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M.T.Yeung P.1
Mutation
(http://www.tokyo-med.ac.jp/genet/index-e.htm)
- a sudden and relatively permanent, inheritable change in the amount or structure of genetic material (e.g.
DNA in the chromosome) of an organism
(resulting in a change in the phenotype of an organism)
-
sudden change in somatic cells (called somatic mutation) will not be inherited to individuals of the
next generation, but can be transmitted to its daughter cells inside the body via mitosis.
however, if mutation is occurred during gamete formation (i.e. germinal mutation) it might be
inherited to offspring and form new varieties.
provide raw material (variation) for natural selection in evolution.
val-his-leu-thr-pro-glu-glu---etc.
(GAG in mRNA)
point mutation (substitution)
Sickle-cell Hb chains:
val-his-leu-thr-pro-val-glu---etc.
(GUG in mRNA)
-
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and they often have some advantage e.g. forming larger fruits etc.
-- associated with advantageous characteristics:
greater size, hardiness, resistance to disease.
Phenotypes of polyploids:
Increased DNA content tends to increase size of cell; often translate more protein than diploids. Thus often larger
and more vigorous than diploids; flowers often more deeply coloured. Development of complex organs often
disrupted (and polyploidy is lethal in humans for this reason). Allopolyploids combine features of both parent
species and so are often more phenotypically novel than autopolyploids. Thus allopolyploids are more likely
than autopolyploids to be strongly favoured or disfavoured by selection.
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iii
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Chromosome
withtwo
chromatids
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Reference ( ) :
:
(1) (nondisjunction:
(2) (chromosomeloss):
(3) (chromosomebridge)
(4(endoreduplication):
(http://antioxy.fmmu.edu.cn/chapter6.htm)
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(carrier)10%
2.5%
5060
30364248
900300601216
(aminocentesis)(John L. Down, 1828-1896)19
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Spontaneous Mutation
- without a known cause, It may be due to the effect of cosmic ray from the outer space but also
probably caused by physical and chemical agents.
- usually infrequent and very slow in nature
e.g. in man: ~ 1 mutation / 100,000 gametes
- over a period of time, these mutations accumulate in population.
2. Induced Mutation
- mutation rate can be speeded up by applying mutagenic agents (mutagens)
- caused by the mutagenic agents (mutagens) artificially.
a. Physical mutagens
- UV radiation, heat and ionizing radiations (e.g. -, -, -, x-ray... etc.)
b. Chemical mutagens
- chemical substances which increase the mutability of genes
e.g. nitrous acid, mustard gas, formaldehyde, colchicines, base analogs
- base analogs are chemically similar to the nucleic acid bases ( incorporated into DNA
molecule by mistake)
Significance of Mutation
- most mutations confers disadvantages. few are useful
- exerts very slight effect on the characteristics of an organism
- mutant gene is usually recessive.
- It is a kind of discontinuous variation and hence the basis for evolution.
-
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Cell Division
Cell Theory was extended by Rudolph Virchow in 1855:
" every cell is from a cell"
i.e. all new cells are derived from other cell
so all cells in all organisms have been formed from successive divisions of some original ancestral cells.
A. Chromosomes in cell division
-
Chromatin
-- fibers containing proteins and DNA
-- extremely long and thin
-- dispersed throughout the nucleus and individual threads cannot be seen in non-dividing eukaryotic cells
Chromosome
-- made up of chromatin
-- involved in controlling of all materials in the cell
-- during cell division:
- highly condense and become shorten, so individual chromosomes can be seen under microscope
- control of materials synthesis in the cell ceases
Homologous Chromosomes
They are the similar chromosomes in diploid cells:
-- contain the same number and linear sequence of genes
-- with similar morphology under microscope (same length and some centromere position, except the sex
chromosomes)
-- one derived from the male parent and the other from the female parent
-- pair up to from a bivalent during meiosis
Chromatid
-- each of the two identical double helix chains of DNA from replication 'surrounded' by protein 'coat' at
onset of cell division lying side by side
-- attached to each other by a non-staining region 'centromere' where for attachment of microtubules of
spindle fibres.
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the length of time for a complete cell cycle is termed the generation time
can be used to describe the activities of actively growing and dividing cells (some cells are not capable
of dividing once they reach a certain size, e.g. red blood cells, nerve, skeletal muscle)
3 main stages:
i. Interphase / Resting phase
- Chromosomes are not visible but only chromatins can be seen after staining.
First growth phase (G1) : cell organelles and biochemicals and protein synthesis
(cell growing and developing)
Synthesis phase (S)
: DNA replication
Second growth phase (G2) : condensation of chromatin, centriole duplication (in animals),
increase energy storage
Mitosis (Division of nucleus)
1. Prophase:
- Chromosomes shorten and thicken gradually and become visible
- centrioles (not in plants) move to two poles
- aster (not in plants) appear
- spindle fibres (they are microtubules) form spindle
- nucleolus disappears
- nuclear envelope disintegrates
ii.
2. Metaphase:
- chromosomes line up at equator
- spindle fibres attach to centromere
- chromatids are slightly apart
3. Anaphase:
- centromere split and chromatids are totally separated by shortening of spindle fibres (partial
depolymerization of microtubules into tubulin molecules)
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Prophase
Pairing of homologous chromosomes
(synapsis forming bivalent)
Stage
Metaphase
Anaphase
Telophase
Meiosis
II
Same
Same
Both
members
of each
pair
Half
Same
Half
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