BIO0415/Chapter 12/S1/2020-21

CHAPTER 13
GENETIC CHANGE AND VARIATION

13.1 Origin of variation

● Variation: difference in characteristics of organisms belonging to same

species
● Variation due to:
(i) Genetic factors
o ___________________________________________________
(ii) Environmental factors
o ___________________________________________________

(See Figure 13.11 &13.12, Campbell 11th ed, pages 315 – 316)

(1) Independent Assortment

● Number of possible combination when chromosome assort
independently into gametes = 2n
● n = chromosome haploid number.

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● In human, number of possible combinations of maternal and paternal

chromosomes in resulting gametes is 223 ≈ 8 million.

(2) Crossing Over

● Crossing over produces recombinant chromosomes, which combine
genes inherited from two parents.
● Thus, each individual chromosome in a gamete would not be
exclusively maternal or paternal in origin.

(3) Random Fertilization

● Human ovum and sperm each represent one of approximately 8 million
possible chromosome combination
● Thus, any two parents will produce a zygote with any of about 223 x 223
diploid combinations ≈ 70 trillion.

13.2 MUTATION
● Mutation: a random change in a gene or chromosome resulting in a new trait
or characteristic that can be inherited.
● Organism with characteristics changed by mutation= ____________.

Somatic Mutation
● In somatic cells.
● Inherited by daughter cells produced by mitosis.
● ________________________________________________________
● May give rise to uncontrolled growth or mass of cells called
________________________

Germ Cells Mutation

● In gametes/cell that gives rise to gametes.
● Occurs by meiosis in reproductive, germinal tissues.
● ________________________________________________________
● May be transmitted to offspring and future generations
How mutations occur:

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(a) Due to errors during DNA replication/repair/recombination =

____________________________
(b) May be induced by mutagen -
(i) Physical mutagens:
o High-energy radiation, e.g., X-rays & uv light – breaks up the
DNA.
(ii) Chemical mutagens that:
o Some resemble bases in normal DNA & when substituted into DNA,
causes incorrect base-pairing during replication
▪ Example: ______________________________________
o Others alter structures of bases & when be substituted into DNA,
interrupts replication.
▪ Example: ______________________________________
o Others insert between bases - causes frameshift mutation.
▪ Example: ______________________________________
o Others damage DNA structure.
● Most mutagens are carcinogenic.

Types of Mutation
(a) Gene mutation
An alteration in the sequence of nucleotides in a DNA.
(b) Chromosomal mutation
Changes in the number of chromosomes in a cell or changes in the structure
of a chromosome

13.3 Gene mutation

(See Figure 17.27, Campbell 11th ed, pages 407 – 410)

o An alteration in the sequence of nucleotides in a DNA.

o Change can affect a single nucleotide pair or larger gene segments of a
chromosome.
o Change transmitted to mRNA during _________________.

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° Changes amino acids sequence of polypeptide chain during _____________.

° Point mutation - the most common type of gene mutation.

° Changes a single nucleotide base pair.

° Types of point mutation – Substitution, , Insertion, and Deletion.

Type of Point Mutation

(a) Substitution
● Substitution: Replacement of one nucleotide and its partner with another pair
of nucleotides.
● May cause:
(i) Silent mutations: nucleotide-pair substitution results in codon coding
for same amino acid - _________________________.

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(ii) Missense mutations: nucleotide-pair substitution results in codon

coding for different amino acid.

o Little effect on protein produced because amino acid:

• may be changed to another with similar properties.
• may occur in a region where exact amino acid sequence is not
essential for function.

(iii) Nonsense mutations: Amino acid codon changed into a

_________________ – forming shorter, nonfunctional protein.

● Other effects of base-pair substitutions:

° May affect protein’s function, e.g., if changes occur at active sites.
° May produce protein with improved capabilities.
● Example: Sickle-cell disease - Change in single nucleotide from T to A
in DNA template leads to production of abnormal hemoglobin:
° HbA = ___________________________________
° HbS = ___________________________________

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o HbS produce sickle cells which lower amount of O2 transported.

