ST.

ANTONY’S PUBLIC
SCHOOL

BIOL
OGY PEDIGREE ANALYSIS
TOPIC:

DONE BY,
SANKAR S
XI-C
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 TABLE OF CONTENTS
S.N TOPIC PAGE
O NO

1. ACKNOWLEDGEMENT 3

2. ABSTRACT 4
3. MENDELIAN INHERITANCE 5

4. MENDELIAN INHERITANCE 8
PATERNSAND GENETIC DISORDERS
5. PEDIGREE CHART AND ITS 10
ANALYSIS
6. ANALYSIS OF MY FAMILY PEDIGREE 13

7. CONCLUSION 24
9. BIBILOGRAPHY 25

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 ACKNOWLEGEMENT
I WOULD LIKE TO EXPRESS MY
SPECIAL THANKS OF GRATITUDE
TO MY BIOLOGY TEACHER
“MRS.NIVETHA” FOR THEIR ABLE
GUIDANCE AND SUPPORT IN
COMPLETING MY PROJECT.
I WOULD ALSO LIKE TO
EXTEND MY GRATITUDE to our
correspondent, principal who has created a
nurturing and creative environment in our
school
Sankar s
xi-c

Abstract
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 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
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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.
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

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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

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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.

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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
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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 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
Pedigree Chart And Its Analysis
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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,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.
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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
• 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

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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
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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
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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
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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
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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
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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:
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 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).

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 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
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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
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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 hitchhiker’s thumb. They have a son
(person 4 of generation III: my cousin) who
naturally possesses the hitchhiker’s 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 Mendel’s 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

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BIBLIOGRAPHY
• Class XI practical textbook .
•http://en.wikipedia.org/wiki/Benedict
%27s_reagent

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