Color Index:
Modes of Inheritance
IV Editing File
• Main Text • Important • Female slides • Male slides • Doctor’s notes • Extra info
“Success is the sum of small efforts, repeated.”
Objectives
Assess Mendel’s laws of inheritance
Understand the bases of Mendelian inheritance
Define various patterns of single gene inheritance using
family pedigree and Punnett square (tools that help us to
understand how genes are passed from one generation
to another)
Father of genetics
Born in 1822 Discovered some of
He was a monk and the basic laws of
teacher. heredity.
He published his He died in 1884 with
work entitled his work still
“Experiments on unnoticed, his work
Plant Hybrids” in was rediscovered in
1866 However, it was 1900.
largely ignored.
Interpreting the outcomes of Mendel’s breeding
experiments:
• The plant characteristics being studied were each controlled by a pair of factors (genes) , one of which was
inherited from each parent.
• The pure-bred plants, with two identical genes, used in the initial cross would now be referred to as homozygous.
• The hybrid F1 plants, each of which has one gene for tallness and one for shortness, would be referred to as
heterozygous.
• The genes responsible for these contrasting characteristics are referred to as allelomorphs, or alleles for short.
Team 434: An individual
inherits 2 alleles for each
gene (character), one from
each parent. If the 2 alleles
are the same, the individual
is homozygous for that
gene. If the alleles are
different, the individual is
heterozygous.
Genotype
Homozygous (same alleles)
For dominant alleles e.g. AA. For
recessive alleles e.g. aa.
Heterozygous (different alleles)
It’s combination of recessive and
dominant alleles e.g. Aa.
()ﻓَﺈِنﱠ َﻣ َﻊ ا ْﻟ ُﻌ ْﺴ ِﺮ ﯾُ ْﺴﺮًا( )إِنﱠ َﻣ َﻊ ا ْﻟ ُﻌ ْﺴ ِﺮ ﯾُ ْﺴﺮًا
. [5,6 :]ﺳﻮرة اﻟﺸﺮح
Punnett square
1 Each parent
can only
contribute
one allele per
gene.
2
These genes
are found on
the
chromosomes
of gametes of
parents.
3Offspring
will inherit 2
alleles to
express that
gene.
Law of Dominance or Uniformity Team 437:
In a cross of parents that are
pure for contrasting traits,
only one form of the trait will
appear in the next generation
All offspring will be
heterozygous and express
only the dominant trait.
1 COMPLETE DOMINANCE: one
allele is dominant to another
allele
Dominant
homozygous
2 Recall Mendel’s 1st experiment.
3 CROSS: Pure-bred purple female x
White male. Recessive
homozygous
4 P1 generation = PP x pp
Genotype: ratio = 1Pp , percentage = 100% Pp
5 F1 generation
Phenotype: ratio = 1 purple , percentage = 100% purple
Law of Segregation:
For every trait, there are two
alleles that get segregated
and only one of these is law of segregation:
passed to the offspring
Definition: Recall Cross P1 generation F1 generation
During the formation of Mendel’s 2nd experiment. Two F1 generation offspring = Pp x Pp
gamete, each gene separates with each other.
from each other so that each
gamete carries only one allele
for each gene. Genotype: Phenotype:
the alleles of a given locus
ratio = 1PP: 2Pp:1pp , ratio = 3 purple:1 white,
segregate into separate
gametes. ( Team 439 ) PCT = 25% PP, 50% Pp, PCT = 75% purple, 25%
25% pp white
Law of Independent Assortment
Definition Interpretation
● During gamete formation, ● In a dihybrid cross(which
different pairs of alleles means studying 2 traits
(different traits) segregate together) , each pair of
independently of each alleles assorts
other independently, during
gamete formation.
● In the gametes, Y is equally
likely to be found with R or
r (that is, Y R = Y r ); the
same is true for y (that is, y
R = y r). Team 436: - The alleles for different
● As a result, all four possible genes usually separate and
inherited independently of one
types of gametes ( Y R, Y r
another. - So, in dihybrid crosses
,y R, and y r ) are produced you will see more combinations of
in equal frequency among the two genes.
a large population.
THE CHROMOSOME THEORY OF INHERITANCE AND
SEX CHROMOSOMES
How chromosomal transmission is related to the patterns of
inheritance observed by Mendel?
Mendel’s law of segregation can be explained by the segregation
of homologs during meiosis
The two copies of a gene are contained on
homologous chromosomes. (chromosomes
carrying the same gene/coding for the same
trait)
In this example using pea seed color, the two alleles
are Y (yellow) and y (green).
During meiosis, the homologous chromosomes
segregate from each other, leading to segregation of the
two alleles into separate gametes.
Mendel’s law of Independent assortment can be explained by the random
alignment of bivalents during metaphase of meiosis I
● This figure shows the assortment of two genes
located on two different chromosomes, using pea
seed color and shape as an example (Yy (for the
doctor’s note: color) Rr (for the shape)).
Bivalents mean Y—> yellow color (dominant)
having two sets y —> green color (recessive)
R —> Round shape (dominant)
of
r —> wrinkled shape (recessive)
chromosomes/
● During metaphase of meiosis I, different possible
diploid.
arrangements of the homologs within bivalents can
lead to different combinations of the alleles in the
resulting gametes.
● For example, on the left, the dominant R allele has
sorted with the recessive y allele; on the right, the
dominant R allele has sorted with the dominant Y
allele.
Modes of Inheritance for single gene disorder
Autosomal Sex Linked
X Linked Y linked
Recessive Dominant
Recessive Dominant
A Pedigree Analysis
Autosomal Dominant Family tree of an autosomal
dominant mode of inheritance
● The trait (character, disease) appears in every
generation
● Unaffected persons do not transmit the trait to
their children
● Examples: Huntington disease, Myotonic
dystrophy, Neurofibromatosis type 1, Marfan
syndrome etc.
Note the presence of male-to-male (i.e. Father son)
transmission (this is a key feature for Autosomal Dominant)
Autosomal Recessive
Mother
1) Both Parents Heterozygous: Father
A a
1-The trait (character, disease) is recessive (when both genes 25% offspring “affected Homozygous A AA Aa
recessive”
are recessive) 50% Trait “Heterozygous normal but a Aa aa
2-The trait expresses itself only in homozygous state carrier”
25% Normal Homozygous Dominant
3-Unaffected persons (heterozygotes) may have affected 2) One parent
Mother
Father
A a
children (if the other parent is heterozygous) Heterozygous:
(Mother) A AA Aa
4-The parents of the affected child may be related and the other is normal
50% normal but carrier “Heterozygous” A AA Aa
(consanguineous) 50% Normal
5-Males and female are equally affected
3) One parent Homozygous: Mother
• Examples: (Father) Father
A A
Cystic fibrosis, Phenylketonuria, Sickle cell anaemia, and the other is normal
a Aa Aa
100% offspring carriers.
Thalassaemia etc.
a Aa Aa
Autosomal Recessive
Family tree of an Autosomal recessive disorder Sickle cell disease (SS)
Unaffected parents
have affected an
offspring here
( it's the condition in
which one parent is
heterozygous and the
other parent is also
heterozygous) so you
immediately
recognize that this is
an autosomal
recessive pedigree
Sex-Linked Inheritance
• This is the inheritance of a gene present on the sex chromosomes.
• The Inheritance Pattern is different from the autosomal inheritance.
• Inheritance differs in males from females.
There are 2 types of Sex-Linked Inheritance: Father X *Y
Mother
1) Y-Linked Inheritance: X XX *XY
• The gene is on the Y chromosomes
• The gene is passed from fathers to sons only X XX *XY
• Daughters are not affected
• Hairy ears in India
• Male are Hemizygous(it means only one gene is responsible for the expression of a
disease), and the condition exhibits itself whether dominant or recessive
2) X-Linked Inheritance:
• The gene is present on the X chromosome
• The Inheritance Follows Specific Pattern
• Males have one X chromosome, and are hemizygous
• Females have 2 X chromosomes, they may be homozygous or heterozygous
• These disorders may be: recessive or dominant
Sex-Linked Inheritance
Mother X X
1) Normal Female, Affected Male
Father
All sons are normal *X X*X X*X
1) X-Linked Recessive Inheritance: All daughters are carriers “not
affected”
Y XY XY
• The incidence of the X-linked disease is higher in
male than in female (because males have only one X Mother *X X
chromosome) Father
• The trait is passed from an affected man through 2) Carrier Female, Normal Male
all his daughters to half their sons 50% of sons are affected X *XX XX
• The trait is never transmitted directly from father 50% of daughters are carriers
to sons “not affected” Y X*Y XY
• An affected women has affected sons and carrier
daughters
X - Linked Recessive Disorders: Mother *X *X
Albinism, Fragile X syndrome, Hemophilia, Muscular 3). Homozygous Female, Normal Father
dystrophy, Retinitis pigmentosa Male
All sons are affected
X X*X X*X
All daughters are carriers “not
affected’ Y X*Y X*Y
Sex-Linked Inheritance
Mother X X
1- Normal Female, Affected
Father
Male *X X*X X*X
All sons are normal
2) X-Linked Dominant Disorders: Y XY XY
All daughters are affected
• The gene is on X Chromosome and is dominant
• The trait occurs at the same frequency in both
males and females
• Hemizygous male and heterozygous females Mother *X X
express the disease. Father
Homozygous females will definitely express the disease 2-Affected Female
X *XX XX
(heterozygous), Normal Male
50% of sons are affected
Y X*Y XY
50% of daughters are affected
Take Home Message
• An Accurate Determination Of The Family Pedigree is an important part
of the workup of every patient
• Pedigree For Single-gene disorders may demonstrate a straightforward,
typical mendelian inheritance pattern
• These patterns depend on Location Of The Gene locus on the
chromosomal, which may be autosomal or sex chromosome-linked, and
whether the phenotype is dominant or recessive
MCQs:
1 The law of Mendel which describes the separation of two alleles independently is:
A- Law of Independent assortment. B- Law of Segregation. C- Law of Dominance. D- Law of Codominance
2What is the law of dominance?
A-Autosomal Dominant B-Autosomal Recessive C-One allele dominant to another D-One allele recessive to another
3Hairy ears is India is an example of?
A-X-linked Inheritance B-Y-Linked Inheritance C-Autosomal Dominant D-Autosomal Recessive
4Affected male with X-linked Dominant disease and normal female, their sons will be:
A-100% normal B-50% normal 50% affected C-50% normal 25% carrier D-100% Affected
25% affected
5 Changes in the Y chromosome will lead to infected: 6-A
5-B
A-Both female and male B-Male only C-Female only D-None 4-A
6 Sex-linked disorders
3-B
2-C
A- Higher in male B-Higher in Female C- Both have equal chance D-Depends on the disease 1-A
Meet our team!
Aleen Muneif Omar Albaqami
Rose Alsanie Khalid Alkanhal
Lama Alhayan Faisal Bakri
Marwah Fal Faisal Alghamdi
Najd Albawardi Ziyad Bukhari
Jana
Alomairini
Leaders Abdulrahman
Alhusayni
