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MARIA LILIBETH S. FUERTES

Teacher III
Recall:
 Recall:

Gregor Johann Mendel

-was an Austrian monk
-born in 1822 to peasant parents
-was educated in a monastery and went on
to study science and mathematics at the
University of Vienna
-initiated a series of experiments on plant
hybridization in the garden monastery in
Brunn, Austria (now Brno, Czech Republic)
 Recall:
Why did Mendel choose the garden pea (Pisum
sativum)?
First, it is easy to cross different varieties and Mendel
knew that he could expect to observe segregation of
traits among the offspring.
Second, a large number of true-breeding varieties of
peas were available.
Third, pea plants are small and easy to grow, and they
have a relatively short generation time.
Fourth advantage of studying peas is that the sexual
organs of the pea are enclosed within the flower.
The flowers of peas, like those of many flowering
plants, contain both male and female sex organs.
 Recall:

Mendel’s First Law of Heredity: The Law of

Segregation

Its central assumption— that alternative alleles of

a character segregate from each other in
heterozygous individuals and remain distinct.
The segregational behavior of alternative alleles
has a simple physical basis, the alignment of
chromosomes at random on the metaphase plate
during meiosis I.
 Recall:

Mendel’s Second Law of Heredity:

The Law of Independent Assortment

Genes that are located on different chromosomes

assort independently during meiosis.
Genes that assort independently of one another,
like the seven genes Mendel studied, usually do
so because they are located on different
chromosomes, which segregate independently
during the meiotic process of gamete formation.
 Recall:

Mendel’s Law of Heredity: The Law Dominance

It states that recessive alleles will always be masked

by dominant alleles. Therefore, a cross between a
homozygous dominant and a homozygous recessive
will always express the dominant phenotype, while
still having a heterozygous genotype..
 Vocabulary of Genetics
allele One of two or more alternative forms of a
gene.
diploid Having two sets of chromosomes,
which are referred to as homologues.
dominant allele An allele that dictates the
appearance of heterozygotes. One allele is said
to be dominant over another if a heterozygous
individual with one copy of that allele has the
same appearance as a homozygous individual
with two copies of it.
Epistasis A phenomenon in which there is an
interference on the expression of a gene by the
effect of an unrelated gene
gene The basic unit of heredity; a sequence of
DNA nucleotides on a chromosome that encodes
a polypeptide or RNA molecule and so
determines the nature of an individual’s inherited
traits.
genotype The total set of genes present in the
cells of an organism. This term is often also used
to refer to the set of alleles at a single gene.
haploid Having only one set of chromosomes.
heterozygote A diploid individual carrying two
different alleles of a gene on two homologous
chromosomes. Most human beings are
heterozygous for many genes.
homozygote A diploid individual carrying
identical alleles of a gene on both homologous
chromosomes.
locus The location of a gene on a chromosome.
phenotype The realized expression of the
genotype; the observable manifestation of a
trait (affecting an individual’s structure,
physiology, or behavior) that results from the
biological activity of the DNA molecules.
pleiotropic allele An individual allele which
have more than one effect on the phenotype.
recessive allele An allele whose phenotypic
effect is masked in heterozygotes by the
presence of a dominant allele.
Pedigree Making use of diagrams 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.
Autosomal trait. A trait whose alleles that
control it are found in the autosomes (body
chromosomes/ non-sex chromosomes)
Phenocopy A trait that is expressed due to specific
environmental conditions (i.e. having hair that is dyed
of a different color) and is not due to the genotype.
Identical twins Also known as monozygotic twins,
which are derived from a single fertilization event.
After the first cleavage or cell division of the zygote,
the cells or blastomeres separate and become
independent blastocysts implanted in the mother’s
uterus.
Fraternal twins Twins that are derived from separate
fertilization events (two eggs fertilized by two sperms)
within
MODE OF INHERITANCE

1. Autosomal Dominant Inheritance - One

mutated copy of the gene in each cell is sufficient
for a person to be affected by an autosomal
dominant disorder. In some cases, an affected
person inherits the condition from an affected
parent (a). In others, the condition may result
from a new mutation in the gene and occur in
people with no history of the disorder in their
family (b).

Examples: Huntington Disease, Marfan Syndrome

a.
b.
MODE OF INHERITANCE

2. Autosomal recessive Inheritance - In autosomal

recessive inheritance, both copies of the gene in each
cell have mutations. The parents of an individual
with an autosomal recessive condition each carry
one copy of the mutated gene, but they typically do
not show signs and symptoms of the condition.
Autosomal recessive disorders are typically not seen
in every generation of an affected family.

