OUR LADY OF FATIMA UNIVERSITY — QC

COLLEGE OF ARTS AND SCIENCE — BS PSYCHOLOGY 3RD YEAR

PSYCHSOC EDUCATIONAL COMMITTEE (‘24-’25)

GENETICS (GENE311) 1.0 GENE MUTATIONS

Ms. Mayeth Mallorca | Week 12-15
POINT MUTATION
● one nucleotide is substituted for another
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FINALS TOPIC OUTLINE:

● DNA SEQUENCING AND MUTATION
● PEDIGREE AND INHERITANCE PATTERN
DNA SEQUENCING AND MUTATION
DNA SEQUENCING

● determining the nucleic acid sequence — the

FRAMESHIFT MUTATION
order of nucleotides in DNA
● involves insertion or deletion of a nucleotide in
DNA sequence

MUTATION
Some mutations affect a single gene, while others
affect an entire chromosome.
1. Mutation is a change in an organism's DNA
2. Mutations that affect a single gene usually
happen during replication
3. Mutations that affect group of genes or
chromosome happens during meiosis

MONCADA, H. | 1
 CHROMOSOMAL MUTATION ● Natural selection often removes
● GENE DELETION - the loss of all or part of a mutant alleles from a population when
they are less adaptive
chromosome
● GENE DUPLICATION - produces extra copies
of parts of a chromosome 3.0 MUTATIONS CAN BE CAUSED BY
● GENE INVERSION - reverse the direction of SEVERAL FACTORS
parts of chromosome 1. Replication errors may cause mutation
● GENE TRANSLOCATION - occur when part of 2. Mutagens, such as UV Rays and Chemicals,
one chromosome breaks off and attaches to can cause mutation
another 3. Some cancer drugs use mutagenic properties
to kill cancer cells
PEDIGREE AND INHERITANCE PATTERN
HUMAN CHROMOSOMES

KARYOTYPE
● individual’s complete set of chromosomes
● 46 chromosomes
- haploid: 23
- diploid: two complete sets of
chromosomes
● Sex chromosomes
- XX
- XY
● Autosomes
- body chromosomes
HUMAN TRAITS
TRAIT
2.0 MUTATIONS MAY OR MAY NOT AFFECT ● specific characteristic of an individual
THE PHENOTYPE PEDIGREE CHART
A. IMPACT ON PHENOTYPE ● shows the presence or absence of a trait
● Chromosomal mutations affect many within a family across generations
genes and greatly affect organisms
B. SOME GENE MUTATIONS CHANGE
PHENOTYPE
● Mutation may cause a premature stop
codon
● Mutation may change the protein
shape or the active site
● Mutation may change gene regulation
C. SOME GENE MUTATIONS DO NOT
PHENOTYPE
● A mutation may be silent
● A mutation may occur in a noncoding
region
● A mutation may not affect protein
folding or the active site
● Mutations in body cells do not affect
offspring
● Mutations in sex cells can be harmful
or beneficial to offspring
MONCADA, H. | 2
PEDIGREE CONVENTIONS

QUEEN VICTORIA'S FAMILY TREE WITH

HEMOPHILIA GENETIC MARKER

PEDIGREE ANALYSIS
● used to determine individual genotypes and to
predict the mode of transmission of
single-gene traits
SOLUTION
1. Analyze results of matings that have already
occurred
2. Collect history for a trait and assemble
information into a family tree-pedigree 1.0 MODE OF INHERITANCE PATTERN
3. Can help in predicting the traits of future
offspring AUTOSOMAL DOMINANT
● Due to dominant gene on an autosome
PEDIGREE CHARACTERISTICS
● A family tree showing the presence or - males and females are equally affected
absence of certain trait in question for each - every affected individual has at least one
member affected parent
- affected individuals mating with unaffected
individuals have at least 50% chance
transmitting the trait to each child
- two affected individuals may have an
unaffected children
- phenotype generally appears every
generation
DISEASES:
● Achondroplasia
● Huntington Disease
● Marfan Syndrome
MONCADA, H. | 3
 ● Tuberous Sclerosis
● Neurofibromatosis

