CONCEITOS BASÍCOS DE GENÉTICA

Gene:uma região do DNA (ativa) que produz um transcrito funcional;

locus gênico: ponto específico em um cromossomo onde um gene esta situado;

Alelo: umas das formas diferentes de um gene que podem existir em um único locus;

Par gênico: duas cópia de um tipo particular de gene presente em uma célula diplóide
(uma em cada conjunto cromossômico)
DNA replication is the basis of the

perpetuation of life through time

The structure of 2 ,3 -dideoxynucleotides, which are
employed in the Sanger DNA-sequencing method.
 Chain-elongation reaction
catalyzed by DNA polymerase
Generalize structure of a eukaryotic gene
Any piece of DNA has six possible reading frames, three
in each direction
Semiconservativa replication in fosses.
 Restriction mapping by
comparing electrophoretic
separations of single and
multiple digests
The polymerase chain reaction
The model of DNA replication proposed by Watson and
Crick is based on the hydrogen-bonded specificity of the
base pairs. Complementary strands are shown in different
colors. This drawing is a simplified version of the current
picture of replication but represents the basic concept
suggested by the Watson-Crick structure. The fact that
new strands can grow only in the 5 -to-3 direction adds
complexities to the detailed mechanism of replication.
Three alternative patterns for DNA
replication. The Watson-Crick model
would produce the first
(semiconservative) pattern. Light blue
lines represent the newly synthesized
strands
Centrifugation of DNA in a cesium chloride (CsCl) gradient. Cultures grown for many
generations in 15N and 14N media provide control positions for heavy and light DNA
bands, respectively. When the cells grown in 15N are transferred to a 14N medium, the
first generation produces an intermediate DNA band and the second generation
produces two bands: one intermediate and one light
Three alternative patterns for DNA
replication. The Watson-Crick model
would produce the first
(semiconservative) pattern. Light blue
lines represent the newly synthesized
strands
Centrifugation of DNA in a cesium chloride (CsCl) gradient. Cultures grown for many
generations in 15N and 14N media provide control positions for heavy and light DNA
bands, respectively. When the cells grown in 15N are transferred to a 14N medium, the
first generation produces an intermediate DNA band and the second generation
produces two bands: one intermediate and one light
Diagrammatic representation of the
autoradiography of chromosomes from cells
grown for one cell division in the presence of
the radioactive hydrogen isotope 3H (tritium)
and then grown in a nonradioactive medium
for a second mitotic division. Each dot
represents the track of a particle of
radioactivity.
Diagrammatic representation of the
autoradiography of chromosomes from cells
grown for one cell division in the presence of
the radioactive hydrogen isotope 3H (tritium)
and then grown in a nonradioactive medium
for a second mitotic division. Each dot
represents the track of a particle of
radioactivity.
Light blue lines represent radioactive strands. In the second replication
(which takes place in nontritiated solution), both the 3H strand and the
nontritiated strand incorporate nonradioactive nucleotides, yielding one
hybrid and one nontritiated chromatid.
 Left: Autoradiograph of a bacterial chromosome after one replication in
tritiated thymidine. According to the semiconservative model of replication, one
of the two strands should be radioactive. Right: Interpretation of the
autoradiograph. The light blue line represents the tritiated strand
Left: Autoradiograph of a bacterial chromosome in the second round of replication in tritiated
thymidine. In this theta (θ) structure, the newly replicated double helix that crosses the circle
could consist of two radioactive strands (if the parental strand was the radioactive one). Right:
The double thickness of the radioactive tracing on the autoradiogram appears to confirm the
interpretation shown here. The light blue helices represent the "hot" strands.
Rolling-circle replication. Newly synthesized DNA is light blue
 Left: Autoradiograph of a bacterial chromosome after one replication in
tritiated thymidine. According to the semiconservative model of replication, one
of the two strands should be radioactive. Right: Interpretation of the
autoradiograph. The light blue line represents the tritiated strand
Left: Autoradiograph of a bacterial chromosome in the second round of replication in tritiated
thymidine. In this theta (θ) structure, the newly replicated double helix that crosses the circle
could consist of two radioactive strands (if the parental strand was the radioactive one). Right:
The double thickness of the radioactive tracing on the autoradiogram appears to confirm the
interpretation shown here. The light blue helices represent the "hot" strands.
Rolling-circle replication. Newly synthesized DNA is light blue
 DNA-gyrase-catalyzed supercoiling. Replicating DNA
generates "positive" supercoils, depicted at the bottom of
the diagram, as a result of rapid rotation of the DNA at the
replication fork. DNA gyrase can nick and close
phosphodiester bonds, relieving the supercoiling, as
shown here (relaxed DNA). Gyrase can also generate
supercoils twisted in the opposite direction, termed
negative supercoils; this arrangement facilitates the
unwinding of the he
Chain-elongation reaction catalyzed by DNA polymerase
Bidirectional replication of a circular
DNA molecule
DNA replication fork.
Initiation of DNA synthesis by an
RNA primer.
 DNA synthesis proceeds by
continuous synthesis on the leading
strand and discontinuous synthesis
on the lagging strand.
 The overall structure of a
growing fork (top) and steps
in the synthesis of the lagging
strand.
Telomerase carries a short RNA molecule that acts as a template for the
addition of the complementary DNA sequence at the 3 end of the double
helix. In the ciliate Tetrahymena, the DNA sequence added is TTGGGG.
The 3 5 exonuclease action of DNA polymerase III
Pairing between the normal (keto) forms of the bases
 Mismatched bases. (a) Mispairs resulting from rare tautomeric forms of the
pyrimidines; (b) mispairs resulting from rare tautomeric forms of the purines
Pairing between the normal (keto) forms of the bases
The dideoxy sequencing method