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Chromosomal Aberrations PPT

This document discusses chromosomal aberrations, which are structural modifications to chromosomes. There are several types of aberrations: deletions result in the loss of chromosome parts; duplications involve the repetition of chromosome segments; translocations occur when parts of chromosomes break off and attach to other non-homologous chromosomes; and inversions involve the rotation of a chromosome segment so that the gene order is reversed. These aberrations can have genetic effects like pseudodominance from gene loss or position effects from changes in gene location.

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Anandha Jayaprakash
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310 views13 pages

Chromosomal Aberrations PPT

This document discusses chromosomal aberrations, which are structural modifications to chromosomes. There are several types of aberrations: deletions result in the loss of chromosome parts; duplications involve the repetition of chromosome segments; translocations occur when parts of chromosomes break off and attach to other non-homologous chromosomes; and inversions involve the rotation of a chromosome segment so that the gene order is reversed. These aberrations can have genetic effects like pseudodominance from gene loss or position effects from changes in gene location.

Uploaded by

Anandha Jayaprakash
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We take content rights seriously. If you suspect this is your content, claim it here.
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CHROMOSOMAL ABERRATIONS

Dr.H.B.Mahesha
Yuvaraja’s College
University of Mysore, Mysore

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Chromosomes have definite structure and
organization, which is normally constant
from one cell division to next. Sometimes
undergo certain structural modifications
which are known as chromosomal
aberrations.

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Chromosomal aberrations may be
Deletion – Loss of a chromosome part
Duplication – Segment of a chromosome is
repeated
Translocation – Part of a chromosome breaks
off and attaches to another, non-homologous
chromosome
Inversion – Part of a chromosome is oriented
in the reverse of its usual direction

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DEFICIENCY OR DELETION
This is due to loss of a segment in the
chromosome. Deletions are of two types, i.e.,
terminal or interstitial
If a single break occurs near the end of a
chromosome, it results in a terminal deletion.
The interstitial deletion results from the
breakdown in the chromosome followed by the
reunion on the broken ends.
Interstitial deletions are more common and
terminal deletions are rare.

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i. Genetic Significance:
Deletion … If the missing genes are of
physiological
importance, the organism
will not survive.
ii. Pseudodominance:
If dominant ‘A’ is lost in a
deletion, then recessive
‘a’ will express itself.
This expression of a
recessive trait is called
pseudodominance.

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Duplication: When a segment of the chromosome
is represented two or more times in the
chromosome of a homologous pair i.e., in
duplicate or when a segment of a chromosome
is repeated it is known as duplication.

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The duplications are not deleterious. Moreover
the duplication is useful in evolution of new
genetic material
position effect i.e, reallocation of chromosomal
material without altering its quantity may
result in an altered phenotype
eg., Position Effect in Drosophila

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eg., Position Effect in Drosophila, the wild type
eye is large and has an 810 facets. It has two
bar regions, B, one on each X chromosome. If
bar region undergoes duplication, the size of
eye is reduced.

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TRANSLOCATION
The shifting or transfer of a part of a chromosome or a set of
genes to a non homologous one is called translocation.
Translocation may be three types.
Simple translocation: The broken piece gets attached to
one end of the chromosomes.
Shift translocation: The broken segment of one
chromosome gets inserted interstitially in a chromosome.
Reciprocal translocation: A segment from one
chromosome is exchanged with a segment from another non
homologous one, so that in reality two translocation
chromosomes are simultaneously achieved. They are of two
types i.e., Homozygotic and heterozygotic translocation.

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Homozygotes do not have any cytological peculiarities and undergo
regular pairing during meiosis and cannot be detected cytologically.

In translocation heterogzygotes, breaks occur on only one of the


chromosomes of a homologous pair. In heterozygotic translocation a
considerable degree of meiotic irregularities occur.

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INVERSION:
It is an intrachromosomal aberration, in which a
section of the chromosome becomes changed by
rotation through 180 degrees. The order of the
genes in the section is thus reversed.
In a diploid organism, when out of two homologous
chromosomes one chromosome undergoes the
inversion then it is called inversion heterozygote.
Inversions are of two types: i.e., pericentric and
paracentric inversions.

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Normal Inverted segment

Pericentric inversions includes the centromere while in


paracentric inversions the centromere is outside the
inverted segment.
When crossing over occurs within the inverted segment of a
paracentric inversion, then acentric and dicentric
chromatids formed. The acentric chromoatids fail to move to
either pole due to lack of centromere. The dicentric
chromatids have two centromeres and are connected by a
bridge, breaks and contains duplications and deficiencies.

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Acknowledgements
to
1. Internet
2. Cell Biology by C B Powar

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