous
dominant (RR, a Tongue roller). They have 2 sons (persons 5 &
6 of generation III), both of them being tongue rollers may be
homozygous dominant (RR) or heterozygous (Rr). Person 9 (of
generation III: my aunt) gets married to person 10(of generation
III) who is a non roller and hence homozygous recessive (rr).
They have 2 children out of which, progeny one i.e., person 7 of
generation III is a tongue roller and hence heterozygous
dominant (Rr) while her brother (person 8, generation III) is non
roller and hence homozygous recessive (rr).

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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.

COMMENTS:
In the adjoining pedigree person 1 of generation I (grandfather),
shows homozygous recessive trait (ff) as his right thumb covers
over his left. However person 2(of generation 1: my grandmother)
shows a dominant gene as her left thumb over laps her right. She
must be heterozygous as three of her six children show recessive
trait, i.e., persons 1, 5, 7 (of generation II: my uncles) show
homozygous recessive trait (ff).
Person 1(of generation II: my uncle) gets married to persons 2(of
generation II: my aunt) whose right thumb overlaps the left hence
she is homozygous recessive (ff).They have a daughter (person
1 of generation III: my cousin) who is also obviously homozygous
recessive (ff). Person 3(of generation II: my father) who is
heterozygous (Ff) marries person 4(of generation II: my mother)
whose right thumb overlaps the left; hence she is homozygous
recessive (ff). They have two children (person 2&3 of generation

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III: me and my brother), both of them are homozygous recessive

(f f).
Person 5 (of generation II: my uncle) who is homozygous
recessive marries person 6 (of generation II: my aunt) whose left
thumb overlaps her right, making her homozygous dominant
(FF).They have a son (person 4 of generation III) whose left
thumb overlaps the right making him heterozygous(Ff) .
Person 7 (of generation II) who is homozygous recessive
marries person 8(of generation III: my aunt) whose left thumb
overlaps her right hence making her homozygous dominant
(FF).This is evident from the fact that both of her children (person
5&6 of generation III: my cousins) appear to be heterozygous (Ff)
as for both of them their left thumb overlaps their right.
Persons 9 (of generation II: my aunt) who appears to be
homozygous dominant (FF) gets married to person 10 (of
generation II: my uncle) who also appears to be homozygous
dominant (FF).They have two children (persons 7&8: my cousins)
who are also naturally homozygous dominant (FF).

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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).

Comments:
In the adjoining pedigree we see that person 1 of generation I
(my grandfather) possesses the hitchhikers thumb as he is
homozygous recessive (ss). She marries person 2 (my
grandmother) who as a straight thumb. She may hence be
heterozygous/ homozygous dominant (Ss/ss). However it is
evident that she is heterozygous as out of their 6 children
persons 3, 5, 9,) possess the hitchhikers thumb and hence are
homozygous recessive (ss)
Out of this person 9(of generation II: my aunt) marries
person 10(of generation II: my uncle) who also possess
hitchhikers making him homozygous recessive (ss). They have 2
children (person 7&8 of generation: III) who are also evidently
homozygous recessive (ss) and hence possess hitchhikers
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thumb. Person 7 (of generation II) who is heterozygous (Ss)

marries person 8 who is homozygous recessive (ss) possessing
hitchhikers thumb. They have 2 children out of which their first
child (person 5 of generation III: my cousin) is homozygous
recessive (ss) as he has the hitchhikers thumb while his brother
is heterozygous (Ss) as he has a straight thumb.
Person 1(of generation II: my uncle) who is heterozygous (Ss)
gets married to person 2(of generation III) who also possesses a
straight thumb and hence is heterozygous (Ss). They have a
daughter (person 1 of generation III) who has a hitchhikers
thumb and hence as a homozygous recessive genotype (ss).
Person 3(of generation II: my father) possesses the hitchhikers
thumb and hence is homozygous recessive (ss).He marries
person 4 (of generation II: my mother) who has a straight
thumb. It is clearly evident that person 4 of generation II is
heterozygous as one her children (person 2 of generation III:
me) is homozygous recessive (ss) while his brother (person 3,
generation III) is heterozygous dominant and hence shows
straight thumb.
Person 5(of generation II: my uncle) being homozygous
recessive (ss) gets married to person 6(of generation II: my
aunt) who is also homozygous recessive (ss), i.e. both of them
possess the hitchhikers thumb. They have a son (person 4 of
generation III: my cousin) who naturally possesses the
hitchhikers thumb, so he has a homozygous recessive gene (ss)
straight thumb and he is heterozygous dominant.
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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.
Pedigree charts, made based on Mendels Laws can be
used to analyze and study Inheritance patterns of
different genes in a family hence helping in diagnosing
and curing several genetic disorders.
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
Page 22

BIBLIOGRAPHY

Source: WIKIPEDIA.ORG
DK WORLD MAGAZINE

Page 23