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Mutations - Are Changes in The Organism That Are Heritable and Essentially Permanent

Mutations are heritable changes in organisms that can occur through changes in genome structure and chromosome number (euploidy and aneuploidy) or changes in chromosome structure (structural aberrations). Euploidy includes polyploidy where organisms have more than two complete sets of chromosomes, and is common in plants. Structural aberrations include deficiencies/deletions, duplications, inversions, and translocations caused by chromosome breaks, which can have genetic effects like lethality, pseudo-dominance, or unique phenotypes. Examples of structural aberrations in humans include the Philadelphia chromosome causing chronic myeloid leukemia and deletions causing Cri du chat syndrome.

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50 views14 pages

Mutations - Are Changes in The Organism That Are Heritable and Essentially Permanent

Mutations are heritable changes in organisms that can occur through changes in genome structure and chromosome number (euploidy and aneuploidy) or changes in chromosome structure (structural aberrations). Euploidy includes polyploidy where organisms have more than two complete sets of chromosomes, and is common in plants. Structural aberrations include deficiencies/deletions, duplications, inversions, and translocations caused by chromosome breaks, which can have genetic effects like lethality, pseudo-dominance, or unique phenotypes. Examples of structural aberrations in humans include the Philadelphia chromosome causing chronic myeloid leukemia and deletions causing Cri du chat syndrome.

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Sheenly David
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MUTATIONS

Mutations
- are changes in the
organism that are
heritable and essentially
permanent.
• A. Variation in Genome Structure and
Numerical Changes of the Chromosomes.

1. Euploidy- refers to changes involving the


whole genome or the entire set of
chromosomes.

Type Formula Chromosome Complement


Monoploid n (1234)
Diploid 2n (1234) (1234)
Autotriploid 3n (1234) (1234) (1234)
Autotetraploid 4n (1234) (1234) (1234) (1234)
Allotetraploid 4n (1234) (1234) (5678) (5678)
Polyploid- are organism with the cells
containing three or more sets of
chromosomes or genomes

Autopolyploidy- when polyploidy


is due to multiplication of one basic
genome
Allopolyploids- genomes making
up mutiple sets are not identical.
Examples of Euploid
1.1 Autopolyploidy
1.1.1 Triploids (3x) bananas hyacinths,
winesap, applesv, European pears
1.1.2 Tetraploids (4x) potato alfalfa, coffee
peanuts

1.2 Allopolyploidy
Allotetraploid
a. Nicotiana Tabacum (tobacco) 2n= 48
b. Raphanobrassica 2n= 18
Allohexaploid
a. Tricticum aestivum (bread wheat)
2n=42

POLYPLOIDY- is a common occurence in


plants
47% angiosperms species are polyploid
70% grasses are polyploids
Physical appearance of Polyploidy

Autopolyploids
*increase invidual size
*slower growth rate and later maturity than
diploids.
*thicker leaves, larger and fewer flower,
larger fruits.
*reduce fertility
*existence
• Allopolyploids
are fertile, process physical appearance
responsible for formation of new species

Segregation and Linkages in Polyploids


the presence of extra chromosomesin
polyploids affects the genotypic ratios of
progeny
ANEUPLOIDY
- occurs when one or more chromosomes of
a normal set (genome whose number are
not multiples the genome.

incomplete genomes
Changes in Chromosome Structure
of Chromosomal Aberrations
• Changes in genetic information may also
be caused by changes in chromosome
structure.

• Structural aberrations are caused by


breaks of chromosome.
A. Deficiency or Deletions
The genetic effects of defeciencies include
the following:
-Deficiences for a considerable number of loci
result in lethality .
-Non lethal defeciences may result in pseudo-
dominance.
- Crossing over is completely absent in defecient
region.
-deficiences may produce unique phenotypic
effects of their own.
Chromosomal Deficiencies in
man:
• Philadelphia 22 chromosome
is a deficiency for a large portion of
long arm of chromosome 22.
chronic myeloid leukemia.
• Cri du chat syndrome
is the deletion in the short arm of chromosome
5.
Cat like cry unique facial features, mental
detartations, physical defects
• B. Duplications or Repeats
when a section of chromosome
is in excess
of the normal amount.
C. Inversion
is the rotation of a chromosome segment to
a full 180C
Paracentric inversion- when the centromere
is not included in the inverted segment

Pericentric inversion- when the inverted


segment includes centromere.
D.Interchange or reciprocal translocation
occurs when single breaks in two
nohmologous chromosome sections
between them.

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