GENETICS

(ICS - 4)

Asst. Prof. Ganesh Elumalai

UNIT HEAD - ANATOMY
COLLEGE OF MEDICINE
TEXILA AMERICAN UNIVERSITY
 GENETIC
RISK CALCULATOR
 GENETIC
RISK CALCULATOR
Learning Objectives: At the end the session:

1.Students must able to Define the “Genetic Risk calculator” and its importance.

2.Students must able to understand the “Law of Addition” their indications.

3.Students must able to understand the “Law of Multiplication” and its importance.

4.Students must able to Define the “Punnett's Square” and its importance.

5.Students must able to Define the “Inheritance” and its different Mode.

6.Students must able to Define the “Pedigree Chart”, and its Uses, Symbols and
Construction.
 OBJECTIVE - 1
GENETIC RISK CALCULATOR:
Calculate the Occurrence / Recurrence genetic risk of inheritance mode
in “Single gene Medelian inheritance disease”.

It can be calculated in various situations: like

A.When the Genotype / Carriers are Known, in the family

B.When the Genotype / Carriers are inferred (Unknown), from the family
history

C.When the Genotype / Carriers are unknown, by Bayes’s Probability.

D.When the Genotype / Carriers of complex traits using Imperical data.

 QUESTION - 1
Genetic Risk Calculator helps to calculate the
Occurrence / Recurrence of inheritance mode in:

A.Single Gene or Mendelian Inheritance

B.Multifactorial Inheritance

C.Mitochondrial Inheritance

D.En bloc (All together)

 QUESTION - 1
Genetic Risk Calculator helps to calculate the
Occurrence / Recurrence of inheritance mode in:

A.Single Gene or Mendelian Inheritance

B.Multifactorial Inheritance

C.Mitochondrial Inheritance

D.En bloc (All together)

 OBJECTIVE - 2
LAW OF ADDITION:
The rule of addition is, the probability of an event that can
occur two or more different ways is the sum of the separate
probabilities of those ways.

When two events, A and B, are mutually exclusive, the

probability that A or B will occur is the sum of the probability of
each event. P(A or B) = P(A) + P(B).

e.g., Tossing the Coin, Getting Male or Female baby as an outcome

of a single pregnancy.
½+½=1
 QUESTION - 2
A single 6-sided die is rolled. What is the probability of
rolling a 2 or a 5?

A.1/2

B.1/3

C.1/4

D.1/6
 QUESTION - 2
A single 6-sided die is rolled. What is the probability of
rolling a 2 or a 5?

A.1/2

B.1/3

C.1/4

D.1/6
 QUESTION - 3
A coin is tossed, Find the probability of landing on the
head side of the coin.

A.1

B.1/2

C.1/3

D.1/4
 QUESTION - 3
A coin is tossed, Find the probability of landing on the
head side of the coin.

A.1

B.1/2

C.1/3

D.1/4
 OBJECTIVE - 3
LAW OF MULTIPLICATION:
Will be used, when you want to determine the probability that two
or more independent events will occur together in some specific
combination.

The probability of two (or more) independent events occurring together

can be calculated by multiplying the individual probabilities of the events.

e.g., Getting both Male and Female babies, as an outcome of a single

pregnancy.
½X½=¼
 QUESTION - 4
A coin is tossed and a single 6-sided die is rolled. Find
the probability of landing on the head side of the coin
and rolling a 3 on the die.

A.1/2

B.1/6

C.1/12

D.1/24
 QUESTION - 4
A coin is tossed and a single 6-sided die is rolled. Find
the probability of landing on the head side of the coin
and rolling a 3 on the die.

A.1/2

B.1/6

C.1/12

D.1/24
 OBJECTIVE - 4
PUNNETT’S SQUARE:
Example: PATERNAL: XY

X Y
MATERNAL: XX

Frequency:
XX XY
X

Genotypes Ratio

XX : 2
XX XY

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X

XY : 2

In 1910, Punnett developed a simple method of depicting the possible genotypes

one could get from various matings. We call it the Punnett Square. It is used in
predicting the genotypic ratios in the offspring.
 OBJECTIVE - 5
INHERITANCE:
Inheritance is the transmission of genetically
encoded traits, conditions or diseases to offspring.

MODES OF INHERITANCE:

There are several modes of inheritance

•Single Gene or Mendelian Inheritance

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•Multifactorial Inheritance

•Mitochondrial Inheritance
Continue….
 OBJECTIVE - 5
INHERITANCE PATTERNS
SINGLE GENE INHERITANCE:

Single gene inheritance is also referred to as

Mendelian inheritance .

Genetic conditions caused by mutation in a single

gene, shows predictable patterns of inheritance within
families.