o Sickle cell:
▪ ruptures easily causing haemolytic anemia.
▪ block capillaries – interferes with blood flow to various organs

b) Insertion
● Insertion: ________________________________________________
● Produces new sequence of codons at and after point mutation.
● Causes a frameshift mutation:
o May alter triplet grouping of genetic message
o Causes extensive missense, ending sooner (premature termination) or
later in nonsense.
o All amino acids at and after point of mutation are substituted
o Proteins produced are non-functional unless frameshift occurs:
a) _________________________________
b) _________________________________

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● Example: Tay Sach Disease

o Autosomal recessive genetic disorder - caused by accumulation of harmful
quantities of ganglioside in brain and nerve tissues.
o Due to deficiency of enzyme, beta-hexosaminidase A.
o Insertion of 4 base pairs in exon 11 of the hexoseaminidase gene,
results in a frame shift mutation.

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c) Deletion
● Deletions: Loss of nucleotide pairs in a gene.
● Causes _________________________.

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● Example:
(a) Cystic fibrosis - caused by small deletion in a gene encoding a protein
• a defective gene causes a thick, buildup of mucus in the lungs,
pancreas and other organs.
• leading to infections, extensive lung damage and eventually,
respiratory failure.
• In the pancreas, the mucus prevents the release of digestive
enzymes that allow the body to break down food and absorb vital
nutrients.
(b) Alpha Thalassemia
° Caused by mutations in DNA of cells that make hemoglobin.
° Disrupt hemoglobin production, resulting in:
i. ______________________________________________
ii. _______________________________________________
° Causes anemia.
° Governed by a pair of codominant alleles:

• TmTm : Severe anemia (Thalessemia major).

• TmTn : Mild anemia (Thalessemia minor).

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• TnTn :_________________________

13.4 Chromosomal mutation

● Changes in:
(a) Chromosome structure
(b) Chromosome number
● Changes are most often brought on by problems that occur during meiosis or
by mutagens.
● May affect several genes.
● Effect more profound than gene mutation.
● May result in:
1. Change in quantity of genetic materials
2. __________________________________________

13.4.1 Changes in chromosome structure

(See Figure 15.14, Campbell 11th ed, pages 357-358)

● Breakage of a chromosome can lead to four types of changes in chromosome

structure: deletion, duplication, inversion, and translocation.
● Crossing over produces new allele sequence in recombinants, but no gene
loci are lost.
● Translocation - __________________________________
● Deletion & duplication - ____________________________________

(i) Deletion
● Deletion = A deficiency in a chromosome resulting from the loss of a
fragment through breakage.
● This chromosome will be missing certain genes.
● May affect 1 of a homologous pair or both homologous chromosomes – effect
usually lethal.

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● Example: cri-du-chat syndrome

o Deletion in __________________.
o Severely intellectually disabled, has small head with unusual facial
features.
o Has a cry that sounds like a cat’s meow.
o ___________________________________________________
o 1 in 100,000 births.

(ii) Duplication
● Duplication = An aberration in chromosome structure due to fusion with a
fragment from a homologous chromosome, such that the a portion of the
chromosome is duplicated.
● Thus, chromosome has _____________________________________

● Example 1: Allele for Drosophila eye shape, Bar-eyes. Normal eyes are
________________________.

(iii) Inversion
● Inversion = an aberration in chromosome structure resulting from
reattachment of a chromosomal fragment in a reverse orientation to the
chromosome from which it originated.
● Position effect =Change of order of gene loci on chromosome resulting in
phenotypic changes

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(iv) Translocation
● An aberration in chromosome structure
● A chromosomal fragment breaks off and rejoins either at the:

i. ______________________________________________________

ii. ______________________________________________________

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● Example 1:
o Reciprocal translocation of chromosomes 9 and 22 produces a much
shortened chromosome 22 called the Philadelphia chromosome.

13.4.2 Changes in chromosome number

● Changes in chromosome numbers mainly due to errors during meiosis.
● Two types:
(i) Aneuploidy: loss or gain of single chromosome.
(ii) Euploidy (Polyploidy): increase in entire haploid sets of chromosome

13.4.2a Aneuploidy
● A chromosomal aberration in which ___________________ are present in extra
copies or are deficient in number.
● Due to ________________.
o Members of a pair of _____________________ do not separate properly
during meiosis I or sister chromatid fail to separate during meiosis II.
● _______________________.
● As a result:
o One gamete receives two of the same type of chromosome –
______________________
o Another gamete receives no copy – ________________________.

