GENERAL

BIOLOGY 2
TOPIC LEARNING OUTCOMES

At the end of the session, the learners

are expected to be able to:

• explain sex linkage and

recombination;
• create a pedigree chart of a certain
trait;
• analyze the results of the pedigree
chart; and
• show appreciation on the concepts of
pedigree in the genetic health of
people.
REVIEW:
Check your understanding
Pretend that Mark is homozygous for the type B allele, and Inday is
type O. What is/are the possible blood type/s of the baby?
(Show answer using a Punnett Square)
Check your understanding
Pretend that Mark is type AB and Inday is type O. What is/are the
possible blood type/s of the baby?
(Show answer using a Punnett Square)
Ishihara
Ishihara color
perception test
 Sex
Linkage
 Sex
Chromosomes
 In humans:
46 chromosomes (23 pairs)

22 autosomal pairs
1 pair of sex chromosomes
(X and Y chromosomes)
 XX Xy
With clear Both genes are
dominance expressed.
relationship
 The y chromosome
• Plays the largest role in human
sex determination
• Carries fewer than 100 genes
Stature- and height-promoting

SRY-testes determining factor

Skeletal abnormalities

Spermatogenesis-promoting
 The y chromosome
• The absence of a Y chromosome (XO)
results in a female.

• The presence of a Y chromosome,

regardless of the number of X
chromosomes, promotes the
development of a male.
 The X chromosome
Ichthyosis

Duchenne muscular dystrophy • Carries more than

Retinitis pigmentosa
Night blindness
Testicular feminization
1000 protein-encoding
genes, most of which
have nothing to do
with sex determination

Hemophilia
 X-linked
or
Sex-linked
 X-linked
Recessive
 X-LINKED RECESSIVE
• A mode of genetic inheritance by
which a recessive gene is carried on
the x chromosome

• Causes most x-linked disorders in

humans
 X-LINKED RECESSIVE
• A female exhibits an X-linked recessive
disorder only if she inherits the
recessive allele from both parents.

• For a male to express the disorder, he

needs to inherit only one copy of the
defective allele.
 X-LINKED RECESSIVE:
Hemophilia A

• A clotting factor is missing or

defective
• Blood clots slowly and
bleeding is excessive.
X-LINKED RECESSIVE:
Hemophilia A

CASE 1:
A heterozygous female
does not exhibit
symptoms because her
dominant allele encodes a
functional blood-clotting
protein.
X-LINKED RECESSIVE:
Hemophilia A

CASE 1:
When she has children
with a normal male, each
son has a 50% chance of
being affected and each
daughter has a 50%
chance of being a carrier.
 X-LINKED RECESSIVE:
Hemophilia A
Father-XHY
Mother-XHXh
H
X Y
H H H H
X X X X Y
h H h h
X X X XY Hemophiliac

Carrier
 1. What is the chance
of having a male
offspring getting
hemophilia?

A. 0%
B. 50%
h H H C. 75%
D.100%
 2. What is the chance
of having a female
offspring getting
hemophilia?
A. 0%
B. 50%
C. 75%
h H H
D. 100%
 3. What is the chance
of having a female
offspring being a
carrier of hemophilia
gene?
A. 0%
B. 25%
h H H
C. 50%
D. 100%
 4. What is the chance
of having a male
offspring being a
“carrier”?
A. 0%
B. 25%
C. 50%
h H H D. 100%
 5. What is the
chance of having a
male offspring
getting hemophilia?
A. 0%
B. 50%
h H h C. 75%
D. 100%
 6. What is the
chance of having a
female offspring
getting hemophilia?
A. 0%
B. 50%
h H h C. 75%
D. 100%
 7. What is the
chance of having a
female offspring
being a “carrier”?
A. 0%
B. 50%
h H h C. 75%
D. 100%
 8. What is the chance
of having a male
offspring being a
carrier?
A. 0%
B. 25%
C. 50%
h H h D. 100%
 X-LINKED RECESSIVE
• Other examples:
Red-green colorblindness
Duchenne Muscular Dystrophy
Lesch-Nyhan Syndrome
 X-linked
Dominant
 X-LINKED dominant
• A mode of genetic inheritance by
which a dominant gene is carried on
the x chromosome

• Less common than the x-linked

recessive disorders in humans
 X-LINKED dominant
• Only one copy of the allele is sufficient
to cause the disorder when inherited
from a parent who has the disorder

• Do not necessarily affect more males

than females.
 X-LINKED dominant

CASE 1:
All daughters of an
affected father will also be
affected but none of his
sons will be affected
(unless the mother is also
affected).
X-LINKED dominant:
RETT SYNDROME
Father-XRY
Mother-XrXr
R
X Y
r R r r
X X X XY
r R r r
X X X XY
Affected (with Rett Syndrome)
 X-LINKED dominant

CASE 2:
When the mother is
affected, there is a 50%
chance that the sons and
daughters will also
become affected.
X-LINKED dominant:
RETT SYNDROME
Father-XrY Affected (with Rett
Mother-XRXr Syndrome)
r
X Y
R R r R
X X X XY
r r r r
X X X XY
EXERCISES
1. The last Emperor of Russia, Nicolas II, was married to
Empress Alexandra (they are both non-hemophiliac). They
had five children, Olga, Tatiana, Maria, Anastasia, and
Alexis. Prince Alexis was the only one who was afflicted
with hemophilia or the royal bleeding disease; all other
members were normal.