TYPES:
There are five types of Mendelian inheritance
Patterns.
1. AUTOSOMAL DOMINANT
2. AUTOSOMAL RECESSIVE
3. X- LINKED DOMINANT
4. X- LINKED RECESSIVE
5. Y- LINKED INHERITANCE Continue….
 OBJECTIVE - 5
TERMINOLOGIES
1. AUTOSOMAL INHERITANCE: The
INHERITANCE: gene responsible for the trait, conditions or
diseases is located on one of the 22 pairs of autosomes (Non-Sex determining
chromosomes).

2. X-LINKED INHERITANCE: The gene that encodes for the trait, conditions or

diseases is located on the X- chromosome (Sex determining chromosomes).

3. Y-LINKED INHERITANCE: The
INHERITANCE: gene that encodes for the trait, conditions or
diseases is located on the Y- chromosome (Sex determining chromosomes).

4. DOMINANT: These conditions manifest even in heterozygote state of mutant

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allele (individuals with just one copy of the mutant allele).

5. RECESSIVE: These
RECESSIVE: conditions manifest only in individuals who have two copies of
the mutant allele (homozygous).
 OBJECTIVE - 6
PEDIGREE CHARTS
Template
The family tree of genetics

The word “pedigree” is a corruption of the French "pied de

grue" or crane's foot, because the typical lines and split lines
(each split leading to different offspring of the one parent line)
resemble the thin leg and foot of a crane.
 OBJECTIVE - 6
OVERVIEW:
I. What is a pedigree?
a. Definition
b. Uses

II. Constructing a pedigree

a. Symbols
b. Connecting the symbols

III. Interpreting the pedigree charts

 OBJECTIVE - 6
What is a pedigree?

a. Definition
A pedigree is a chart of the genetic history of
family, may includes over several generations.

b. Uses
Scientists or a genetic counselor would find out
about the patient’s family history and make this chart to
analyze.
 OBJECTIVE - 6
CONSTRUCTING A PEDIGREE:

a. Pedigree chart Symbols

b. Connecting the symbols

OBJECTIVE - 6

PEDIGREE CHART SYMBOLS

 OBJECTIVE - 6
PEDIGREE CHART SYMBOLS
SYMBOLS MEANINGS

Normal Male

Normal Female

Affected Male

Affected Female

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Deceased Male

Deceased Female
 OBJECTIVE - 6
SYMBOLS MEANINGS

Sex unknown (Baby in Womb)

Affected Individual with

Sex Unknown (Baby in Womb)
Deceased Individual with
Sex Unknown (Stillborn Baby)

P Female in Womb

P Male in Womb

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Miscarriage

SAB / MTP
OBJECTIVE - 6
SYMBOLS MEANINGS

Male, Heterozygous with

Autosomal Recessive
Female, Heterozygous with
Autosomal Recessive

Female with Carrier of

X -Linked Recessive
Married Couple

Consanguinous Marriage

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Proband -- First affected family
member coming to medical
attention
OBJECTIVE - 6
SYMBOLS MEANINGS

Individual need
Genetic counseling / Testing

3
Siblings with
Number known
4

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Siblings with
Number Unknown
n
OBJECTIVE - 6
SYMBOLS MEANINGS
Divorced couple

Separated Couple
Unmarried
Living Together
Developmental Delay

Gay/Lesbian/Bisexual/
Transgender (GLBT)
Hostility / Enemity

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Immigrant
Group of Members living
Together
 CONNECTING THE
PEDIGREE SYMBOLS
SYMBOLS MEANINGS
Married Couple
With their own Son

Married Couple
With their own
Son & Daughter

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Married Couple
With their adopted Son
SYMBOLS MEANINGS

Married Couple
With their own
Identical Twins

Married Couple

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With their own
Non – Identical Twins
INTERPRETING THE
PEDIGREE CHARTS
 I

II

IIIP
CHART: 1

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 CHART: 2

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 OBJECTIVE – 1A
GENETIC RISK CALCULATOR:
Calculate the Occurrence / Recurrence genetic risk of inheritance mode
in “Single gene Medelian inheritance disease”.

It can be calculated in various situations: like

A.When the Genotype / Carriers are Known, in the family

 QUESTION - 5
Protoporphyria is a rare X-linked dominant genetic
disorder characterized by an abnormal sensitivity to the
sun. What is the risk that the son of an affected male
inherits the disease?

A.100%
B.75%
C.50%
D.25%
E.0%
 QUESTION - 5
Protoporphyria is a rare X-linked dominant genetic
disorder characterized by an abnormal sensitivity to the
sun. What is the risk that the son of an affected male
inherits the disease?

A.100%
B.75%
C.50%
D.25%
E.0%
 OBJECTIVE – 1B
GENETIC RISK CALCULATOR:
Calculate the Occurrence / Recurrence genetic risk of inheritance mode
in “Single gene Medelian inheritance disease”.

