Sex Linkage and Recombination: Lesson 1.4
Sex Linkage and Recombination: Lesson 1.4
Sex Linkage and Recombination: Lesson 1.4
Lesson 1.4
Contents
Introduction 1
Learning Objectives 2
Warm Up 2
Key Points 20
Challenge Yourself 22
Photo Credit 24
Bibliography 24
Lesson 1.4
Introduction
Is the red or green color that you see similar to that of what other people see? Color is one
of the properties of objects that our minds interpret. It intensifies our appreciation of
things—from a colorful rainbow to an aesthetic painting. Colors help us understand more
the world around us and even give us increased capacity for survival. However, some
people are partially color-blind. Have you ever wondered how they can still distinguish
between different colors? How can they win a basketball game if the opponent team’s color
is light green and theirs is dark green? How can a color-blind biology student pass a moving
exam that involves the identification of differently-colored pins? How could color-blind
people cross a pedestrian lane safely if they cannot distinguish which is red, green, or
yellow on the stoplight? If you can determine the numbers in the Ishihara chart above, you
do not belong to the small population of people who are color-blind. How do people
acquire this trait? Why is it more common in males than in females?
Warm Up
Material
● a device with an Internet connection
Procedure
1. By using your Internet-connected device, access the link below to take a color
blindness test.
2. Check each image in the test and identify what number is shown. If you think that
there is no number shown, click “nothing.” If you are not sure if there is a number,
click “unsure.”
3. After taking the test, form a group with at least five members. Identify who among
the members are color-blind.
4. Ask the members who are color-blind, if there are any, about the challenges they
face based on the situations below. If there is no color-blind person in the group,
brainstorm on the possible challenges that color-blind person might face based on
the provided circumstances.
a. cooking or food preparation
b. doing a job that requires color vision
c. using various shades of paints in an art class
5. After brainstorming, let your group share your ideas with the class.
Guide Questions
1. What is color blindness?
2. What are the challenges faced by a color-blind person?
3. What can you do to help a person who is color-blind?
4. How does a color-blind person’s view of the world differ with a person with normal
vision?
Recombination
All cells in humans, except sex cells, are composed of 46 individual chromosomes, which is
equivalent to 23 pairs (as shown in Fig. 1.4.1). Each pair of chromosomes consists of genes
for the same physical features such as hair color or skin color. Each copy of a certain pair of
chromosomes may contain similar or different alleles. For example, one copy may code for
straight hair, while the other copy may code for curly hair. These pairs of chromosomes are
known as homologous chromosomes, or ones that have the same genes even if they have
different alleles.
Fig. 1.4.1 Gametes have 23 chromosomes, whereas body cells have 46 chromosomes. The
number of chromosomes is reduced during meiosis and restored during fertilization.
Egg cells and sperm cells, unlike the other cells of the body, have only one copy of each
chromosome instead of two. Consequently, there are only 23 chromosomes in gametes
instead of 46. During gamete formation, cells undergo a process called meiosis. As shown in
Fig. 1.4.2, similar to mitosis, meiosis involves the duplication of the genetic material prior to
the actual division. However, the resulting daughter cells after meiotic division obtain one
copy of each chromosome instead of two. Furthermore, it is during this division that
homologous recombination occurs.
Fig. 1.4.2 Replication of the genetic material produces another copy of each member of the
homologous chromosomes.
The first part of meiosis involves the replication of chromosomes. This is shown in step 1 in
Fig. 1.4.3. The single copy of chromosomes will become two copies after replication.
Therefore, there will be two pairs of homologous chromosomes before meiosis progresses.
Steps 2 and 3 are the events when homologous chromosomes align and exchange genes
respectively. These steps involve the alignment of the pairs of homologs in an area known
as the metaphase plate and the exchange of genes between each of the members of the
homologous pairs.
Fig. 1.4.3 Homologous recombination occurs during the meiotic division. This is one of the
mechanisms in sexually reproducing organisms that enhance genetic variation.
