Scribd
Upload
374 views

Chromosomal Aberrations: Deficiency or Deletion

Chromosomal aberrations are structural modifications to chromosomes that result in changes to the organism. There are several types of chromosomal aberrations: 1) Deletions occur when a segment of the chromosome is lost, which can allow recessive genes to be expressed. 2) Duplications occur when a segment is repeated, forming duplication loops. Duplications do not usually harm organisms and can be useful in evolution. 3) Translocations involve the shifting of a chromosome segment to a non-homologous chromosome, rearranging genes but not changing quantity. This can lead to unbalanced gametes. 4) Inversions reverse the order of genes within a chromosome segment,

Uploaded by

vandv prints
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
374 views

Chromosomal Aberrations: Deficiency or Deletion

Chromosomal aberrations are structural modifications to chromosomes that result in changes to the organism. There are several types of chromosomal aberrations: 1) Deletions occur when a segment of the chromosome is lost, which can allow recessive genes to be expressed. 2) Duplications occur when a segment is repeated, forming duplication loops. Duplications do not usually harm organisms and can be useful in evolution. 3) Translocations involve the shifting of a chromosome segment to a non-homologous chromosome, rearranging genes but not changing quantity. This can lead to unbalanced gametes. 4) Inversions reverse the order of genes within a chromosome segment,

Uploaded by

vandv prints
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
You are on page 1/ 4

CHROMOSOMAL ABERRATIONS

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

Chromosomes have s definite structure and organization, which is normally


constant from one cell division to next. They, however, sometimes undergo certain
structural modifications which are known as chromosomal aberrations. Since these
modifications also result in a change in the organism they are also called
chromosomal mutations or gross mutations.

DEFICIENCY OR DELETION

This is due to the loss of a segment in the chromosome. Deletions are of two
types a. terminal and b. interstitial.

If a single break occurs near the end of a chromosome it results in a terminal


deletion. The interstitial or intercalary deletion results from the breakdown in the
chromosome flowed by the reunion on the broken ends. Interstitial deletions are
more common and terminal deletions are rare.

Genetic Significance: If the missing genes are of physiological importance,


the organism will not survive. Another effect of a deficiency is that it allows recessive
genes to express themselves phenotypically. If dominant ‘A’ is lost in a deletion,
then recessive ‘a’ will express itself. This expression of a recessive trait is called
pseudodominance.

DUPLICATION

Duplication occurs 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. In this case part of
a chromosome gets detaches and attaches to the homologous chromosome. During

1
meiotic pairing the duplication loop is formed by the duplicated segment, not by
normal segment as in case of the deficiency loop. Duplications are of various types.
In tandem duplication the section ‘de’ is repeated immediately after its normal
position ‘abcdedefghi’. In a displaced duplication a segment of the chromosome is
repeated some distance away from its normal location. The repetition may take
place on the same arm of the chromosome (homobracheal displacement) or on the
other arm (herterobracheal displacement).

The duplications of chromosomes are not deleterious to the organisms like the
deficiency and they usually protect the organism from the effect of a deleterious
recessive gene or from otherwise lethal deletions. Moreover the duplication is useful
in evolution of new genetic material and in altering the phenotype due to
reallocation of the chromosomal material (position effect i.e, reallocation of
chromosomal material without altering its quantity may result in an altered
phenotype this is called position effect) eg., Drosophila. The wild type eye of
drosophila is large and has an average of 779 facets. It has two bar regions, B, one
on each X chromosome. If bar region undergoes duplication, the size of eye is
reduced. In the presence of a single heterozygous bar (BB, B) the eye is smaller and
average 358 facets. The mutants bar (BB, BB) and double bar (BBB, B) have four bar
regions each. The eye of bar average 68 facets and those of heterozygous double
bar 45 facets. Homozygous double bar has 25 facets.

TRANSLOCATION

The shifting or transfer of a part of a chromosome or a set of genes to a non


homologous one is called translocation. This is not a loss or addition of genes during
translocation, only rearrangement (i.e., change in the sequence and position of a
gene). Translocation may be three types.
2
i. Simple translocation: they involve in a single break in a chromosome. The
broken piece gets attached to one end of the non homologous chromosomes.
ii. Shift translocation: in this type the broken segment of one chromosome gets
inserted interstitially in a non homologous chromosome.
iii. Reciprocal translocation: in this case 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.

Homozygotes donot have any cytological peculiarities and undergo regular


pairing during meiosis and cannot be detected cytologically. Generally they are
marked by altered linkage group by the fact that the gene with new neighbours may
produce position effect. 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.

During synopsis, the chromosomes are arranged in the form of a cross. At the
complete terminalization the cross opens out to form a ring or figure of eight leads to
unbalanced gametes.

In translocation homozygotes breaks occur in both chromosomes of two


different chromosome pair and there is mutual interchange of the segments.

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. This usually leads to formation of an inversion loop in one of the

3
chromosome. Inversions are of two types: i.e., pericentric and paracentric
inversions.

In pericentric inversions, the inverted segment 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 during meiosis. The acentric chromoatids
fail to move to either pole due to lack of centromere. The dicentric chromatids have
two centromere and are connected by a bridge and bridge breaks somewhere
along its length and resulting fragments contains duplications and deficiencies.

If crossing over occurs within the loop of a pericentric inversion, then the
resulting chromatids have duplication and deficiency.

You might also like