1. If Prince Alexis was afflicted with the disease,

determine his genotype.
2. What could be the genotypes of the Emperor and
Empress?
3. Is it possible that each daughter could have been a
carrier?
 H
X Y
H H H H
X X X X Y
H H H H
X X X X Y
H
X Y
H H H H
X X X X Y
h H h h
X X X XY
PEDIGREE
Constructing a
Pedigree
PEDIGREE
• Diagram 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.

USES OF PEDIGREE ANALYSIS:

• Describe the mode of inheritance of a trait
• Calculate the probability of occurrence an
affected offspring in a given cross
Normal male Proband/index case
(Propositus = male;
Proposita = female)
Normal
female
or Affected by trait
or disorder

or
Normal
mating

Siblings
Consanguineous (brothers
mating and sisters)
 Sibship of 4 males
and 3 females
4 3 (for economy of space)
or
3 offspring, sex Dizygotic twins
3 unknown (fraternal)

Small circles
represent abortions
or miscarriages Zygosity
? uncertain

or
Monozygotic twins
(identical) or Deceased
 P P P Current
Adopted in
pregnancy

Adopted out
 Marriage/mating line

I
Sibship line
1 2 3 4 5 6
II
4
1 2 4 5 6 7 8 9 10-13
III
1 2 3 4 5 6 7 8 9 10
Identical twins Fraternal twins
Proband
 CHECK YOUR
UNDERSTANDING
Pedigree Chart of Hemophilia
1. How many males are there?
2. How many of the males have
hemophilia?
3. How many females are there?
4. How many females have hemophilia?
5. How many marriages are there?
6. How many children did the first couple
have?
7. How many children did the third
couple have?
8. How many generations are there?
9. How many individuals are there in the
fourth generation?
10.How many children are adopted in?
 Rett Syndrome Pedigree Chart

I
11. What type of x-
linked inheritance
is shown in the
II chart?

12. What is the

genotype of
individual I-1?
III
13. What is the
genotype of
individual I-2?
IV
 Rett Syndrome Pedigree Chart

I 14. What is the

genotype of
individual IV-3?

II 15. What is the

genotype of
individual IV-6?

16. What is the

III chance of having an
offspring with Rett
Syndrome if the
individual IV-3
IV marries a normal
man?
 Rett Syndrome Pedigree Chart

I
17. What is the
chance of having a
male offspring with
II Rett Syndrome if the
individual IV-6
marries a woman
whose allele is
heterozygous for the
III disorder?

18. How many

generations are
IV there in the chart?
 Rett Syndrome Pedigree Chart

I 19. How many

females with Rett
Syndrome are
there?
II
20. How many
females are there in
the chart?

III

IV
DRILLS
SCENARIO:
Marge Simpson is disappointed that none of her children
have the blue/purple hair that runs in her family. She asks you, a
genetic counselor, to analyze her family history and tell her what
the likelihood is that her children will have blue/purple
haired-children.
The Simpsons
Homer Simpson Marge Simpson
Bart Simpson Lisa Simpson Maggie Simpson
 Abraham
- Father of Homer and Clancy
Herb - Father of Marge,
Patty, and Selma

Mona Jackie
- Mother of
- Mother of Homer
Marge, Patty,
and Selma
 Herb
- Son of Abraham
- half-brother of
Selma
- Daughter of Clancy
Homer
and Jackie
- Sister of Marge

Ling
Patty - Adopted
- Daughter of Clancy daughter of
and Jackie Selma
- Sister of Marge
Tasks:
1. Using the inputs, construct a three-generation pedigree of the
Simpson family and infer as much about the blue/purple hair
phenotype as possible.
2. Answer the following:
a. Is blue/purple hair color an autosomal trait? Why?
b. What information does a pedigree give you?
c. Why might someone with a medical concern be interested in
creating a pedigree?
1. How do you feel that you can see well?

2. What is the significance of having a

pedigree chart in a family?
REFERENCES:

Exploring Life Through Science Series: Earth and Life Science by

Olivar, Jose II and Morales-Ramos, Anna Cherylle

General Biology Book I and II by Marielle Hoefnagels. McGraw Hill

Education.

General Biology 2 by Rea, Maria Angelica D. and Dagamac, Nikki

Heherson A.

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