Types of chromosomal mutations ( SY, Claire Darren L. & ROPAL, Roravelle N.)

1. CHANGE IN STRUCTURE OF
CHROMOSOMES
SY, Claire Darren L.
ROPAL, Roravelle N.
AAPD-2B

2. 4 TYPES OF CHROMOSOMAL MUTATIONS
1. Deletion
2. Duplication
3. Inversion
4. Translocation

3. DELETION
 Is
also called gene
deletion, deficiency, or
deletion mutation.
 Is
a mutation (a genetic
aberration) in which a
part of a chromosome or
a sequence of DNA is
missing.

4. 2 KINDS OF DELETION:
1. Terminal Deletion
2. Intercalary Deletion / Interstitial
Deletion

5. TERMINAL DELETION
a deletion that occurs towards the
end of a chromosome.

6. INTERCALARY DELETION /
INTERSTITIAL DELETION
a deletion that occurs from the
interior of a chromosome.

8. DUPLICATION
 orchromosomal
duplication or gene
amplification.
 isany duplication of a
region of DNA that
contains a gene.

9. 4 KINDS OF DUPLICATION
1. Tandem
2. Reverse tandem
3. Displaced homobrachial
4. Displaced heterobrachial

10. TANDEM
The occurrence of two identical
sequences, one following the
other, in a chromosome segment.

11. REVERSE TANDEM
is a non-tandem duplication that
brings the new copy to a region
that is transcribed in the opposite
direction so that the copy actually
produces the same amino acid as
the original

12. DISPLACED HOMOBRACHIAL
The repeated segment doesn’t
foolow the arc.

13. DISPLACED HETEROBRACHIAL
The repeated segent is found on
the other side of the arc.

14. INVERSION
is a chromosome
rearrangement in
which a segment
of a chromosome
is reversed end to
end.

15. 2 KINDS OF INVERSION
1. Paracentric Inversion
2. Pericentric Inversion

16. PARACENTRIC INVERSION
do not include the
centromere and
both breaks occur
in one arm of the
chromosome.

17. PERICENTRIC INVERSION
includethe
centromere
and there is a
break point in
each arm.

19. TRANSLOCATION
 isa chromosome
abnormality
caused by
rearrangement of
parts between
nonhomologous
chromosomes

20. 2 KINDS OF TRANSLOCATION
1. Reciprocal
2. Non reciprocal

21. RECIPROCAL
 areusually an
exchange of
material
between
nonhomologous
chromosomes.

22. NON RECIPROCAL
 type of
rearrangement
involves two
acrocentric
chromosomes
that fuse near
the centromere
region with loss
of the short
arms.

23. THE END