Scribd
Upload
4 views

Lecture 15 Introduction to Pedigree Analysis

Pedigree analysis is a crucial tool for studying inherited diseases, allowing visualization of family relationships and inheritance patterns. It helps determine the mode of inheritance for genetic disorders, such as autosomal dominant and recessive traits, as well as X-linked and Y-linked traits. The document outlines the characteristics of these inheritance patterns and provides guidelines for analyzing pedigrees to identify genotypes and probabilities of affected individuals.

Uploaded by

kskatholo31
Copyright
© © All Rights Reserved
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
4 views

Lecture 15 Introduction to Pedigree Analysis

Pedigree analysis is a crucial tool for studying inherited diseases, allowing visualization of family relationships and inheritance patterns. It helps determine the mode of inheritance for genetic disorders, such as autosomal dominant and recessive traits, as well as X-linked and Y-linked traits. The document outlines the characteristics of these inheritance patterns and provides guidelines for analyzing pedigrees to identify genotypes and probabilities of affected individuals.

Uploaded by

kskatholo31
Copyright
© © All Rights Reserved
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
You are on page 1/ 19

 Pedigree Analysis

 A very important tool for studying human


inherited diseases


These diagrams make it easier to
visualize relationships within families,
particularly large extended families.

 Pedigrees are often used to determine the


mode of inheritance (dominant,
recessive, etc.) of genetic diseases.
Why do Pedigrees analysis?
◾ Punnett squares and chi-square tests
work well for organisms that have large
numbers of offspring and controlled
matings, but humans are quite
different:
◾ 1.small families. Even large human
families
have 20 or fewer children.
◾ Individuals may wish to be tested
if:
◾ A.)There is a family history of one specific
disease.

◾ B.) They show symptoms of a genetic disorder,

◾ C.) They are concerned about passing on a


genetic problem to their children.

◾ Consanguineous
(Blood-related)
 Autosomal means inherited on chromosome 1-22
while sex- linked means inherited on either X or Y
chromosome.
◾ Autosomal recessive: e.g., PKU, albinism
◾ Autosomal dominant e.g., Huntington’s Disease
◾ X-linked recessive (meaning this allele is found on
only the X chromosome: can be in males or
females)
 e.g., color-blindness, hemophilia
◾ X-linked dominant (meaning this allele is
found on X chromosomes; can be in males
or females) e.g., hypophosphatemia
◾ Y-linked (meaning the allele is found on the Y
chromosome and can only be in males.
• Trait is rare in the pedigree

• Trait often skips generations


(hidden in heterozygous
carriers)

• Trait affects males and


females equally

• Possible diseases include:


Cystic fibrosis, Sickle cell
anemia, Phenylketonuria
(PKU),
Very common in the pedigree
 Trait is found in every
generation

 Affected individual also


transmit the trait to about
1/2 of their children
(regardless of sex).

 There are few autosomal


dominant human diseases but
some rare traits have this
inheritance pattern
Huntington’s disease: an example of
autosomal dominant inheritance
Half the people in the
Venezuelan village of
Barranquitas are affected
- A large-scale pedigree
analysis was
conducted including 10,000
people
- Example for one
• Trait is rare in pedigree
• Trait skips generations
• Affected fathers DO
NOT pass to their sons
• Males are more
often affected than
females
• Females are carriers
(passed from mom to
• Trait is common in pedigree
• Affected fathers pass to ALL of
their daughters
• Males and females are equally
likely to
be affected
• X-linked dominant diseases are
extremely unusual
• Often, they are lethal (before birth) in
males and only seen in females ex.
incontinentia pigmenti (skin lesions)
ex. X-linked rickets (bone 1
◾ Traits on the Y
chromosome are
only found in males,
never in females.

◾ The father’s traits


are passed to all
sons.
◾ Dominance is
irrelevant: there is
only 1 copy of each
Y-linked gene
(hemizygous).

1
◾ Mitochondria traits
are only inherited
from the mother.

◾ If a female has a
mitochondrial trait,
all of her offspring
inherit it.
◾ If a male has a
mitochondrial
trait, none of his
offspring inherit 1
◾ We are now going to look at detailed analysis
of dominant and recessive pedigrees.
◾ To simplify things, we are going to only use
these two types.

◾ The main problems:


1.Determining inheritance type
2.Determining genotypes for various
individuals
3.Determining the probability of an
affected
1. If two affected people have an unaffected child, it
must be a dominant pedigree: D is the dominant
mutant allele and d is the recessive wild type allele.
Both parents are Dd and the normal child is dd.

◾ 2. If two unaffected people have an affected child, it


is a recessive pedigree: R is the dominant wild type
allele and r is the recessive mutant allele. Both
parents are Rr and the affected child is rr.

◾ 3. If every affected person has an affected parent it


is a dominant pedigree.
◾ 1. All unaffected are dd.
◾ 2. Affected children of an affected parent
and an unaffected parent must be
heterozygous Dd, because they inherited a
d allele from the unaffected parent.
◾ 3. The affected parents of an unaffected
child must be heterozygotes Dd, since they
both passed a d allele to their child.
◾ 4. Outsider rule for dominant autosomal
pedigrees: An affected outsider (a person
with no known parents) is assumed to be
heterozygous (Dd).
◾ 5. If both parents are heterozygous Dd x Dd,
their affected offspring have a 2/3 chance of
being Dd and a 1/3 chance of being DD.
◾ 1. all affected are rr.
◾ 2. If an affected person (rr) mates with an
unaffected person, any unaffected offspring
must be Rr heterozygotes, because they got a
r allele from their affected parent.
◾ 3. If two unaffected mate and have an affected
child, both parents must be Rr heterozygotes.
◾ 4. Children of RR x Rr have a 1/2 chance of being RR
and a 1/2 chance of being Rr. Note that any siblings
who have an rr child must be Rr.
◾ 5. Unaffected children of Rr x Rr have a 2/3 chance
of
being Rr and a 1/3 chance of being RR.
1
Remember:
• dominant traits may be rare in a
population
• recessive traits may be
common in a population
• alleles may come into the pedigree
from 2 sources
• mutation happens
• often traits are more complex
• affected by environment & other
genes

You might also like