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Mutation
The process that
produces an alteration
in DNA or chromosome
structure

Mutagenic agents:
1.Radiation
A. Ionizing radiation
1.X-rays (wavelength 10
2.y rays (wavelenght
3.cosmic rays (wavelenght
B. Nonionizing radiation (e.g. ultraviolet,
wavelength about

Classification of mutation
2.Chemicals
A. Reactants with purines and pyrimidines
1.Nitrous acid
2.Formaldehyde
B. Acridine dyes
C. Akylating agents
D. Carcinogens
E. Acids

1.

Spontaneous mutation
Not induced by mutagenic agent
No specific agent other than natural forces
associated with their occurrence and they
are generally to be changed in the
nucleotide sequence of gene that occurs at
random sites.

Causes

Aberrant recombination abnormal crossing over


may cause deletion, duplication and inversion
Aberrant Segregation may cause aneuploidy and
polyploidy
Error in DNA replication a mistake in DNA
replication by DNA polymerase cause point mutation
Toxic metabolic products

2. Induced Mutation
A result of an influence of any artificial
factors
Causes:
Chemical Agents
Physical Agents

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Other category of mutation:


3. Gametic mutation
Part of the germline and are transmitted to
the offsprings

1.
2.
3.
4.

Morphological trait
Nutritional or biochemical variations
Behavioral mutation
Regulatory mutation

Chromosomal Aberration: Structural


change
Types of breaks:
1.
Single break (chromatid)
- the broken end maybe rejoined (restitution)
- if not rejoined the result is acentric fragment and
centric
Result:
a. Pseudodominance with only one copy of the locus
present; maybe lethal depending on the length of
the deleted segment

Types of Structural Change:


1.
2.
3.

4.

Deletion or Deficiency the loss of part of a


chromosome, usually involving one or more genes
Inversion broken segment reattached to original
chromosome in reverse order
Translocation involve the shift of a part of one
chromosome to another nonhomologous
chromosome
Duplication broken segment become attached to
homolog that has experienced break; homolog
then bears one of genes duplicate

2. Single breaks (chromosome) the centric


fragments of a single chromosome may join
forming two centromere and leaving two
accentric fragments to join nor maybe as two
fragments
3. Two break in chromosome

Chromosomal Aberration: Change in


Number
I.

Euploidy characterized by possession of


the entire sets of chromosome; involves
changes in theset of chromosome
1. Monoploidy carry one genome
2. diploidy carry one genome
3. polyploidy 3 or more complete sets of
chromosome

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a.

b.

Autopolyploidy a polyploidy all of whose


sets of chromosome are those of the same
species
Allopolyploidy a polyploidy having whole
chromosome sets from different species

II. Aneuploidy - involving changes in


chromosome number by addition and
deletion.
a. Monosomic loss of a single chromosome.
b. Trimosomic - the gain of one chromosome
c.
Tetrasomic - the gain of two chromosome.
d. Nullisomic cell missing both copies.

HUMAN DISORDER

1.
2.
3.
4.
5.

TYPES
Trisomic
Triploid tetrasome
Tetrasomic
Monosomic
Nullisomic

1.
2.
3.
4.
5.

FORMULA
2n+1
3n+1
2n+2
2n-1
2n-2

1. Down syndrom- trisomy 21


- 47XX or XY, +21
-the overt phenotype pf this individual is so
similar that they bear a striking
resemblance to one another.
-physical, psychomotor and mental
development is retarded.
-IQ is seldom above 70

2. Edward syndrome- trisomy 18


-47XX or XY, +18
-ratio 1:10,000 live births
-An elfin appearance with small node and
mouth, a receding lower jaw, abnormal ears,
limited motion of distal joints, mental
retardation.

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3. Patau syndrome- trisomy 13


-47XX or XY, +13
-ratio 1:20,000
-cleft palate, cleft lip, congenital heart
defect, polydactyl and serve mental
retardation

4. Turner syndrome
-45X
-ratio 1:3,000
-charaterized by aberrant sexual development.
-has a female genitalia and internal duct but the
ovaries are rudimentary.
-with short stature (under5 ft), short, webbed neck
and broad shield chest.

5. Klinefelter
-47XXY
-characterized by aberrant sexual
development syndrome
-have genitalia and internal duct that are
usually male but their testes are
undeveloped and fail to produce sperm.

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6. Partial monosomy: cri-du-chat syndrome


-46XX or XY, 5p
-ratio 1:50,000
-anatomic malfunction, including
gastrointestinal and cardiac malfunction.
-abnormal development of the glottis and
larynx as a result, the infant has a cry similar
to that of the meowing of the cat.

SEX DETERMINATION

Types of sexually reproducing animals


and plants.
1.

2.

Monoecious- each individual produce two


gametes, the sperm and egg cell.
Dioecious- a given individual produce only
sperm and egg cell.

Sex chromosome
1.

Diploid organism
a) XX-XO system
-half the species of certain insect contained an
external nuclear structure, the x, body (e.x
grasshopper)
female- XX
male-XO
b) XX-XY system
Ex. Drosophila, mammals, some plants.
female-XX
male-XY

c) ZZ-ZW system
Ex. Birds, butterflies, some fishes.
female-ZW(heterogametic)
male-ZZ(homogametic)

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2. Monoploid organism.
Ex. Livewroth (bryophyte)
-sexually reproducing phase or generation.
Sexual gametophyte;
asexual sporophyt;
Female-X male-Y
XY

Gynandroph- one kind of mesaic (an organism


part of which are composed of cell
genetically different from the remaining part)
Ex. Flies
male sterile-AA XO

Hermap. Hoditism- possess both ovaries and testicular


tissue.

Characteristic
1.
External genitalia are ambiguous but often more or
less masculinized; clitoris is enlarge
2.
Secondary sex characteristic vary more or less
male or less female
3.
Sterile because of rudimentary ovaries

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