PEDIGREE

ANALYSIS

SHAKURAH O

[COMPANY NAME] | [COMPANY ADDRESS]

CERTIFICATE
This is to certify that this “Biology
Investigatory project” on the topic
“PEDIGREE ANALYSIS” has been
successfully completed by SHAKURAH O
of class 12-B under the guidance of MRS
SRAVYA in particular fulfilment of the
curriculum of CENTRAL BOARD OF
SECONDARY EDUCATION {CBSE}
leading to the award of annual
examination of the year 2024-25

1
ACKNOWLEDGEMENTS
I have taken efforts in this project. However, it would
not have been possible without the kind support and
help of many individuals.
I would like to thank my principal SREENIVASA RAO
MADALA and school for providing me with facilities
required to do my project.
I am highly indebted to my Biology teacher, Mrs
SHRAVYA , for her invaluable guidance which has
sustained my efforts in all the stages of this project
work.
I would also like to thank my parents for their
continuous support and encouragement.
My thanks and appreciations also go to my fellow
classmates and the laboratory assistant in
developing the project and to the people who have
willingly helped me out with their abilities.

2
s.no. CONTENT PAGE NO.
1. INTRODUCTION 4
2. WHAT IS PEDIGREE ANALYSIS 5
3. PEDIGREE ANALYSIS-DIAGRAM 7
4. TYPES OF PEDIGREE ANALYSIS. 10
5. GENES AND ALLELES. 11
6. AUTOSOMAL DOMINANT PEDIGREE. 12
7. AUTOSOMAL RECESSIVE PEDIGREE. 14
8. X-LINKED DOMINANT INHERITANCE. 16
9. X-LINKED RECESSIVE INHERITANCE. 18
10. Y-LINKED 20
11. RULES OF PEDIGREE ANALYSIS 22
12. GOALS OF PEDIGREE ANALYSIS. 24
13. CONCLUSION. 26
14. BIBLIOGRAPHY 27

3
 INTRODUCTION
Gregor Mendel worked on the principles of
inheritance in genetics a long time ago. His
work helped from the fundamentals of
genetics and inheritance patterns in living
organisms. Later, scientists developed
another approach to help us understand the
inheritance of genes in living organisms. This
approach is known as the PEDIGREE ANALYIS.
Let’s now know about pedigree analysis and
how it helps predict genetic diseases.

4
WHAT IS PEDIGREE ANALYSIS ?

Pedigree analysis was developed to understand the

inheritance of genes from parents to offspring. It was
developed as a chart that can represent a family tree
along with the family members and their genetic
traits, respectively.

Gregor Mendel’s experiments showed that the

“FACTORS” that we now know as “GENES”, are the
factors which are responsible for the inheritance of
traits from parents to offspring.

Therefore, genes are the hereditary unit of organisms

which are responsible for carrying the information
from the parents to their offspring. These genes are
responsible for the characteristics of a living organism
and can also be the reason for some disorders present
in them.

5
These conclusions are based on the evidence
provided by the controlled cross experiments in pea
plants and other organisms. Since we can’t perform
similar experiments on human populations due to
ethical reasons, we formed pedigree analysis to study
the pattern of the inheritance even when we have
limited data.

Mendelian disorders are the hereditary diseases which

are governed in their transmissions by the rules of
Mendelian genetics. Therefore, by performing
pedigree analysis of an individual’s family, it is
possible to know if one is likely to suffer from a
genetic disease.

6
PEDIGREE ANALYSIS – DIAGRAM

A family tree can be represented by a pedigree chart

with all the members of a family. They may be having
a genetic disorder or maybe a carrier of the disease. In
the pedigree analysis, standard symbols are used to
distinguish between different families.

7
Here is a diagrammatic representation of a pedigree chart.

DESCRIPTION
• Here, the rows represent the generations of a
family, squares represent males, and circles
represent females. Individuals on the same row
belong to the same generation.

8
• A marriage or mating is represented as a
horizontal bar between the square and the circle.
Likewise, a double bar between the symbols
indicates a consanguineous mating or marriage.
• The offsprings are indicated by a suspending
vertical line drawn perpendicular to the horizontal
bar or marriage bar.
• The homozygous individuals are represented as
fully shaded symbols. Whereas heterozygous
individuals are just carriers and are represented
by half-shaded symbols.
• A normal or natural genotype is denoted as wild
type. Unshaded squares and circles indicate the
normal or “unaffected” individuals.
• Usually, the carrier of a sex-linked recessive gene
is represented by a black spot in the middle of
the symbol.
• Sometimes, a particular affected individual who is
being interviewed or who bought the trait to the
geneticists is indicated by a pointing arrow. Such
members are termed, propositus.
9
TYPES OF PEDIGREE ANALYSIS
Based on linked chromosomes, pedigree analysis is
classified into:
1.Sex-linked pedigree
It is subdivided into:
• X-linked pedigree
• Y-linked pedigree
Even the x-linked pedigree is further divided into
• X-linked dominant pedigree
• X-linked recessive pedigree
2.Autosomal pedigree
It is subdivided into:
• Autosomal dominant pedigree
• Autosomal recessive pedigree

10
GENES AND ALLELES
• If the mother and father are both dominant, the children
might show recessive traits
• This is because one copy of the gene is from the mother
and the other from the father
• Different forms of a gene, such as whether hair curls or
not, are called alleles
• Dominant alleles are represented by Q (capital), while
recessive alleles are represented by q (small)
• An individual’s collection of genes is called a genotype
Here are some of the genotypes:
1. QQ = dominant
2. Q = dominant
3. Q = recessive
• A person with QQ and Qq genotypes has curly hair
• A person with qq will have curly hair
• QQ and qq are known as homozygous, and the person
with the genotype Qq is heterozygous; they are usually
considered carriers and are represented by a dot or shaded

11
AUTOSOMAL DOMINANT PEDIGREE
It illustrates the inheritance pattern of a trait or
disorder that is passed down through generations on
a non-sex chromosome (autosome).
AFFECTED INDIVIDUALS: An affected individual
typically has at least one affected parent. The trait
can appear in every generation.
TRANSMISSION: females and males are affected with
the same frequency and therefore can transmit the
trait to female and male offspring equally
INHERITANCE PATTERN: there is a 50% chance that
any child of the affected individual will also be
affected regardless of whether the child is male or
female
UNHERITED INDIVIDUALS: if both parents do not
exhibit the trait, all of their children will also exhibit
the trait.
CARRIER STATUS: in typical autosomal dominant
inheritance, no carries (individuals known to carry the

12
trait but do not express it) are found as seen in
autosomal recessive traits

13
AUTOSOMAL RECESSIVE PEDIGREE
It outlines the inheritance of traits or disorders that
are passed down through non-sex chromosomes
(autosomes) and require two copies of the mutated
gene for the trait to be expressed.
AFFECTED INDIVIDUALS: individuals with the trait
often have unaffected parents, as they may be
carriers (heterozygous)
TRANSMISSION: both genders have an equal
probability of exhibiting the condition. A couple where
both parents are carriers has 25% chances with each
pregnancy that the child produced will have the
condition.
GENERATIONAL APPEARANCE: The loss may skip one
or two generations, an affected individual ay occur
among relatives who do not express the disorder.
CARRIERS: carriers of the trait do not show the trait
but are capable of transmitting the trait to their
children

14
UNAFFECTED PARENTS: should both parents be
unaffected and do not bear the allele, none of their
children will be affected.

15
X-LINKED DOMINANT INHERITANCE
It is a genetic transmission model in which a trait or
disorder is linked to a gene located on the X
chromosome.
INDIVIDUALS WHO ARE AFFECTED: usually an
affected individual has one affected parent. Affected
females may transmit the trait to both their sons and
daughters but affected males only transmit the trait
to their daughters but affected males only transmit
the trait to their daughters excluding the sons.
TRANSMISSION: These are affected individuals of both
sexes, however females tend to be less affected than
males because they have two X chromosomes (one
may be functional while the other is mutated). Males
having one X chromosomes tend to have the severe
form of the disease.
GENERAL APPEARANCE: the trait tends to run in all
generations as the affected individuals are capable of
passing the trait to their offspring.
MALE TO MALE TRANSMISSION: It is known that
affected males do not transmit the trait to their
16
offspring, specifically the sons; this narrows down the
trait to being x-linked dominant and not autosomal
dominant.
PHENOTYPIC VARIATION: The expression of the trait
is not uniform in all affected individuals, for example
in females, it may be quite different among
individuals.

