QUIRINO STATE UNIVERSITY

DIFFUN CAMPUS
Diffun 3401, Quirino
LABORATORY HIGH SCHOOL

SELF - PACED
LEARNING MODULE
IN

GENERAL
BIOLOGY 2
NIMPHA B. AMTALAO
Instructor I

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QUIRINO STATE UNIVERSITY
DIFFUN CAMPUS
Diffun 3401, Quirino
LABORATORY HIGH SCHOOL

MODULE 2: Sex Linkage and Recombination

COMPETENCIES
At the end of the lesson, the learners will be able to:
• illustrate the transmission of an X-linked and a Y-linked character;
• compute the probability of the occurrence of a sex-linked trait; and
• give examples of other sex-related traits.

DISCUSSION
I. Review relevant vocabulary
a. Sex linked trait. The gene (pair) that determines a character (e.g. hemophilia) is
located on the sex chromosomes
b. X-linked trait. A sex-linked trait is where the gene or allele for the trait is found
on the X chromosome
c. Color blindness. An X-linked recessive trait where a affected individual could
not distinguish red from green color (red green color blindness)
d. Hemophilia. An X-linked recessive trait where an affected individual suffers
from delayed blood clotting during injuries because of the absence of certain
blood clotting factors
e. Y-linked trait. A sex-linked trait where the gene or allele for the trait is found
on the Y chromosome
f. Hypertrichosis pinnae auris. A Y-linked trait where affected males have hair
growing from their external ears
g. Other sex-related traits.
A. Sex-influenced trait- Any trait in a diploid organism whose expression is
affected by an individual’s biological sex; a trait that occurs at a higher
frequency in one sex over the other
B. Sex-limited trait- Any trait in a diploid organism whose expression is limited
to just one biological sex

Teacher tip: Review the topic on recombination in Meiosis that they took up in BIO 1.
Recombination or shuffling of genes/ alleles in Meiosis results to variation in the genome of
gametes, the sperm cells and egg cells.
In any cell of the body (somatic), there are chromosome pairs. In humans, pair numbers 1-22 are
the autosomes or body chromosomes while the last (23rd) pair is the sex chromosome.
Normal human females have two X chromosomes and normal human males have one X
chromosome and a Y chromosome; that is: XX- female XY- male

Sex-linked traits
A gene present on one of the sex chromosomes (X or Y in mammals) is a sex-linked trait
because its expression depends on the sex of the individual. In humans, males and
females are represented by different sex chromosomes Females have two X
chromosomes in the nucleus of their cells. Males have one X chromosome and one Y
chromosome in the nucleus of their cells. Depending on whether the trait is dominant
or recessive, the expression pattern of the trait differs in males and females.
Colorblindness in humans as an example of sex-linked trait. The alleles responsible for
colorblindness is found on the X chromosome only. The dominant allele is the normal
allele; the recessive allele causes colorblindness. Females need two copies of the
recessive allele, one from each of the two X chromosomes, for the trait to be manifested.
If they only have one copy of the recessive allele, they have normal color vision.
However, they are carriers for the trait in that they may pass it on to their offspring.
Males only need one recessive allele in their sole X chromosome for the trait to be
expressed.

Y-linked trait
Since the allele is found only in the Y chromosome, and since only males have Y
chromosomes, then only males will express the trait. Females CANNOT express Y-linked
traits. Hypertrichosis pinnae auris as an example of a Y-linked trait.
If a male has the allele responsible for the trait, then his Y chromosome will possess
that allele. Since he will pass on his Y chromosome to his sons, then all his sons will
inherit the trait, and they, in turn, can pass on the allele to their sons.

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QUIRINO STATE UNIVERSITY
DIFFUN CAMPUS
Diffun 3401, Quirino
LABORATORY HIGH SCHOOL

Sex-Related Traits

A. Sex-influenced trait
Traits may be expressed differently between sexes.
• Hormonal or physiological differences between the sexes cause differences of
expression of certain genes. Baldness in humans as an example of a sex-influenced
trait. Sex-influenced traits are autosomal traits that are influenced by sex. If a male has
one recessive allele, he will show that trait, but it will take two recessive for the female
to show that same trait. One such gene is baldness. A lot of sex-limited traits can
determine parental carriers by using a pedigree.

B. Sex-limited traits
Traits may be limited to one sex only
Hormonal or physiological differences between sexes may limit the expression of some
genes to one biological sex only. Functional mammary glands as an example of a sex -
limited trait. Only females can express functional mammary glands that produce milk
immediately after giving birth. Note that baldness behaves like a dominant trait in
males in that only one dominant allele is needed for baldness to be expressed. On the
other hand, the trait behaves like a recessive trait in women in that they need both
dominant alleles to be present for baldness to be expressed.

Inheritance Patterns

It is important to understand the basic laws of inheritance to appreciate how conditions

are passed on in a family. An accurate family health history is a valuable tool to
illustrate how conditions are passed down through generations.

A person has two copies of almost every gene, one copy from mom and one copy from
dad. Scientists have studied human genes to learn how they normally work and how
changes in genes can change how they work. Some changes are very minor and do not
affect the way a gene works. These changes are often called single nucleotide
polymorphisms (SNPs, pronounced “snips”) or gene variants. Other changes, called
mutations, affect how a gene works and can lead to disease.

