Sex-Linked Inheritance Explained

GOOD MORNING
EVERYONE!
We are the Group 10
Today we are going to talk about
SEX-LINKED INHERITANCE
1

OBJECTIVES
Learn what is sex-
linked inheritance.
At the end of the
discussion, the students
will be able to:
3

CONTENT
➜ Definition of sex-linked inheritance
➜ Examples of sex-linked genes.
➜ Process on how we inherited the genes
➜ Importance of knowing sex-linked
inheritance.
4

“
What is sex-linked
inheritance?
5

sex-linked inheritance
How is it that parents and the
offspring look similar?
The progeny shares some traits or
characteristics that are inherited from the
parents, and this passes on again to the next
generation. In a broader perspective,
everything is related to genes, genetics, and
heredity. In humans, this concept can be
understood clearly through sex-linked
inheritance.

sex-linked inheritance
 Sex-linked, as related to genetics, refers
to characteristics (or traits) that are
influenced by genes carried on the sex
chromosomes. In humans, the term often
refers to traits or disorders influenced by
genes on the X chromosome, as it
contains many more genes than the
smaller Y chromosome.
 These are traits that are found on either
one of the chromosomes that determine
sex, or the sex chromosomes.

How does one determine whether an
unborn baby is a male or a female?
8
➜ Males have XY chromosome and Females have XX
chromosomes. When a baby inherits the X
chromosome from the father and the X chromosome
from the mother, then the baby will be a female
baby. When a baby inherits the Y chromosome from
the father and the X chromosome from the mother,
then the baby will be a male baby.

How does one determine whether an
unborn baby is a male or a female?
9
➜ When you see the chromosomes, notice that it is the
Y chromosome that determines the sex-linked
inheritance of the baby.
➜ The Y chromosome of the male has a gene called
SRY (“sex-determining region of Y”).-It is this gene
that determines that a developing embryo will be a
male.

Sex cell inheritance patterns
for male and female children
10

genes
11
o A gene is a short piece of DNA. Genes
tell the body how to build specific
proteins.
o There are about 20,000 genes in each
cell of the human body.
o A person's genetic makeup is called a
GENOTYPE.

genes
12
o Genes are made of DNA. Strands of DNA make up part of
your chromosomes. Chromosomes have matching pairs of
1 copy of a specific gene. The gene occurs in the same
position on each chromosome.
o Genetic traits, such as eye color, are dominant or
recessive:
o Dominant traits are controlled by 1 gene in the pair of
chromosomes.
o Recessive traits need both genes in the gene pair to work
together.

genes
13
o Many personal characteristics, such as
height, are determined by more than 1
gene. However, some diseases, such as
sickle cell anemia, can be caused by a
change in a single gene.

It is the study of
heredity, the process of
a parent passing certain
genes to their children.
A person's appearance
-- height, hair color,
skin color, and eye
color -- is determined
by genes.
GENETICS
Other characteristics
affected by heredity are:
• Likelihood of getting
certain diseases.
• Mental abilities.
• Natural talents.
• An abnormal trait.
14

genetics
An abnormal trait (anomaly) that is passed down through families
(inherited) may:
➜Have no effect on your health or well-being. For example, the
trait might just cause a white patch of hair or an earlobe that is
longer than normal.
➜Have only a minor effect, such as color blindness.
➜Have a major effect on your quality or length of life.
➜For most genetic disorders, genetic counseling is advised. Many
couples may also want to seek prenatal diagnosis if one of
them has a genetic disorder.
15

o X-linked recessive traits that are not related to feminine
body characteristics are primarily expressed in the
observable characteristics, or phenotype of men.
o In women, a recessive allele on one X chromosome is often
masked in their phenotype by a dominant normal allele on
the other.
16

 There are about 1,098 human X-linked genes.
 Many of the non-sex determining X-linked genes are
responsible for abnormal conditions such as
hemophilia, Duchenne muscular dystrophy, fragile-X
syndrome, some high blood pressure, congenital night
blindness, G6PD deficiency, and the most common
human genetic disorder, red-green color blindness.
 X-linked genes are also responsible for a common
form of baldness referred to as "male pattern
baldness".
17

If a woman is a carrier of an X-linked recessive
allele for a disorder and her mate does not have
it, their boys will have a 50% chance of inheriting
the disorder. None of their girls will have it, but
half of them are likely to be carriers.
18

If a man has an X-linked recessive disorder and his
mate does not carry the allele for it, all of their girls
will be carriers. None of their boys will inherit the
harmful allele. Only girls receive X chromosomes
from their fathers.
19

20
SEX TRAITS can be categorized into three types of
inheritance: sex-limited, sex-linked, and sex-influenced..
 Sex-limited traits are traits that are visible only within one
sex. For instance, barred coloring in chickens normally is
visible only in the roosters.
 Sex-linked traits would be considered traits like sickle cell
anemia and color blindness. They are said to be linked
because more males (XY) develop these traits than females
(XX). This is because the females have a second X gene to
counteract the recessive trait. Thus, the trait is more likely to
be visible in the male.
 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.

21
GENETIC DISORDERS
Disorders in which genes play an important role
(genetic diseases) can be classified as:
o SINGLE-GENE DEFECTS
o CHROMOSOMAL DISORDERS
o MULTIFACTORIAL

 also called Mendelian disorder.
 caused by a defect in one particular gene. Single gene
defects are rare. But since there are many thousands of
known single gene disorders, their combined impact is
significant.
 There are 6 basic patterns of single gene inheritance:
a) Autosomal dominant
b) Autosomal recessive
c) X-linked dominant
d) X-linked recessive
e) Y-linked inheritance
f) Maternal (mitochondrial) inheritance
22
SINGLE-GENE DISORDER

 The abnormality or abnormalities usually appear in every
generation. Each time an affected parent, either male or female,
has a child, that child has a 50% chance of inheriting the disease.
 People with one copy of a recessive disease gene are called
CARRIERS. Carriers usually don't have symptoms of the disease.
But, the gene can often be found by sensitive laboratory tests
 Dominant inheritance means an abnormal gene from one parent
can cause disease. This happens even when the matching gene
from the other parent is normal. The abnormal gene dominates.
 Children who do not inherit the abnormal gene will not develop or
pass on the disease.
23
AUTOSOMAL DOMINANT INHERITANCE

 Examples of autosomal dominant disorders include :
Familial hypercholesterolemia
Marfan syndrome
25
AUTOSOMAL DOMINANT INHERITANCE

 The parents of an affected individual may not show the disease
(they are carriers).
 The chance that carrier parents could have children who
develop the disease is 25% with each pregnancy. Male and
female children are equally likely to be affected.
 For a child to have symptoms of an autosomal recessive
disorder, the child must receive the abnormal gene from both
parents.
 Because most recessive disorders are rare, a child is at
increased risk of a recessive disease if the parents are related.
RELATED INDIVIDUALS are more likely to have inherited the
same rare gene from a common ancestor.
26
AUTOSOMAL RECESSIVE INHERITANCE

 A 25% chance that the child is born with two normal genes
(normal)
 A 50% chance that the child is born with one normal and one
abnormal gene (carrier, without disease)
 A 25% chance that the child is born with two abnormal genes
(at risk for the disease)
SOME EXAMPLE OF AUTOSOMAL RECESSIVE INHERITANCE
 ADA deficiency (sometimes called the "boy in a bubble"
disease)
 Alpha-1-antitrypsin (AAT) deficiency
 Cystic fibrosis (CF)
 Phenylketonuria (PKU)
 Sickle cell anemia
28

29

X-LINKED DOMINANT INHERITANCE
30
 The abnormal gene appears in females even if there is
also a normal X chromosome present.
 Since males pass the Y chromosome to their sons,
affected males will not have affected sons. All of their
daughters will be affected, however.
 Sons or daughters of affected females will have a 50%
chance of getting the disease.

32
 For example, if there are four children (two boys and two
girls) and the mother is affected (she has one abnormal X
and has the disease) but the father does not have the
abnormal X gene, the expected odds are:
 Two children (one girl and one boy) will have the disease
 Two children (one girl and one boy) will not have the
disease
 If there are four children (two boys and two girls) and the
father is affected (he has one abnormal X and has the
disease) but the mother is not, the expected odds are:
 Two girls will have the disease
 Two boys will not have the disease

33
 Only a few, rare, disorders are X-linked dominant. One of
these is HYPOPHOSPHATEMIC rickets, also called vitamin
D -resistant rickets.

X-linked recessive
34
 The chance of getting the disease is much higher in males
than females. Since the abnormal gene is carried on the X
(female) chromosome, males do not transmit it to their
sons (who will receive the Y chromosome from their
fathers). However, they do transmit it to their daughters.
 In females, the presence of one normal X chromosome
masks the effects of the X chromosome with the
abnormal gene. So, almost all of the daughters of an
affected man appear normal, but they are all carriers of
the abnormal gene. Each time these daughters bear a
son, there is a 50% chance the son will receive the
abnormal gene.

