Module 3 – Chromosomal Mutations

Chromosomal Mutations
Module 3

EXPECTED LEARNING OUTCOMES

3.1 Identify disorders and diseases that result from the malfunction of the cell during the cell
cycle.

THE BIG IDEA

Several factors, including faults in mitosis and meiosis, the environment, and even the
mother's age, are linked to chromosomal defects. Errors in the cell division process might result in an
abnormal chromosome structure or an incorrect number of chromosomes. The number, size, shape,
and banding patterns of chromosomes make them easily detectable in a karyogram, allowing for the
diagnosis of a wide range of chromosomal disorders. The cell cycle, mitosis, and meiosis are all closely
regulated to avoid mistakes, yet they aren't perfect. Three types of chromosomal mutations exist:
mutations on the structure of chromosomes, mutations on the chromosome number, and mutations
on the sex chromosomes.

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DEEPEN YOUR UNDERSTANDING

Disorders in Chromosome Number

Chromosome number irregularities are the easiest to

identify on a karyogram out of all the chromosomal disorders.
Duplication or loss of entire chromosomes, as well as
alterations in the number of full sets of chromosomes, are all
examples of chromosomal number disorders. Nondisjunction,
which happens when pairs of homologous chromosomes or
sister chromatids fail to split during meiosis, causes them.
Nondisjunction can be caused by misaligned or incomplete
synapsis, or a malfunction of the spindle fiber mechanism,
which aids chromosomal migration. The likelihood of
nondisjunction increases with the parents' age.
Nondisjunction in Chromosomes
Nondisjunction can happen during meiosis I or II, with
different consequences. When homologous chromosomes fail to split during meiosis I, two gametes
are produced with no copies of the chromosome and two gametes with two copies of the
chromosome. If sister chromatids fail to split during meiosis II, one gamete will be missing that
chromosome, two normal gametes will have one copy of the chromosome, and one gamete will have
two copies.

Anueploidy

Euploid refers to a person who has the correct number of chromosomes; in humans, euploidy
is equivalent to 22 pairs of autosomes and one pair of sex chromosome. Aneuploid refers to a person
who has a chromosome number defect, which can be considered as monosomy (one chromosome
missing) or trisomy (gain of an extraneous chromosome). Because they lack critical genes, monosomic
human zygotes missing any one copy of an autosome usually fail to develop to birth. This emphasizes
the significance of human "gene dosage." Most autosomal trisomies do not develop to the point of
birth; however, duplications of any of the smaller chromosomes (13, 15, 18, 21, or 22) can result in
kids who live for weeks to years. A different type of genetic imbalance affects trisomic people: an
excess of gene dosage. Individuals who have an additional chromosome can make a lot of the gene
products that that chromosome encodes. This higher dose
(150 percent) of specific genes can cause a variety of
functional issues and can even delay development. The most
common trisomy among viable births is that of chromosome
21, which corresponds to Down Syndrome.
Short stature and stunted fingers are common in
people with this genetic illness, as are facial differences such
as a broad head and huge tongue, and major developmental
delays. The risk of becoming pregnant with a fetus carrying
the trisomy 21 genotype increases with maternal age; older
women are more likely to become pregnant with fetuses
carrying the trisomy 21 genotype.
Correlation of Down’s Syndrome with Maternal Age

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Polyploidy

Polyploid refers to a person who has more than the required number of chromosomal sets
(two for diploid species). A triploid zygote would result from fertilizing an abnormal diploid egg with a
normal haploid sperm. Flatworms, crabs, amphibians, fish, and lizards are among the few polyploid
animals that have been discovered. Polyploid animals are sterile because meiosis is disrupted,
resulting in predominantly aneuploid daughter cells that are unable to generate viable zygotes.
Polyploid animals can sometimes reproduce asexually through haplodiploidy, which occurs when an
unfertilized egg divides mitotically to produce offspring. Polyploidy, on the other hand, is quite
prevalent in the plant kingdom, and polyploid plants are usually larger and more robust than their
euploid counterparts.

Duplications and Deletions

A chromosomal fragment can be duplicated or deleted in addition to the loss or gain of a complete
chromosome. Duplications and deletions frequently result in kids with physical and mental defects.
Duplicated chromosomal segments can either join to existing chromosomes or persist as free
chromosome segments in the nucleus. Cri-du-chat (french for "cry of the cat") is a syndrome
characterized by nervous system anomalies and distinguishable physical traits caused by the loss of
most of the 5p gene (the small arm of chromosome 5). Infants with this genotype emit a characteristic
high-pitched cry on which the disorder’s name is based.

Chromosomal Structure Rearrangements

Chromosome inversions and translocations are the most frequent structural rearrangements
identified by cytologists. Adaptive pairing of rearranged chromosomes with their former homologous
pair to maintain optimal gene alignment is used to identify both during meiosis. A recombination
event could result in the loss of genes from one chromosome and the gain of genes from the other if
the genes carried by two homologous chromosomes are not positioned appropriately, which will
ultimately result to aneuploid gametes.

InversionAn inversion involves the breakage of a chromosome in two places; the resulting piece of
DNA is reversed and re-inserted into the chromosome. Genetic material may or may not be lost as a
result of the chromosome breaks. An inversion that involves the chromosome's constriction point
(centromere) is called a pericentric inversion. An inversion that occurs in the long (q) arm or short (p)
arm and does not involve the centromere is called a paracentric inversion.

Translocation

A translocation occurs when a piece of one chromosome breaks off and attaches to
another chromosome. This type of rearrangement is described as balanced if no genetic material
is gained or lost in the cell. If there is a gain or loss of genetic material, the translocation is
described as unbalanced.

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LEARNING RESOURCES

Books

Rea, M.A., et. al., (2018) General Biology 1, First Ed. Sta. Mesa Heights, Quezon City. Rex Book
Store, Inc.

Hoefnagels, M. (2016). General Biology (Books 1 & 2). United States of America. McGrawHill
Education.

Ramos, A.C.M. (2017). Exploring Life through Sciences: General Biology 1. Quezon Ave.,
Quezon City. Phoenix Publishing House Inc.

Dela Pena, et. al., (2016). General Biology. Pasay City, Philippines. JFS Publishing Services.

Images

Balley, R. (2019, April 13). How chromosome mutations occur [Image].

https://www.thoughtco.com/chromosome-mutation-373448
Correlation of occurence of down’s syndrome with maternal age. (n.d.). [Graph].
https://impactofspecialneeds.weebly.com/down-syndrome-jennifer-whitman.html
Federspiel, A. (n.d.). Nondisjunction in chromosomes [Illustration].
https://www.expii.com/t/nondisjunction-in-meiosis-overview-impact-on-cells-10166
Types of chromosomal mutations. (n.d.). [Image]. http://www.vce.bioninja.com.au/aos-3-
heredity/molecular-genetics/mutations.html

ABOUT MODULE

Module Creator/Curator: Ms. Larisa Mae C. Agtay

Template and Layout Designer: Mr. Florence Somoria

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