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Translocation

Translocation is a chromosomal abnormality where a chromosome breaks and reattaches to a different chromosome, which can occur spontaneously or be induced by mutagens. There are four types of translocations classified by the number of breaks: simple, reciprocal, shift, and complex. Chronic Myeloid Leukemia (CML) is linked to a specific translocation between chromosomes 9 and 22, resulting in the Philadelphia chromosome and the oncogene BCR-ABL, which drives uncontrolled cell growth.

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16 views

Translocation

Translocation is a chromosomal abnormality where a chromosome breaks and reattaches to a different chromosome, which can occur spontaneously or be induced by mutagens. There are four types of translocations classified by the number of breaks: simple, reciprocal, shift, and complex. Chronic Myeloid Leukemia (CML) is linked to a specific translocation between chromosomes 9 and 22, resulting in the Philadelphia chromosome and the oncogene BCR-ABL, which drives uncontrolled cell growth.

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mgshah1223
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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CYTOGENETICS UNIT III SEMESTER 7th

Translocation
Translocation is a type of chromosomal abnormality in which a chromosome breaks
and a portion of it reattaches to a different chromosome. Chromosomal
translocations can be detected by analyzing karyotypes of the affected cells.
Origin of Translocation:
Translocations can originate in the following ways:
(i) Translocations may originate spontaneously.
(ii) They may be induced by mutagens, viz., ionizing radiations and many chemical
mutagens, since they induce chromosome breakage.
McClintock 1930 showed that translocation heterozygotes produced a “cross-shaped
configuration” at pachytene. In Drosophila, the first translocation where a piece of X
chromosome was attached to the Y chromosome was reported by Stern in 1926.
Types of Translocation:
Translocation may be classified on the basis of the number of breaks involved in the
translocation. According to this system Schulz-Schaeffer in 1980 divided the
translocations into four classes:

(1) Simple (one break)


(2) Reciprocal (two breaks)
(3) Shift (three breaks)
(4) Complex (more than three breaks) translocations.
1. Simple translocation:
In such translocations only single break is involved and a segment of a chromosome
becomes attached to the end of a non-homologous chromosome. In view of the
stability of telomere, intact chromosomal end cannot fuse with a chromosomal
segment. Therefore, cases of simple translocations are either reciprocal
translocation in which a very small telomeric segment of one chromosome
(apparently devoid of a detectable gene) is involved in a reciprocal translocation, or
the telomeric region of the concerned chromosome gets deleted during the
translocation.

2. Reciprocal translocation or Interchange:


CYTOGENETICS UNIT III SEMESTER 7th

In this type of translocation, segments are exchanged between two non-homologous


chromosomes, therefore, it involves one break in each of the involved chromosomes.
Most of the translocations are reciprocal translocations. Such translocations have
been extensively studied in various plant and animal species.

3. Shift type of translocation or Transposition:


It involves three breaks, and the broken segment is shifted (transposed) in the
intercalary position. According to whether same or different chromosomes involved,
shift is of two types:

(a) Intra-chromosomal shift:


Shift is confined to the same chromosome; the broken segment gets inserted either
(i) within the same arm, or (ii) in the other arm of the chromosome.

(b) Inter-chromosomal shift:


A broken piece of a chromosome is inserted into an intercalary position of a non-
homologous chromosome.

4. Complex Translocations:
In such translocations, more than three breaks are involved. Mostly, such
translocations are naturally occurring.

Meiotic Behaviour of Translocation Heterozygote

If a translocation is present in one of the two sets of chromosomes, this will be a

translocation heterozygote. In such cases, normal pairing between bivalents will not

be possible. Due to pairing between homologous segments of chromosomes, a

cross-shaped (+) figure involving four chromosomes will be observed at pachytene.

This ring of four chromosomes at metaphase I can have one of the following three

orientations :
CYTOGENETICS UNIT III SEMESTER 7th

1. Alternate. In alternate orientation, alternate chromosomes will be oriented towards

the same pole. In other words, adjacent chromosomes will orient towards opposite
poles. This will be possible by formation of a figure of eight.

2. Adjacent I. In adjacent I orientation, adjacent chromosomes having non-

homologous centromeres will orient towards the same pole. In other words,

chromosomes having homologous centromeres will orient towards opposite poles. A


ring of four chromosomes will be observed.

3. Adjacent II. In adjacent II orientation, adjacent chromosomes having homologous

centromeres will orient towards the same pole. A ring of four chromosomes will be
CYTOGENETICS UNIT III SEMESTER 7th

observed.

Alternate disjunctions will give functional gametes. Adjacent I and adjacent II

disjunctions will form gametes, which would carry duplications or deficiencies and as

a result would be non-functional or sterile. Therefore, in a plant having a

translocation in heterozygous condition, there will be considerable pollen sterility. A

ring of four chromosomes, as described above, is found under conditions when a

single interchange is found. If two interchanges are involving three non-homologous

chromosomes, a ring of six chromosomes is found, and the size of ring can increase

with additional interchanges. More than one ring can also be found if two or more

interchanges are independently found, each involving two different non-homologous


chromosomes.

Chronic Myeloid Leukemia

Over the past few years, scientists have made great progress in understanding how
certain changes in DNA can cause normal bone marrow cells to become leukemia
cells. In no cancer is this better understood than in chronic myeloid leukemia (CML).

Each human cell contains 23 pairs of chromosomes. Most cases of CML start during
cell division, when DNA is "swapped" between chromosomes 9 and 22. Part of
chromosome 9 goes to 22 and part of 22 goes to 9.

This is known as a translocation and it makes a chromosome 22 that's shorter than


normal. This new abnormal chromosome is called the Philadelphia
chromosome. The Philadelphia chromosome is found in the leukemia cells of almost
all patients with CML

The swapping of DNA between the chromosomes leads to the formation of a new
gene (an oncogene) called BCR-ABL. This gene then produces the BCR-ABL
protein, which is the type of protein called a tyrosine kinase. This protein causes
CML cells to grow and divide out of control.
CYTOGENETICS UNIT III SEMESTER 7th

In a very small number of CML patients, the leukemia cells have the BCR-
ABL oncogene but not the Philadelphia chromosome. It's thought that the BCR-
ABL gene must form in a different way in these people. In an even smaller number of
people who seem to have CML, neither the Philadelphia chromosome nor the BCR-
ABL oncogene can be found. They might have other, unknown oncogenes causing
their disease and are not considered to truly have CML.

Irfan Ahmed Noorani


Assistant Professor
Department of Animal Sciences-Zoology
Central University of Kashmir

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