Examples: cystic fibrosis, sickle-cell disease

MODE OF INHERITANCE
3. X-linked dominant disorders - are caused by
mutations in genes on the X chromosome, one of the two
sex chromosomes in each cell. In females (who have two
X chromosomes), a mutation in one of the two copies of
the gene in each cell is sufficient to cause the disorder. In
males (who have only one X chromosome), a mutation in
the only copy of the gene in each cell causes the disorder.
In most cases, males experience more severe symptoms
of the disorder than females. A characteristic of X-linked
inheritance is that fathers cannot pass X-linked traits to
their sons (no male-to-male transmission).
Example: Fragile x syndrome
MODE OF INHERITANCE
4. X-linked recessive disorders - are also caused by
mutations in genes on the X chromosome. In males (who
have only one X chromosome), one altered copy of the
gene in each cell is sufficient to cause the condition. In
females (who have two X chromosomes), a mutation
would have to occur in both copies of the gene to cause
the disorder. Because it is unlikely that females will have
two altered copies of this gene, males are affected by X-
linked recessive disorders much more frequently than
females. A characteristic of X-linked inheritance is that
fathers cannot pass X-linked traits to their sons (no male-
to-male transmission).
Examples: Hemophilia, Fabry disease
MODE OF INHERITANCE

5. Y-linked - A condition is considered Y-

linked if the mutated gene that causes the
disorder is located on the Y chromosome, one
of the two sex chromosomes in each of a
male's cells. Because only males have a Y
chromosome, in Y-linked inheritance, a
mutation can only be passed from father to
son.
Examples: Y-Chromosome infertility and
Swyer syndrome
MODE OF INHERITANCE

6. Codominance - In codominant inheritance,

two different versions (alleles) of a gene are
expressed, and each version makes a slightly
different protein. Both alleles influence the
genetic trait or determine the characteristics of
the genetic condition.
Examples: ABO Blood group, Alpha-1
Antitrypsin deficiency
MODE OF INHERITANCE

7. Mitochondrial - also known as maternal

inheritance, applies to genes in mitochondrial DNA.
Because only egg cells contribute mitochondria to the
developing embryo, only females can pass on
mitochondrial mutations to their children. Conditions
resulting from mutations in mitochondrial DNA can
appear in every generation of a family and can affect
both males and females, but fathers do not pass these
disorders to their daughters or sons.
Example: Leber Hereditary Optic Neuropathy
(LHON)
MODE OF INHERITANCE
8. Multifactorial - means that "many factors" are
involved in causing a birth defect. The factors are
usually both genetic and environmental, where a
combination of genes from both parents, in addition to
unknown environmental factors, produce the trait or
condition. Often one gender (either males or females)
is affected more frequently than the other in
multifactorial traits. There appears to be a different
"threshold of expression", which means that one gender
is more likely to show the problem over the other
gender.
For example, hip dysplasia is nine times more common
in females than males.
SYMBOLS FOR CREATING PEDIGREE
I. Male (square) vs female (circle)
II. Affected (shaded) vs unaffected (unshaded)
individual
III. Marriage/mating line (line connecting mates) vs.
sibship line (line connecting siblings)
IV. Fraternal twins (one birthline branching out into
the individual twin) vs. identical twins (same as
fraternal twins but with a horizontal bar connecting
the branches)
V. Generation (Roman numerals) vs. individuals in
the same generation, counting left to right
(designated by Hindu-Arabic numerals)
VI. Proband (arrow)
A. Look at the family of IV-9 and IV-10. If the trait is
dominant, is it possible for them to have an affected offspring?
B. If the trait is recessive, is it also possible for IV-9 and IV-10
to have an unaffected offspring?
C. Based on your answers for a) and b), is the trait dominant or
recessive?
D. Give the genotypes of the following:
i. IV-9 iii. V-1 v. I-2
ii. IV-10 iv. I-1
E. If IV-9 and IV-10 were to have another child, what is the
probability that they will have an affected offspring?
A. Is this trait dominant or recessive?
B. What are the most probable genotypes of I-3 and I-4?
C. What are the most probable genotypes of II-4 and II-5?
D. What is the probability that II-4 and II-5 will have another
normal offspring?
A. Is the trait dominant or recessive?
B. What are the most probable genotypes of I-1 and I-2?
C. What is the probability that II-2 is Dd?
D. What is the probability that II-1 and II-2 will have
another normal offspring?
A. Is the trait dominant or recessive?
B. What are the genotypes of I-1 and I-2?
C. What is the probability that I-1 and I-2 will have an affected
offspring?
D. What are the genotypes of I-3 and I-4?
E. What is the probability that II-6 is Dd?
References:

https://www.google.com.ph/imgres?imgurl=http://www.brusselsgenetics.be/media/
images/illustraties/BIJKOMEND-multifactorieel_en_orig.jpg
https://ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns