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11.4 GeneticMutation

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GENETI

LESSON 11.4

C
M UTATION
MAIN IDEA:

Errors in genetic information are called mutations.


GENETIC MUTATIONS
Many diseases or abnormalities caused by defects in the genetic
material can be traced. Changes in the structure of genes that affects
its inheritable nucleotide sequence are called mutations.

Different types of mutations can result in changes in the quantity or


quality of genes or chromosomes, and may or may not affect the
phenotype of an organism.
GENETIC MUTATIONS

They may also involve a change in the structure of chromosomes or in


DNA sequence. Mutations can happen spontaneously or can be caused
by mutagens or mutagenic agents.
GENETIC MUTATIONS

Changes in the number of structure of chromosomes are called


chromosomal aberrations. Chromosomal abberations may involve one
ore more genes.
BASED ON
CHROMOSOME
NUMBER
CHROMOSOME NUMBER

A change in chromosome number may be a euploidy (whole genome)


or an aneuploidy (a change in the number of chromosomes).
CHROMOSOME NUMBER

Examples of aneuploids are the following:

Klinefelter syndrome (2n = 47, 44 autosomes + XXY)


Turner syndrome (2n = 45, 44 autosomes + X)
Metafemale (2n - 47, 44 autosomes + XXX)
Down syndrome or trisomy 21 (2n = 47)
CHROMOSOME NUMBER

Aneuploidy is often caused by a phenomenon called nondisjunction or


the inability of the homologous sex chromosomes to segregate during
meiosis.
BASED ON
CHROMOSOME
STRUCTURE
CHROMOSOME
STRUCTURE
Changes involving chromosome structure may be in the form of:
-deletion (loss of a segment)
-duplication (a chromosome pair in excess of the normal amount)
-inversion (rotation of a chromosome segment)
-translocation (transfer of a chromosome part to a nonhomologous
chromosome)
BASED ON
NUCLEOTIDE
SEQUENCE
NUCLEOTIDE SEQUENCE

Changes involving DNA sequence could involve deletion or insertion


of one nucleotide pair (microlesion or point mutation) or deletion or
insertion of a number of nucleotides in the DNA sequence (frameshift
mutation).

A change of a purine to a pyrimidine, or vice versa, is called


transverse mutation.
NUCLEOTIDE SEQUENCE

Mutations vary on the type of cell affected.

Somatic mutation, which involves body cells, affect only the part of
the genetic sequence of one defective cell and the succeeding daughter
cells. This type of mutation is not passed on to the next generation.
NUCLEOTIDE SEQUENCE

Sex cells mutation, which involves the sex cells or germ cells, can be
passed on to the organism's offspring and will be present in every cell
of the offspring's body.
NOTE:

Not all mutations are bad for organisms. In fact, some mutations could
even lead to the evolution of organisms. It may also cause variations
in the organism which lead to diversity.
GENETIC MUTATIONS

THANK YOU FOR


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