For some conditions, family members with the same mutation may not have the same
symptoms. For other conditions, individuals with different mutations can have similar
characteristics. This is because gene expression is influenced by genes, as well as by
the environment.

Diseases caused by mutations in a single gene are usually inherited in a simple pattern,
depending on the location of the gene and whether one or two normal copies of the gene
are needed. This is often referred to as Mendelian inheritance because Gregor Mendel
first observed these patterns in garden pea plants. Most single gene disorders are rare;
but, in total, they affect millions of people in the United States.

Several basic modes of inheritance exist for single-gene disorders: autosomal dominant,
autosomal recessive, X-linked dominant, and X-linked recessive. However, not all
genetic conditions will follow these patterns, and other rare forms of inheritance such
as mitochondrial inheritance exist. (See table at the end of this section.)

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QUIRINO STATE UNIVERSITY
DIFFUN CAMPUS
Diffun 3401, Quirino
LABORATORY HIGH SCHOOL

Inheritance Characteristics Disease Examples

Pattern

Autosomal Each affected person usually has an Huntington’s disease,

Dominant affected parent; occurs in every neurofibromatosis,
generation achondroplasia, familial
hypercholesterolemia

Autosomal Both parents of an affected person are Tay-Sachs disease, sickle cell
Recessive carriers; not typically seen in every anemia, cystic fibrosis,
generation phenylketonuria (PKU)

X-linked Females are more frequently affected Hypophatemic rickets

Dominant because all daughters and no sons of
an affected man will be affected; can
have affected males and females in
same generation if the mother is
affected
(vitamin Dresistant rickets),
ornithine transcarbamylase
deficiency

X-linked Males are more frequently affected; Hemophilia A, Duchenne

Recessive affected males often present in each muscular dystrophy
generation

Mitochondrial Can affect both males and females, but Leber’s hereditary optic
only passed on by females because all neuropathy, Kearns-Sayre
mitochondria of all children come from syndrome
the mother; can appear in every
generation

Dominant mutations are expressed when only one copy of that mutation is present.
Therefore, anyone who inherits one dominant disease mutation such as the mutation
for Huntington’s disease will have that disease. Dominantly inherited genetic diseases
tend to occur in every generation of a family. Each affected person usually has one
affected parent. However, dominant mutations can also happen in an individual for the
first time, with no family history of the condition (spontaneous mutation).

Recessive mutations require two mutated copies for disease to develop. Recessive
genetic diseases are typically not seen in every generation of an affected family. The
parents of an affected person are generally carriers: unaffected people who have a copy
of a mutated gene. If both parents are carriers of the same mutated gene and both pass
it to the child, the child will be affected.

Inheritance patterns differ for genes on sex chromosomes (chromosomes X and Y)

compared to genes located on autosomes, non-sex chromosomes (chromosomes
numbers 1-22). This is due to the fact that, in general, females carry two X
chromosomes (XX), while males carry one X and one Y chromosome (XY). Therefore,
females carry two copies of each X-linked gene, but males carry only one copy each of
X-linked and Y-linked genes. Females carry no copies of Y-linked genes.

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QUIRINO STATE UNIVERSITY
DIFFUN CAMPUS
Diffun 3401, Quirino
LABORATORY HIGH SCHOOL

Diseases caused by mutated genes located on the X chromosome can be inherited in

either a dominant or recessive manner. Since males only have one X chromosome, any
mutated gene on the X chromosome, dominant or recessive, will result in disease.
Because females have two copies of X-linked genes, they will not be affected by
inheriting of a single recessive mutation on an X-linked gene. For X-linked recessive
diseases to occur in females, both copies of the gene must be mutated. Families with an
X-linked recessive disorder often have affected males, but rarely affected females, in
each generation.

For X-linked dominant diseases, however, a mutation in one copy of an X-linked gene
will result in disease for both males and females. Families with an X-linked dominant
disorder often have both affected males and affected females in each generation.

A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked

traits to their sons; fathers only pass X chromosomes to their daughters and Y
chromosomes to their sons. In contrast, mothers pass X-linked genes to both sons and
daughters.

ENRICHMENT ACTIVITIES
The last Emperor of Russia, Nicolas II, was married to Empress Alexandra, and they
had five children, Olga, Tatiana, Maria, Anastasia, and Alexis. Alexis was the only one
who was afflicted with hemophilia or the royal bleeding disease; all other members were
normal.
• Research on this medical condition and determine the mode of inheritance.
• If only Prince Alexis was afflicted with the disease, determine his genotype.
• What could be the genotypes of the Emperor and Empress?
• Is it possible that each daughter could have been a carrier?
*try to make a pedigree of the royal family

COMPREHENSION CHECK
Direction: Study the pedigree bellow and answer the following questions.

1. Explain why X-linked traits may occur more frequently in one sex over the other.
2. Explain what happens to the expression patterns if the trait is X-linked and
dominant.
3. A mother and father both carry the gene for cystic fibrosis. Complete a punnett
square to see how they will affect their offspring. Let C is normal and c is cystic
fibrosis.

Reference

Reece, J.B. 2013). Campbell Biology, 10th Ed. Pearson Education, Inc. United States of America

Try to open the following link

https://www.ncbi.nlm.nih.gov/books/NBK115561/
https://www.youtube.com/watch?v=a9qrCtDeXf4
https://www.youtube.com/watch?v=99A6v-5_sFg&t=625s
https://www.youtube.com/watch?v=e12A6y4QeyU

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