It can be calculated in various situations: like

B.When the Genotype / Carriers are inferred (unknown), from the family
history
 QUESTION - 6
In a previous marriage, Romeo has had a child affected with phenylketonuria
(PKU), an autosomal recessive disease. After a difficult divorce, he finds a
new wife, Juliette. Juliette wishes to have children with Romeo, but is
concerned of their risk to also develop PKU. Knowing that PKU carrier
prevalence is 1 in 1000, what would be the probability that Romeo and
Juliette have children affected with PKU?

A.1/2
B.1/4
C.1/1000
D.1/2000
E.1/4000
 QUESTION - 6
In a previous marriage, Romeo has had a child affected with phenylketonuria
(PKU), an autosomal recessive disease. After a difficult divorce, he finds a
new wife, Juliette. Juliette wishes to have children with Romeo, but is
concerned of their risk to also develop PKU. Knowing that PKU carrier
prevalence is 1 in 1000, what would be the probability that Romeo and
Juliette have children affected with PKU?

A.1/2
B.1/4
C.1/1000
D.1/2000
E.1/4000
 OBJECTIVE – 1C
GENETIC RISK CALCULATOR:
Calculate the Occurrence / Recurrence genetic risk of inheritance mode
in “Single gene Medelian inheritance disease”.

It can be calculated in various situations: like

C.When the Genotype / Carriers are unknown, by Bayes’s Probability.

 OBJECTIVE – 1C
BAYES’S PROBABILITY:

Bayes' theorem is often used in medical genetics to estimate occurrence and recurrence
risks.

Terminologies to understand

A.Prior Probability: The risk of inheriting the disease allele from known carriers in the
family.

B.Conditional Probability: Inheritance of wild-type (normal) alleles to their offspring's

from known/unknown carriers in the family. The impact of additional evidence on the
probability of each possible outcome.

C.Joint Probability: Product of the prior and conditional probability

D.Posterior Probability: Expressed as a fraction of all possible outcomes.

 QUESTION - 7
Bayes' theorem is often used in medical genetics to estimate
occurrence and recurrence risks. Which of the following best describe
the prior probability?

A.The risk of inheriting the disease allele from known carriers in the
family
B.The impact of additional evidence on the probability of each possible
outcome.
C.Product of the prior and conditional probability
D.Expressed as a fraction of all possible outcomes.
 QUESTION - 7
Bayes' theorem is often used in medical genetics to estimate
occurrence and recurrence risks. Which of the following best describe
the prior probability?

A.The risk of inheriting the disease allele from known carriers in

the family
B.The impact of additional evidence on the probability of each possible
outcome.
C.Product of the prior and conditional probability
D.Expressed as a fraction of all possible outcomes.
 QUESTION - 8
Bayes' theorem is often used in medical genetics to estimate
occurrence and recurrence risks. Which of the following best
describe the posterior probability?

A.The risk of inheriting the disease allele from known carriers in

the family

B.The impact of additional evidence on the probability of each

possible outcome.

C.Product of the prior and conditional probability

D.Expressed as a fraction of all possible outcomes.

 QUESTION - 8
Bayes' theorem is often used in medical genetics to estimate
occurrence and recurrence risks. Which of the following best
describe the posterior probability?

A.The risk of inheriting the disease allele from known carriers in

the family

B.The impact of additional evidence on the probability of each

possible outcome.

C.Product of the prior and conditional probability

D.Expressed as a fraction of all possible outcomes.

 QUESTION - 9
The following pedigree depicts a family affected with hemophilia A, an
X-linked recessive disorder. Knowing that Beatrice has 2 unaffected
brothers, use Bayesian probability to estimate the probability that
Beatrice is carrier of the hemophilia-A mutation.

A.1/2
B.1/4
C.1/8
D.1/10
E.1/16
 QUESTION - 9
The following pedigree depicts a family affected with hemophilia A, an
X-linked recessive disorder. Knowing that Beatrice has 2 unaffected
brothers, use Bayesian probability to estimate the probability that
Beatrice is carrier of the hemophilia-A mutation.

A.1/2
B.1/4
C.1/8
D.1/10
E.1/16
 QUESTION - 10
Aaron and Alice are both carriers of the ΔF508 mutation, a deletion of three
nucleotides that code for a phenylalanine residue at position 508 of the CFTR
protein. At the age of 8 months, their first born child, Henry, is unaffected. What
is the probability that Henry be a carrier of the Δ F508 mutation in the CFTR
gene?

A.1/2
B.1/3
C.1/4
D.2/3
E.3/4
 QUESTION - 10
Aaron and Alice are both carriers of the ΔF508 mutation, a deletion of three
nucleotides that code for a phenylalanine residue at position 508 of the CFTR
protein. At the age of 8 months, their first born child, Henry, is unaffected. What
is the probability that Henry be a carrier of the Δ F508 mutation in the CFTR
gene?

A.1/2
B.1/3
C.1/4
D.2/3
E.3/4
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