E e

e Ee ee

e Ee ee
Ee - unshaded (unaffected)
ee - shaded (affected)

X-LINKED DOMINANT
● Due to a dominant allele on the
X-chromosome
A a
CHARACTERISTICS
a Aa aa - trait is never passed from father to son
- all daughters of an affected male and a
a Aa aa normal female are affected
- all sons of an affected male and a normal
Aa - shaded (affected) female are normal
aa - unshaded (unaffected) - females are more likely to be affected than
males
AUTOSOMAL RECESSIVE DISEASES:
● Due to a recessive gene on an autosome ● Rett syndrome
CHARACTERISTICS ● Fragile X syndrome
- males and females are equally affected
- affected individuals may have unaffected
parents
- all children of tao affected individuals are
affected
- phenotype may skip a generation
DISEASES:
● Cystic fibrosis
● Albinism
● Thalassemia
● Phenylketonuria
● Hemophilia (Type C)
● Sickle cell anemia

MONCADA, H. | 4
 - when a male is affected, all of his male
children are affected

X-LINKED RECESSIVE
● Due to a recessive allele on the
X-chromosome
CHARACTERISTICS
- trait is never passed from father to son
- males are more likely to be affected than
females
- trait or disease typically passed from an X YH
affected grandfather, through carrier
daughters, to half of his grandsons X XX XYH
DISEASES: X XX XYH
● Muscular Dystrophy
● Lesch Nyhan Syndrome XX = unshaded (unaffected)
● G6PD Deficiency XYH = shaded (affected)

MATERNAL (MITOCHONDRIAL) INHERITANCE

● transmission of genes that are located in
mitochondria (i.e., not contained in the nucleus
of the cell).
- Mitochondrial DNA (mtDNA)
● the affected mother will have all offspring
affected
● but if the father is affected, none of the
offspring will be affected
● group of conditions that affects the
mitochondria

Xd Y

X XdX XY

X XdX XY
MELAS
d
X X = shaded (affected) ● Mitochondrial Myopathy
XY = unshaded (unaffected) ● Encephalopathy
● Lactic Acidosis
Y-LINKED INHERITANCE ● Stroke-like Episodes
● Due to an allele on the Y-chromosome
CHARACTERISTIC

MONCADA, H. | 5
 A. DRAW THE PEDIGREE OF THE FAMILY

B. WHAT IS THE MODE OF INHERITANCE OF THE

PEDIGREE? Autosomal Recessive
C. WHAT ARE THE GENOTYPES OF THE INDIVIDUALS?
USE THE ALLELE A and a.

D. TEST CROSS
GENERATION II.
A a

A AA Aa

a Aa aa
GENERATION III.
X-LINKED - Affected mother = all sons
RECESSIVE are affected A a
- Criss cross inheritance =
grandfather through carrier a Aa aa
granddaughter to grandson
a Aa aa
X-LINKED - Affected father = all
DOMINANT daughters are affected
PREPARED AND ARRANGE BY:
- No skipping of generation

AUTOSOMAL - affected individuals have at

DOMINANT least one affected parent HAZEL A. MONCADA

AUTOSOMAL - affected individuals have PSYCHOLOGICAL SOCIETY OLFU-QC,

RECESSIVE unaffected parents EDUCATIONAL COMMITTEE
- skilling of generation
- sporadic CHECKED BY:

Y-LINKED - affected father = only sons

INHERITANCE are affected
Nicole P. Hernandez
MATERNAL - affected mother = all
INHERITANCE offspring affected
PSYCHOLOGICAL SOCIETY OLFU-QC,
- affected father = none
ASSISTANT HEAD OF EDUCATIONAL COMMITTEE
offspring affected

SAMPLE CASE STUDY

Two normally pigmented parents have 3 children. The first Lian Jill Magallanes
child (female) and their second child (male) have normal
pigmentation. Their third child (female) has Albinism. That PSYCHOLOGICAL SOCIETY OLFU-QC,
girl marries a normally pigmented male and has four OFFICER-IN-CHARGE OF EDUCATIONAL COMMITTEE
children. The first three (two girls and a boy) have normal
pigmentation. Their fourth child (a girl) has Albinism like
her mother.
MONCADA, H. | 6