Steps 4 and 5 show the result of recombination, which refers to new allele combinations
that can be inherited by the offspring. The recombinant chromosomes may or may not
resemble the original chromosomes. If the recombination of homologous chromosomes
does not occur, each copy that will be received by the daughter cells will be an exact copy of
the original chromosomes. Therefore, homologous recombination may increase genetic
diversity. This is the reason why you and your sibling looks different even if your genes are
inherited from the same parents.
Sex Linkage
Recall that humans have 23 pairs of chromosomes. The 1st to 22nd pairs are called the
autosomes, and the 23rd pair consists of the sex chromosomes. Two X chromosomes (XX)
are found in females, whereas one X and one Y chromosomes (XY) are found in males. Fig.
1.4.4 shows a human male karyotype consisting of autosomes and sex chromosomes.
Fig. 1.4.4 An example of a human karyotype showing the autosomal and sex chromosomal
pairs. Sex chromosomal combination varies between males and females.
Some of the genes that code for a certain trait can be located on the autosomes, while
others are located on the sex chromosomes. Genes located on the sex chromosomes are
called sex-linked genes, so their phenotypic manifestation and inheritance patterns may
vary between males and females.
Sex-Linked Traits
Genes that are located in either sex chromosomes are known as sex-linked genes. When
a trait is controlled by a gene in the X chromosome, it is called an X-linked trait. If the
trait is controlled by a gene in Y chromosome, it is called a Y-linked trait.
X-Linked Traits
X-linked traits are more common in males than in females. This is because males have
only one X chromosome. Therefore, if a trait is linked to their single X chromosome, they
will already exhibit it in their phenotype. In females, X-linked traits are less common,
since females have two X chromosomes. It means that before a female expresses the
X-linked trait, the allele for the trait should be found in both X chromosomes. If only one of
the chromosomes is affected, the female is said to be a carrier of the trait but does not
express it in her phenotype.
Generally, X-linked traits are more common in males, because they have a 1/2 or 50%
chance (50% chance of being normal or 50% chance of possessing the X-linked trait) to
express the trait. Females only have 1/3 or 33.3% chance (33.3% chance of being normal,
33.3% chance of being a carrier, and 33.3% chance of manifesting the X-linked trait) of
acquiring the trait.
Fig. 1.4.5 shows a pedigree chart of a sex-linked disorder. This pedigree chart shows the
inheritance of an X-linked disorder where the first-generation father is normal while the
mother is a carrier. These are shown by a fully shaded blue box and a half-shaded circle,
respectively. Refer to the legend on the upper-left side as a guide to interpret the chart.
Fig. 1.4.5 Pedigree charts show a detailed history of the transmission of genetic disorders.
In the above pedigree, the X-linked gene for the disorder tends to be passed from the
mother to both sons and daughters. By contrast, fathers only pass the gene to their
daughters.
The pedigree chart shows that even if the mother is just a carrier of the trait and the
father is normal, there is still a possibility that they will have an offspring with an X-linked
trait. The number of fully-shaded red boxes represents a higher chance of possessing the
X-linked trait in males.
green (dichromatism), while others still see colors but find it difficult to distinguish
shades of a certain color (anomalous trichromatism). This condition is inherited and
affects males more than females. The Ishihara chart below (Fig. 1.4.6) is used as a test
for color blindness. It is named after its inventor, a Japanese ophthalmologist named
Shinobu Ishihara. Each chart is composed of colored dots and a number or object. The
patient must be able to identify the number, or image, that is supposed to be visible in the
chart.
Fig. 1.4.6 There are eight Ishihara charts available for testing color blindness in humans.
Fig. 1.4.7 Genetically normal individuals are phenotypically healthy people because of
normal blood clotting during injury. By contrast, hemophilic individuals may suffer blood
loss.