X-linked recessive
36
 In recessive inheritance, both matching genes must be
abnormal to cause disease. If only one gene in the pair is
abnormal, the disease does not occur or it is mild.
 In each pregnancy, if the mother is a carrier and the father
has the disease, the expected outcomes are:
 25% chance of a healthy boy
 25% chance of a boy with the disease
 25% chance of a carrier girl
 25% chance of a girl with the disease
 If both the mother and the father have the disease, the
expected outcomes are:
 100% chance of the child having the disease, whether boy
or girl

X-linked recessive
37
X-LINKED RECESSIVE DISORDER:
 Duchenne
muscular
Dystrophy
 Hemophilia A

38
Y-linked inheritance
 In mammals, Y-linkage, also known as holandric
inheritance, is the determination of a phenotypic trait by
an allele (or gene) on the Y chromosome.
 Because the Y-chromosome is small and does not
contain many genes, few traits are Y-linked, and Y-linked
diseases are rare.
 Since the only humans who have a Y chromosome are
males, Y-linked traits are passed only from father to son,
with no interchromosomal genetic recombination.

MITOCHONDRIAL DNA-LINKED
DISORDERS
40
 Mitochondria are small structures found in most of the
body's cells. They are responsible for energy production
inside cells. Mitochondria contain their own private DNA.
 In recent years, many disorders have been shown to result
from changes (mutations) in mitochondrial DNA. Because
mitochondria come only from the female egg, most
mitochondrial DNA-related disorders are passed down from
the mother.
 These disorders are most often single gene defects. They
follow the same pattern of inheritance as other single gene
disorders. Most are autosomal recessive.

MITOCHONDRIAL DNA-LINKED
DISORDERS
42
Mitochondrial DNA-related disorders can appear at any age.
They have a wide variety of symptoms and signs. These
disorders may cause:
 Blindness
 Developmental delay
 Gastrointestinal problems
 Hearing loss
 Heart rhythm problems
 Metabolic disturbances
 Short stature

CHROMOSOMAL DISORDERS
43
In chromosomal disorders, the defect is due to either an
excess or lack of the genes contained in a whole
chromosome or chromosome segment.
CHROMOSOMAL DISORDERS INCLUDE:
 22q11.2 microdeletion syndrome
 Down syndrome
 Klinefelter syndrome
 Turner syndrome

MULTIFACTORIAL DISORDERS
45
Many of the most common diseases are caused by
interactions of several genes and factors in the
environment (for example, illnesses in the mother and
medicines). These include:
 Asthma
 Cancer
 Coronary heart disease
 Diabetes
 Hypertension
 Stroke

And tables to compare data
A B C
Yellow 10 20 7
Blue 30 15 10
Orange 5 24 16
46

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47

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48

Let’s review some concepts
Yellow
Is the color of gold, butter
and ripe lemons. In the
spectrum of visible light,
yellow is found between
green and orange.
Blue
Is the colour of the clear sky
and the deep sea. It is
located between violet and
green on the optical
spectrum.
Red
Is the color of blood, and
because of this it has
historically been associated
with sacrifice, danger and
courage.
49
Yellow
Is the color of gold, butter
and ripe lemons. In the
spectrum of visible light,
yellow is found between
green and orange.
Blue
Is the colour of the clear sky
and the deep sea. It is
located between violet and
green on the optical
spectrum.
Red
Is the color of blood, and
because of this it has
historically been associated
with sacrifice, danger and
courage.

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4000
3000
2000
1000
0

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Timeline
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DEC
NOV
OCT
SEP
AUG
JUL
JUN
MAY
APR
MAR
FEB
JAN
Blue is the colour of the
clear sky and the deep
sea
Red is the colour of
danger and courage
Black is the color of
ebony and of outer
space
Yellow is the color of
gold, butter and ripe
lemons
White is the color of
milk and fresh snow
sea
lemons
milk and fresh snow
sea
danger and courage
ebony and of outer
space
Yellow is the color
of gold, butter and
ripe lemons

Roadmap
59
1 3 5
6
4
2
sea
danger and courage
ebony and of outer
space
lemons
milk and fresh snow
sea

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Week 1 Week 2
1 2 3 4 5 6 7 8 9 10 11 12 13 14
Task 1
Task 2 ◆
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SWOT Analysis
61
STRENGTHS
Blue is the colour of the clear
sky and the deep sea
WEAKNESSES
Yellow is the color of gold,
butter and ripe lemons
Black is the color of ebony and
of outer space
OPPORTUNITIES
White is the color of milk and
fresh snow
THREATS

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