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Review
1.DNA
2.RNA
3.Guanine
4.Adenine (DNA)
5.Adenine (RNA)
Central Dogma
DNA RNA ProteinsTranscription Translation
Superheroes
MUTATIONS
Changes in the Genetic Code
MUTATION
A natural process that changes the
DNA structure of an organism,
resulting to new characteristics
Changes in Genetic Code
Causes of mutation
1. Spontaneous mutation
 something went wrong in the process
of replicating or forming the gametes
2. Induced mutations
 environment: radiation , chemicals,
high temperatures, microbial infections
Types of Mutation
1. Gene mutation
 only a single gene is affected which
happens during the replication of DNA.
2. Chromosomal mutations
 any change in the number or structure
of a chromosome.
Mutation
Mutation
Gene Mutation
Point mutation
Frame shift
mutation
Chromosomal
Mutation
Deletion
Duplication
Insertion
Inversion
Translocation
Non-
disjunction
1. Gene Mutation
1.1. Point Mutation
An incorrect nucleotide is substituted
for the correct nucleotide
Heredity 180329095039
Disorder
1. Gene Mutation
1.2. Frame shift Mutation
Involves the insertion or deletion of a
nucleotide in the DNA sequence that
changes codons. The shift may
produce different amino acids and
proteins.
Heredity 180329095039
Disorder
Cystic
fibrosis
Mutation
Mutation
Gene Mutation
Point mutation
Frame shift
mutation
Chromosomal
Mutation
Deletion
Duplication
Insertion
Inversion
Translocation
Non-
disjunction
Normal male karyotype
Normal female karyotype
2. Chromosomal Mutation
2.1. Deletion
One or more gene is
removed.
Heredity 180329095039
Disorder
Cri du chat
Heredity 180329095039
Disorder
Jacobsen
Syndrome
Heredity 180329095039
2. Chromosomal Mutation
2.2. Duplication
A segment of genes is copied
twice and added to the
chromosome in duplication
Heredity 180329095039
Disorder
Charcot-Marie-Tooth disease
Heredity 180329095039
2. Chromosomal Mutation
2.3. Inversion
When a segment of genes flip
end-to-end on the chromosome,
inversion occurs.
Heredity 180329095039
Disorder
Four Ring Syndrome
2. Chromosomal Mutation
2.4. Insertion
A portion of chromosome
breaks off, and attaches to
another chromosome
2. Chromosomal Mutation
2.5. Translocation
Genes are swapped with
another chromosome.
Heredity 180329095039
Heredity 180329095039
2. Chromosomal Mutation
2.5. Non-disjunction
During anaphase II in
meiosis, homologous
chromosomes fail to
separate.
Heredity 180329095039
Disorder
Downs Syndrome
Heredity 180329095039
Disorder
Edwards Syndrome
Heredity 180329095039
Other Genetic Disorder
Klinefelters Syndrome
r
Heredity 180329095039
Heredity 180329095039
Other Genetic Disorder
Turners Syndrome
Heredity 180329095039
Heredity 180329095039
Diagnosing Genetic Disorders
There are several ways to determine whether a
child will have a genetic disorder
Two main ways to diagnose:
Analysis of fetal cells
Amniocentesis
Chorionic villus biopsy
Imaging techniques
Ultrasonography (computerized image)
Fetoscopy (direct observation)
Benefits of Mutation
Mutation
Mutation
Gene Mutation
Point mutation
Frame shift
mutation
Chromosomal
Mutation
Deletion
Duplication
Insertion
Inversion
Translocation
Non-
disjunction
Determine the Chromosomal mutations in
the following genetic disorder:
1. Cri du chat 
2. Jacobsen syndrome 
3. Downs syndrome 
4. Edwards syndrome 
5. Turners syndrome

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Heredity 180329095039