KENDRIYA

VIDYALAYA
VAYU SENA
NAGAR
ARINDAM MISHRA
CLASS XII-C

BIOLOGY
PROJECT
PEDIGREE
ANALYSIS
Certificate
NAME : ARINDAM MISHRA
CLASS : XII C
ROLL NO. :12343
INSTITUTION : KENDRIYA
VIDYALAYA VAYU SENA NAGAR
This is certified to be the bonafide
work of the student in the

BIOLOGY INVESTIGATORY PROJECT

during the year 2016 / 2017 .

(Teacher In-Charge)

(SCHOOL
SEAL)

(Examiner)

(Principal)

ACKNOWLEDGEMENT
I would like to express my sincere gratitude to my
biology mentor R. KOCHE for her vital
support, guidance and encouragement without
which this project would not have come forth
from my side.
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.

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.

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
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.

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.

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 sex-linkage or Xlinkage.
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.

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
dominant gene

exhibiting
action:

affected
have at
affected

individuals
least one
parent

the
generally
generation

phenotype
appears every

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.

ANALYSIS OF MY
FAMILY
PEDIGREE

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 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).

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
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).

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 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).

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 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.

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

BIBLIOGRAPHY

Source:
WIKIPEDIA.ORG

DK WORLD MAGAZINE