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Pedigree Analysis

LC: Predict genotypes and phenotypes of parents and offspring using the
laws of inheritance (STEM_BIO11/12- IIIa-b-1)

At the end of the lesson, you should be able to:


I. identify the mode of inheritance of a
particular trait given the pedigree
II. predict the genotypes of parents
III. predict the probability of having an affected
offspring
RELEVANT VOCABULARY

Pedigree
• Making use of diagrams showing the ancestral relationships and transmission of genetic traits over
several generations in a family

Proband
• The individual in the pedigree that led to the construction of the pedigree.
• For example, a couple consults a medical geneticist because they have an offspring who is afflicted
with a disease and they want to find out the mode of transmission of this disease.
• When the medical geneticist constructs the pedigree, the offspring will be labeled as the proband.

Through the pedigree, the probability of having other affected children may be
determined.
Pedigree analysis

With diagrams showing the


ancestral relationships and
transmission of genetic traits
over several generations

E.g. humans, dogs, cattle


Autosomal Recessive Trait

Either I-3 or I-4 must


be heterozygous

Recessive traits
typically skip
generations

Recessive autosomal
traits appear equally in
both sexes
Autosomal Dominant Trait

I-1 heterozygous for a


dominant allele

Dominant traits almost


always appear in each
generation

Affected individuals all have


affected parent.

Dominant autosomal traits


appear equally in both sexes
Genetic Terminology

• any characteristic that can be passed from


Trait parent to offspring

Heredity • passing of traits from parent to offspring

Autosomal • A trait whose alleles that control it are


found in the autosomes (body
trait chromosomes/ non-sex chromosomes)
• two forms of a gene (dominant &
Alleles recessive)

• stronger of two genes expressed


Dominant in the hybrid; represented by a
capital letter (R)

• gene that shows up less often in


Recessive a cross; represented by a
lowercase letter (r)
Supposed that you are a group of geneticists and you
have to solve the mystery of how the trait was
inherited from parents to offspring
1. Is this trait dominant or recessive?
2. What are the most probable genotypes of I-3 and
I-4?
3. What are the most probable genotypes of II-4
and II-5?
4. What is the probability that II-4 and II-5
will have another normal offspring?
Each group should answer the following
questions:
1. Look at the family of IV-9 and IV-10. If the trait is dominant, is it
possible for them to have an affected offspring?
2. If the trait is recessive, is it also possible for IV-9 and IV-10 to have
an unaffected offspring?
3. Based on your answers for a) and b), is the trait dominant or
recessive?
4. Give the genotypes of the following:
 i. IV-9, ii. IV-10, iii. V-1, iv. I-1, v. I-2
5. If IV-9 and IV-10 were to have another child, what is the
probability that they will have an affected offspring?
1. Look at the family of IV-9 and IV-10.
If the trait is dominant, is it possible for
them to have an affected offspring?
Answer: NO. If the trait is dominant,
then unaffected individuals are
homozygous recessive. Two recessive
individuals CANNOT produce a dominant
offspring.)
2. If the trait is recessive, is it also
possible for IV-9 and IV-10 to have an
unaffected offspring?
Answer: YES. This can happen if both
parents are heterozygous for the trait,
which means they can each give a
recessive allele to produce a homozygous
recessive offspring
3. Based on your answers for a) and b),
is the trait dominant or recessive?

Answer: RECESSIVE
Give the genotypes of the following:
i. IV-9, ii. IV-10, iii. V-1, iv. I-1, v. I-2

i. IV-9 (Answer: Dd)


ii. IV-10 (Answer: Dd)
iii.V-1 (Answer: DD or Dd)
iv. I-1 (Answer: dd)
v. I-2 (Answer: Dd)
5. If IV-9 and IV-10 were to have another
child, what is the probability that they
will have an affected offspring?
Answer: 1/4 or 25% following the
Mendelian ratio from a hybrid cross
Group Presentation
Wrap Up
Construct a pedigree of an authentic
family using any of the following traits:
I. With (dominant) or without finger hair (recessive)
II. Normal (dominant) or hitchhiker’s thumb (recessive)
III. Widow’s peak (dominant) or straight hairline
(recessive)
IV. Free (dominant) or attached earlobe (recessive)
V. Curly (dominant), wavy (heterozygous) or straight
(recessive) hair

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