17
X-LINKED RECESSIVE INHERITANCE

It pertains to a genetic pattern of inheritance where

a particular disorder or train is located on the X-
chromosome.
AFFECTED INDIVIDUALS: males tend to be affected
more than females owing to the presence of only one
X-chromosomes. A affected male will show the
characters if he inherits the corresponding mutated
x-chromosome variant frm his mother.
CARRIER FEMALES: Females on the other hand can be
carriers if they have one affected variant of the x-
chromosome and one normal. They do not normally
exhibit the trait but are able to transmit the altered
gene to their children.
TRANSMISSION: A male who is affected does not
transmit the condition to his sons (since they receive
his y) but all his daughters will be carriers of the
condition.

18
AFFECTED DAUGHTERS: A daughter will need to
receive two alleles for the diseased gene to express
the trait; one from each parent. Thus, affected
daughters are usually born to an affected father and
a mother who is at leaset a carrier.
GENERATIONAL SKIPPING: the trait is also said to skip
generations as carrier females are able to have
normal sons and daughters.
EXAMPLES: Common ailments that exhibit x-linked
recessive inheritance include hemophilia and muscular
dystrophy.

19
Y-LINKED INHERITANCE
It refers to the transmission of traits or disorders
associated with genes located on the Y chromosome.
Here are the key characteristics:
MALE ONLY TRANSMISSION: Y-linked traits are
passed exclusively from father to son. Only males
have a Y chromosome, so only they can express Y-
linked traits.
AFFECTED INDIVIDUALS: If a father has a Y-linked
trait, all of his sons will also express that trait, while
his daughters will not be affected at all.
NO FEMALE CARRIERS: Since the Y chromosome is
present only in males, there are no female carriers of
Y-linked traits.
EXPRESSION: Y-linked traits are typically expressed in
all males who inherit the Y chromosome carrying the
trait.
EXAMPLES: Y-linked traits are relatively rare, but
examples include certain types of male infertility and

20
specific characteristics like the Y chromosome's role
in sex determination.

21
RULES OF PEDIGREE ANALYIS
Once phenotypic data is collected from several
generations and 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 affected parents only have unaffected
offspring

The following is the pedigree of a trait controlled by

DOMINANT gene action.

22
For those traits exhibiting recessive gene action:
§ Unaffected parents can have affected offspring
§ Affected progeny are both male and female

The following is the pedigree of a trait by RECESSIVE

gene action.

23
GOAL OF PEDRIGREE ANALYSIS.
o EXPLAINING MODES OF TRANSMISSION: This
describes the mode of inheritance including
whether the trait is dominant or recessive as well
as indicating whether it is autosomal, X-linked or
should be regarded as mitochondrial

o IDENTIFYING CARRIERS: Pedigree analysis can

reveal carrier status in individuals, particularly for
recessive conditions, helping families understand
their genetic risks.

o ESTIMATION OF CHANCES OF SPECIFIC DISORDERS

IN OFFSPRING: some characteristics or disorders
can be estimated for the probabilities of occuring
in the future descendents through such history.

o ADVICE PROVISION: using family tree, genetic

counsellors can explain risk to families and testing
and prevention options.

24
o DISEASE APPLICATION: In the laboratory, family
trees help to establish the inheritance
configurations of achasms, and factors causing
complex diseases.

o BIOLOGY OF THE MIDDLEAGE: It helps to

associate the observable characters with genetic
factors which is important in medicine and
research as well

o GENETIC BASES: It helps to help trace the genetic

makeup to constitute it helps.

25
 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” and “LAW OF INDEPENDENT
ASSORTMENT” can be used to analyse types of
genetic disorders and inheritance patterns.
Pedigree charts, made based on MENDELS’s laws
can be used to analyze and study inheritace
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

26
is hope in the future for a societu 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
• NCERT CLASS 12
• SAFARI
• SCRIBS PDF
• WIKIPEDIA
• CLASS NOTES

27