Chromosomal Mutation

By Dr.Ashgan Ahmed
 Mutations

• Mutations are defined as “a sudden & abrupt changes in the genetic

materials of organisms

• They can occur at :

• A. The molecular level (genes) and change a single gene.

• B. The chromosome level and affect many genes.

 Chromosomal Mutations

• Chromosomal mutations are processes that result in

rearranged chromosome parts, abnormal numbers of
individual chromosomes, or abnormal numbers of
chromosome sets.
Types of Chromosomal Mutation

• A. Structural Chromosomal Mutation

• B. Numerical Chromosomal Mutation

 A. Structural Chromosomal Mutation

• Chromosomal alterations are mutations that change chromosome structure.

• They occur when a section of a chromosome breaks off and rejoins incorrectly or does

not rejoin at all.

• may result in-:
• Birth defects
• Mental retardation
• Increased risk for infertility
• Pregnancy loss. Due to-: chromosomal breakage or unequal crossing over
A. Structural Chromosomal Mutation

• I. Single chromosome Disorders

Deletion

Duplication

Inversion

Ring chromosome

• II. Two chromosome chromosomal disorder

Translocation
 Deletion

• Deletion: a segment of a chromosome separates and is lost.

• Types :1. Terminal (Near the end of the chromosome)

• 2. Interstitial (Not at the end of the chromosome)

• Deletions require two breaks in the chromosome followed by loss of the

chromosomal segment and rejoining of the ends.

• The deleted fragment is acentric (without a centromere) .

• Effect of multigenic deletions

• The affected chromosome loses certain genes and becomes shorter than
normal.

• If deletion affects the same gene loci on both homologous chromosomes

the effect is usually lethal

• Cytological detection: Change in banding patterns

 Duplication

• A segment of the chromosome is duplicated, resulting in extra

genetic material

• Effect of duplications

• 1. Heterozygous for duplication = can be lethal because of

imbalance generated by extra copies of the duplicated region.

• 2. Homozygous for duplications is unknown in medical

genetics.

• Can be detect by Karyotype & Genomic microarrays

 Inversion

• flipping of chromosomal segment relative to the rest of the

chromosome)
• Inversions require two breaks in the chromosome followed by a
180° rotation of the chromosomal segment and rejoining of the
ends
• Types
• 1. Paracentric – centromere outside the inversion
• 2. Pericentric – centromere inside the inversion B.
• examples of inversion chromosomal mutations are the inversion of
chromosome 12 creating the tallest teenager in the world
• Too small can not be detected by karyotype
Ring Chromosomes

• Ring chromosomes are formed by a break

involving both telomeric ends of a

chromosome, deletion of the acentric

fragments and end-to end fusion of the

remaining centric portion of the chromosome

• The consequences depend primarily on the

amount of genetic material lost because of the

break.
 B. Two Chromosomal Disorders

• Translocation Movement of a chromosomal segment from one location to another)

• Types

• 1. Reciprocal (exchange of segments). Reciprocal translocations require two breaks in two

different chromosomes followed by rejoining of the ends

• 2. Nonreciprocal (1 segment moves to a new location without receiving any in return)

• Cytological detection :Change in the size of the chromosome

• Example: Philadelphia chromosome leads to CML

 2.Numericl Abnormalities (ploidy)

• I. Aneuploidy one or more chromosome is added or deleted from basic

chromosomal number in a diploid cell.. Occurs due to non-disjunction.

• Hypoploidy: reduced one or more chromosome

• Hyperploidy: increased one or more chromosome

• 2. Euploidy: excess or deficiency complete one or more set of chromosome.

 I. Aneuploidy
• Disjunction: is the normal separation or moving apart
of chromosomes toward opposite poles of the cell
during cell division.
• Disjunction normally occurs during the anaphase of
mitosis and meiosis
• Nondisjunction means failure of separation of
homologous chromosome in meiosis I or of sister
chromatids in meiosis II.
One of the daughter cell will have more or less number
of chromosome
• In both the cases abnormal gametes will be formed and
after fertilization, there will be trisomy or monosomy of
chromosome
 I. Aneuploidy

• Monosomy: loss of a single chromosome (2n-1) :e.g., Turner syndrome

• Trisomy : gain of a single chromosome((2n+1) e.g., Down Syndrome

• Tetrasomy: gain of two homologous chromosomes (2n+2) e.g., Tetrasomy 9p

 Monosomy
• loss of a single chromosome

• It’s chromosome number is represented by (2n-1) :e.g., Turner syndrome

• It occurs when an abnormal egg (O) fuse with normal sperm (X).

• The individuals have 45 chromosome (44 autosome and one X)

• The affected individual is sterile female with under-developed breasts, reduced

ovaries, short stature, and often have a web of skin extending between the neck and
shoulders lacks menstrual cycle and few male like characters
 Trisomy
• An organism containing one extra chromosome in addition to diploid
set.

• (2n+1) e.g., Down Syndrome, Klinefelter’s syndrome

• Down Syndrome, trisomy 21 (extra chromosome number 21).

• The individual with Down syndrome have 47 chromosome.

• 47,XX,+21, 47,XY,+21

• The disorder is characterized by mental retardation, short body stature,

swollen tongue, eyelid folds resembling Mongolian race.
 Klinefelter’s Syndrome
• common genetic condition found in males only.
• Occurs when a boy is born with one or more extra X
chromosomes.
• 2n+1 (44+XXY) genotype
• It occurs when an abnormal egg (XX) fuse with
normal sperm (Y)
• The affected individual is sterile male and is
characterized by unusually long body, obese and
female like characteristics
Klinefelter’s Syndrome

2n = 47 29
Tetrasomy:
• An organism having one extra
pair of chromosome in
addition to its diploid set.
• It is represented as 2n+2
• E.g., tetrasomy 9p. tetrasomy
18p & Tetrasomy 12p
 2. Euploidy
• Excess or deficiency complete one set or more of chromosome
in diploid organism.
A. Monoploidy or Haploidy

B. Polyploidy
• A. Monoploidy or Haploidy
• Monoploid or haploid organism contains single genome (n) in their cell.
• They contains one member of each kind of chromosome.
• Haploid plants are usually weaker and smaller than diploid
• Leaves of haploid plants are generally small and Plants have low viability.

• Note: Diploidy:
• Normally all higher plants and animals occurs in diploid form.
• They contains two copy of each chromosome
Polyploidy

• Polyploidy is a condition of addition of one or more complete set of chromosome in

diploid cell.
• Polyploidy results due to failure of separation of chromosomal sets during mitosis or
meiosis such that more than two chromosomal sets are present in a cell.
• Polyploidy is more common and sometimes resulting in evolution of new plant
species with better yield
• A number of agriculturally important crops, such as wheat, oats, cotton, potatoes,
and sugar cane are polyploids.
• The organism with three sets of chromosome called triploid, 4 sets; tetrapolid, 5 sets;
pentaploid and so on. These all are polyploids and the condition is known as
polyploidy.
 Outcome of chromosomal Mutation

1. Interfere with one or more key cellular activities and lead to cell death,

2. change a key cell function (e.g., increase mitotic activity) so as to lead

to dysfunction without cell death (hereditary disease)