Pedigree
Analysis
MBBS II Year- 48th
Introduction
Inheritance is the process by which information is passed down
from one generation to the other
Gene: A segment of DNA that codes for a specific protein
Allele: Different forms of a gene located on the same locus
Cont.
Genotype Phenotype
Genetic makeup of an Observable traits of an
individual individual resulting from a
specific genotype
e.g. AA, Aa, aa
e.g. eye color, height etc.
Mendel’s Laws of Inheritance
Law of Segregation
Each individual has two alleles for each trait , and during gamete
formation, only one allele is passed on to each gamete. The
of f sp ring has two alleles, one f rom eac h p arent, whic h
contributes to genetic diversity
Law of Independent Assortment
Genes for different traits assort independently of one another
during gamete formation. This means that the inheritance of
one trait does not influence the inheritance of another
A dominant allele is one that masks the expression of a
recessive allele when both are present in the genotype (Aa)
A recessive allele is one that is expressed when two copies of it
are present in the genotype (aa)
Pedigree
• A diagram that shows the occurrence
and inheritance of a specif ic traits
within a family across generations
• I n p e d i g re e s, e ac h g e ne rati o n i s
represented by a row, and individuals
are depicted using symbols
• Relationships between individuals are
shown with connecting lines,
indicating marriages and parent-
offspring relationships
Pedigree Components
Proband =First affected member in a family, Identified by an
arrow
Affected Individuals =Shown by shaded symbols
Carriers =Individuals who carry a disease-causing allele but do
not exhibit symptoms are represented by half-shaded symbols
Unaffected Individuals =Those without the genetic disorder are
depicted with clear symbols
Cont.
Generations =Rows in pedigree representing different generations
Relationships =Horizontal lines connect mating partners, and
vertical lines extend downward to connect parents with their
offspring
Pedigree Analysis
Family Tree
Identifying Pattern of
Inheritance
Predicting Risk or
Disease Probability
Genetic Counseling
Pattern of Inheritance
Autosomal Dominant
In an autosomal dominant pattern of inheritance, a single copy
of a mutated gene is sufficient to cause a genetic disorder
If one parent carries the mutated gene, there's a 50% chance
their child will also inherit the disorder
Characteristics:
-The trait is found in every generation, trait does not skip
generations
-Males and females are effected equally. Diseased individuals
usually have a diseased parent. If the parents do not have the trait,
the children also do not have the trait
-Examples of Autosomal Dominant form of inheritance are;
Huntington’s disease, Marfan’s syndrome etc.
Autosomal Recessive
A pattern of inheritance where a trait or disorder requires two
copies of a mutated gene, one from each parent, to be expressed
Characteristics:
-The trait often skips generations, hidden in heterozygous carriers
-Males and females are effected equally. Diseased individuals may
not have a diseased parent. Unaffected parents can give rise to
affected children (if both are carriers)
-If both parents are carriers, then, then 25% or one in four offspring
are effected
-Examples include; Cystic Fibrosis, Thalassemia etc.
X-linked Dominant
X linked dominant is a pattern of inheritance where a mutation on X
chromosome is sufficient to cause disease in both males and females
If males inherit the mutated X chromosome, they will also be effected
Females are often less severely affected than males because of one
normal X chromosome. The mutation maybe lethal in males
An affected female has a 50% chance of passing the trait to her
children (male or female)
An affected male passes the mutation to all his daughters but none of
his sons
Example- Rett’s Syndrome
X-linked Recessive
A pattern of inheritance where a mutated gene on the X
chromosome causes a trait or condition to be expressed in
males and in females who are homozygous (have two copies)
for the mutation
Males are effected more than females
Affected father does not pass the trait to his sons
An affected male passes the genes to all her daughters who
become carriers
A carrier daughter has a 50% chance of passing the gene to
each son (who may be affected) or each daughter (who may
become carrier)
Cont.
An affected male will pass the gene to all of his daughters but
none of his sons
Examples of X linked recessive inheritance are Hemophilia A,
G6PD deficiency, Red green color blindness etc.
Mitochondrial Inheritance
Mitochondria are only inherited from the mother
If the mother has a mitochondrial trait, then all her offspring will
have it
If the father has a mitochondrial trait, then none of his children
will inherit it
Applications
Pattern of Inheritance can be determined
Disease diagnosis
Risk assessment
Genetic counseling and testing
Carriers for disease can be predicted in a family with certain
trait
Thank You!