Hemophilia is sometimes termed as the “royal disease” because the royal families of
England, Germany, Russia, and Spain in the 19th and 20th centuries were affected by this
condition. Queen Victoria of England, who ruled from 1837 to 1901, was a carrier of
hemophilia. Her husband, Prince Albert, was not hemophilic. As shown in the pedigree
chart of the royal family below (Fig. 1.4.8), three out of nine children of Queen Victoria
inherited the trait. Her son Leopold died because of a hemorrhage when he was 30. Her
other two daughters who inherited the trait, Alice and Beatrice, passed the trait onto their
offspring. The pedigree chart of the royal family shows that hemophilia, an X-linked trait, is
really more common in males than in females.
Fig. 1.4.8 A truncated pedigree chart of Queen Victoria's descendants gives emphasis on
the paths of the hemophilia gene in succeeding generations.
Y-Linked Traits
Y-linked traits are only seen in males since only males have a Y chromosome. Therefore, if
the father possesses the Y-linked trait, all the male offspring will acquire the trait. The
female offspring will never acquire and express the trait. An example is the hypertrichosis
pinnae auris trait. This trait is characterized by having hairy ears.
In males, once their X chromosome has the allele for an X-linked trait, they will already
express that trait. This is because males only have one X chromosome. The table below
(Table 1.4.1.) shows the possible genotypes for color blindness. The same genotypes will
be used for hemophilia, but the letter C attached to the sex chromosome will be changed
into H.
Table 1.4.1. Possible color blindness genotypes and phenotypes of males and females
Female Male
In a Y-linked trait, only males will express the trait. They have a 50% chance of being
normal and 50% chance of having the Y-linked trait. In females, there is a 0% chance of
acquiring the trait. This is because females do not have Y chromosomes.
Let’s Practice!
Example 1
Anna, who is a carrier of hemophilia, marries Juan, a man without hemophilia. Identify the
phenotype of their possible offspring.
Solution
Step 1: Identify the genotypes of both parents.
Anna is a carrier of hemophilia. → XHX
Juan is normal. → XY
Anna
XH X
X XHX XX
Juan
Y XHY XY
1 Try It!
Identify the phenotype of the possible offspring of a color-blind woman married to a
man with normal color vision.
Example 2
Marie, a single mom, claimed that John was the father of her child. John denied it, claiming
that Marie’s current boyfriend was the father. Marie is color-blind, while John has normal
vision, and the daughter is color-blind. Is it possible that he is the father?
Solution
Step 1: Identify the genotypes of both parents.
Marie is color-blind. → XCXC
John is normal. → XY
Marie
XC XC
X XCX XCX
John
Y XCY XCY
2 Try It!
Someone removed the ID bracelets of four babies in a maternity ward. The parents
want to be sure that they have the right ones back. A particular dad is hemophilic,
while his wife is normal. The first baby is a hemophilic female; the second is a normal
female; the third is a hemophilic male, and the fourth is a normal male. Which baby
must be theirs? Explain.
Example 3
There was a man who was acting strangely at a restaurant, so the police were called in.
When the police arrived, they noticed that the man was with a young girl. The man claims
that he is the girl’s father, but the girl is too young or too afraid to answer questions. The
young girl is color-blind, and the man has a normal vision. Is he telling the truth that he is
the father?
Solution
Step 1: Identify the genotypes of the father and the young girl.
The young girl is color-blind. → XCXC
The man has a normal vision. → XY
Step 2: Create a Punnett square. Do a trial and error of the possible genotypes
of the mother to check if there is a possibility that if the mother is
married to the man, one of the offspring will be a color-blind girl.
Possible Mother
XC XC
X XCX XCX
Man
Y XCY XCY
Possible Mother
XC X
X XCX XX
Man
Y XCY XY
Possible Mother
X X
X XX XX
Man
Y XY XY
3 Try It!
The mother of a baby girl died shortly after giving birth. The girl grew up without
knowing her biological father. This led her to hire a detective to locate her father. If
the mother is a carrier of hemophilia, and the girl is hemophilic, what characteristics
of the father should the girl expect from the detective’s report?