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● When these gametes fuse with normal gametes, zygote produced has odd
chromosome number

● Example :
o (n – 1) + (n) = (2n – 1) → ______________
o (n + 1) = (n) = (2n + 1) → ______________
● Non-disjunction may involve autosomes or sex chromosomes.

Non-disjunction of autosomes
(a) ____________________________
❖ 1 out of 700 children born in US.
❖ Individual has 2n + 1 = 47 chromosomes (extra chromosome 21).

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❖ Symptoms : mental retardation, reduced resistance to diseases,

congenital heart abnormalities, short stocky body and thick neck,
characteristic folds of skin over the inner corner of the eye.

b) ________________________
❖ Occurs in 2/104 live births.
❖ Most die within first 3 months.
❖ Characteristics: cleft lips and palate, small eyes, polydactyly, mental
and
developmental retardation, cardiac and other abnormalities.
Non-disjunction of sex chromosome
❖ Affects secondary sexual characteristics, fertility, and intelligence
(a) __________________________
❖ 1 in every 2500 female births.
❖ The only known viable monosomy in humans.
❖ Fails to menstruate at puberty, or fails to develop secondary sexual
characteristics, such as breast.
❖ They are sterile because their sex organs do not mature.
❖ Usually short in stature, & often have fold of skin around their neck.
❖ Most have normal intelligence but are frequently weak in mathematics
and spatial perception.
(b) ___________________________
❖ 1 in every 2000 live birth.
❖ Have male sex organs but testes are abnormally small.
❖ Mixed secondary sexual characteristics at puberty, including partial breast
development and broadening of hips.
❖ Sterile.
❖ Tend to be taller than average.
❖ Mild mental impairment – many fall in the normal range of intelligence.
(c) _______________________
❖ 1 in every 1000 live births.
❖ Healthy and cannot be distinguished from XX females except by
karyotype.

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❖ Usually have no detectable defects (normal appearance) except for a

relatively high incidence of below-normal intelligence (or mentally
retarded).
❖ Fertile & almost always bear normal XX or XY children.
13.4.2b Euploidy/Polyploidy

(See Figure 15.13,24.10, Campbell 11th ed, page 357,568)

● Euploidy: A chromosomal alteration in which an organism possess more

than 2 complete chromosome sets.

● Example:
o Triploid (3n) -___________________
o Tetraploid (4n) -_________________
o Pentaploid (5n) -_________________
● Common among plants and much less common among animals.
● Triploids (and other odd numbered polyploids) are sterile.
● Unable to undergo meiotic pairing- can’t produce chromosomally balanced
gametes.
● Polyploid plant can reproduce vegetatively.
● Polyploidy associated with advantageous features/improved traits:
increased size, hardiness, resistance to diseases = ____________
● Two forms of euploidy:
(a) _____________________
(b) _____________________

(a) Autopolyploidy
● Autopolyploids: Organisms having more than two sets of chromosome
derived from a single species.
● Autopolyploids can arise from:
(i) _______________________________________.
(ii) Union of unreduced gametes (due to nondisjunction of all
chromosomes).

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● Autopolyploids with even chromosome number are fertile.

● Examples:
o Potato (Solanum tuberosum):
Chromosome no. 4n = 48 (Basic no. n = 12)
o Banana (Musa sapientum):
Chromosome no. 2n = 22 & 3n = 33 (Basic no. n = 11)

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(b) Allopolyploidy/Amphidiploidy
● Allopolyploids: Organisms having more than 2 sets of chromosomes derived
from different species.
● F1 hybrids formed are sterile since their chromosome can’t form homologous
pairs during meiosis = ________________________
● Can become fertile if it undergoes __________________.
● Alternatively, union of unreduced gametes from different species also
produces a fertile F1 hybrid.

▪ Most allopolyploid species have diploid chromosome number = sum of diploid

numbers of their parental species.
● Example: _______________________

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o 3 wild grasses (wild wheat), all diploid species, have each contributed 1/3 of
the genome of the modern bread wheat.
o 2 natural hybridizations were involved which occurred about 7000 – 9000
years ago.

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