Sex-influenced traits can be found in both sexes but expressed more in one sex than
in the other. In other words, the manner of expression is different between sexes. An
example of this is the baldness trait. Baldness (coded by allele B) is more common in
males than in females because they have a 2/3 or 66.7% chance of acquiring the trait. As
shown in the table below, the possibility of a male to acquire the trait is 2 (Bb and Bb) out
of 3 genotypes. On the other hand, females only have 1/3 or 33.3% chance of acquiring
the trait. It is because the possibility of a female to acquire the trait is 1 (BB) out of 3
genotypes. This means that males will become bald if they have at least one copy of the
baldness allele. Females need two copies of baldness allele to become bald. Note in the
table below (Table 1.4.2.) that, because the trait is already autosomal, males and females
will have the same set of genotypes unlike that of in X-linked traits.
Table 1.4.2. Possible genotypes and corresponding phenotypes for male and females
differ in pattern baldness.
Female Male
BB Bald BB Bald
Bb Non-bald Bb Bald
bb Non-bald bb Non-bald
By contrast, genes for sex-limited traits can be found in both sexes but only one sex
expresses it on their phenotype. An example of this trait is the lactation trait or the
ability of the mammary glands to produce milk. The gene for this trait is found both in
males and in females. However, only the females express it in their phenotype. The table
below (Table 1.4.3.) shows that the trait (coded by allele R) is found in male genotypes but
any genotype could not express the lactation trait in the phenotype of males.
Table 1.4.3. Genotypes and corresponding phenotypes differ between sexes in lactation.
Female Male
Key Points
_____________________________________________________________________________________
2. An example of
this is the
lactation trait.
3. Traits are
expressed more
frequently in
one sex than in
the other.
4. Traits are
expressed
exclusively in
one sex.
5. An example of
this is the
hypertrichosis
pinnae auris
trait.
B. Compute for the probability of the indicated offspring given the parental
genotypes or phenotypes.
Challenge Yourself
1. Liza Normal rr Bb
2. Kath Carrier RR bb
3. Nadine Carrier Rr Bb
4. James Color-blind RR bb
5. Daniel Color-blind rr Bb
6. Enrique Normal Rr BB
Photo Credit
Eight Ishihara charts for testing colour blindness, Europe Wellcome L0059163.jpg by
Wellcome Images is licensed under CC-BY 4.0 via Wikimedia Commons.
Bibliography
Johnson, G.B., and Raven, P.H. 2001. Biology: Principles & Explorations. Austin: Holt, Rinehart,
and Winston.
Klug, W.S., Spencer, C.A., and Cummings, M.R. 2016. Concepts of Genetics. Boston: Pearson.
Reece, J.B. and Campbell, N.A. 2011. Campbell Biology. Boston: Benjamin
Cummings/Pearson.
Starr, Cecie, Ralph Taggart, Christine A. Evers, and Lisa Starr. Biology: the Unity and Diversity
of Life. Boston, MA: Cengage, 2019.
Mother
XC XC
X XCX XCX
Father
Y XCY XCY
The possible offspring will be 100% carrier female and 100% color-blind male.
2. Someone removed the ID bracelets of four babies in a maternity ward. The parents
want to be sure that they have the right ones back. A particular dad is hemophilic,
while his wife is normal. The first baby is a hemophilic female; the second is a
normal female; the third is a hemophilic male, and the fourth is a normal male.
Which baby must be theirs? Explain.
Mother
X X
XC XCX XCX
Father
Y XY XY
Their baby must be the normal male since it is the only possible offspring that
would result from the cross.
3. The mother of a baby girl died after giving birth. The girl grew up without knowing
her biological father. This led her to hire a detective to locate her father. If the
mother is a carrier of the hemophilia trait, and the girl is hemophilic, what
characteristics of the father should the girl expect from the detective’s report?
Mother
XH X
XH XHXH XHX
Father
Y XHY XY
Mother
XH X
X XHX XX
Father
Y XHY XY
The girl should expect her father is hemophilic since it is the only
possible genotype of the father that will result in an offspring who is a hemophilic
female.