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TT2 2023 - Clase 4 - Genetics I
TT2 2023 - Clase 4 - Genetics I
Descripción
1. GENETICS - OVERVIEW
Definition
Genetics is the branch of science concerned with genes, heredity[U1], and variation in living
organisms. It seeks to understand the process of trait inheritance [U2] from parents to offspring
[U3], including the molecular structure and function of genes, gene behavior in the context of a
cell or organism, gene distribution, and variation and change in populations.
[U1] herencia
[U2] avances
[U4] supervivencia
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Coding for Proteins
DNA holds the code for proteins, which are complex molecules that do huge amounts of work
around our body. Information in DNA is initially 'read' and then it is transcribed into a
messenger molecule. After, the information held in this messenger molecule is translated into a
'language' that the body can understand. This language is one of amino acids, which are also
known as the building blocks of proteins. It is this specific language that dictates how the amino
acids should produce a particular protein. If you think about the twenty different kinds of amino
acids, you can see that the ordering can produce an enormous variety of proteins.
DNA Replication
DNA replication is vital for a virtually endless list of functions, from reproduction to maintenance
and growth of cells, tissues and body systems. To copy itself, a DNA molecule essentially
'unzips,' [U1] thus resulting in a series of bases without pairs [U2] along the backbone [U3] of
the molecule. DNA has four bases - all part of a nucleotide that also consists of a sugar and
phosphate. The four bases in DNA are very specific about which base they will attach to, which
means that adenine only pairs with thymine and guanine will only pair with cytosine. As the
nucleotides connect with unpaired bases on the backbone of the DNA molecule, they build a
new strand [U4] that complements - or matches[U5] - the original sequence. The end result is a
strand that is a perfect match to the original one prior to it unzipping.
Cells in your body replicate[U6] for purposes such as making new skin or blood cells [U7].
When mistakes occur, there are repair systems in place to remedy the mistake or alternately, a
cell has a marker for destruction. If a cell survives a mutation, there are still benefits to an
organism. In fact, this concept is essentially the basis for evolution.
[U1] se despliega
[U4] cadena
Genetic Code
DNA is important in terms of our genetic code, in the sense that it transfers genetic messages
to all of the cells in your body. If you think about DNA in a reproductive sense, consider that the
joining of an egg [U1] and sperm [U2] to create your first cell provided your completed genetic
code that your body would use for all of your life. Within that initial cell, half of your
chromosomes - containing your DNA - came from your father and half came from your mother.
DNA clearly plays important roles in the human body and is one of the most significant
discoveries of the twentieth century. Our continued research and knowledge of DNA functions
will likely help us to learn even more about this important molecule.
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[U1] óvulo
[U2] espermatozoide
Proteins are probably the most important class of material in the body. Proteins are not just
building blocks for muscles, connective tissues, skin, and other structures. They also are
needed to make enzymes. Enzymes are complex proteins that control and carry out nearly all
chemical processes and reactions within the body. The body produces thousands of different
enzymes. Thus, the entire structure and function of the body is governed by the types and
amounts of proteins the body synthesizes. Protein synthesis is controlled by genes, which are
contained on chromosomes.
The genotype is a person's unique combination of genes or genetic makeup. Thus, the
genotype is a complete set of instructions on how that person's body synthesizes proteins and
thus how that body is supposed to be built and function.
The phenotype is the actual structure and function of a person's body. The phenotype typically
differs somewhat from the genotype because not all the instructions in the genotype may be
carried out (or expressed). Whether and how a gene is expressed is determined not only by
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the genotype but also by the environment (including illnesses and diet) and other factors, some
of which are unknown.
Genes
DNA:
Genes consist of deoxyribonucleic acid (DNA). DNA contains the code, or blueprint, used to
synthesize a protein. Genes vary in size, depending on the sizes of the proteins for which they
code. Each DNA molecule is a long double helix that resembles a spiral staircase containing
millions of steps. The steps of the staircase consist of pairs of four types of molecules called
bases (nucleotides). In each step, the base adenine (A) is paired with the base thymine (T), or
the base guanine (G) is paired with the base cytosine (C).
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1.2. GENETIC DIAGNOSTIC TECHNOLOGIES
Genetic diagnostic technologies are scientific methods that are used to understand and
evaluate the genes of an organism.
Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein
that functions in one or more types of cells in the body.
Genetic diagnostic technology is rapidly improving. Various methods may be used to copy
segments of a gene or to find changes in genes.
Gene probes
A gene probe can be used to locate a specific part of a gene (a segment of the DNA of a gene)
or a whole gene in a particular chromosome. Probes can be used to find normal or mutated
segments of DNA. A DNA segment that has been cloned or copied becomes a labeled probe
when a radioactive atom or fluorescent dye is added to it. The probe will seek out its mirror-
image segment of DNA and bind to it. The labeled probe can then be detected by sophisticated
microscopic and photographic techniques. With gene probes, a number of disorders can be
diagnosed before and after birth. In the future, gene probes will probably be used to test people
for many major genetic disorders simultaneously.
Some of these variations can help doctors diagnose genetic disorders. Next-generation
sequencing technologies are so sensitive that doctors can detect DNA from the fetus in a
sample of blood drawn from the mother and analyze it to determine whether the fetus has
Down syndrome. However, the sheer volume of information generated by analyzing the
genotype results in a variety of problems that sometimes make it difficult for doctors to
understand and interpret the results. Despite these issues, these techniques have become the
mainstay of genetic testing.
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2. GENÉTICA - GENERALIDADES
Definición de Genética
El término “genética” viene del griego y significa “raza, generación”. Es el campo de la biología
que busca indagar y comprender la herencia biológica que se transmite de generación en
generación, investigando sobre las características y aspectos fundamentales en este proceso
de padre a hijo. El principal objeto de estudio de la genética son los genes, formados por
segmentos de ADN (ácido desoxirribonucleico), una molécula que codifica la información que
existe en las células. De esta forma, el ADN controla la estructura y funcionamiento de cada
célula, con la capacidad de crear copias exactas de sí mismo.
Cada molécula de ADN está constituida por dos cadenas o bandas formadas por un elevado
número de compuestos químicos llamados nucleótidos. Estas cadenas forman una especie de
escalera retorcida que se llama doble hélice. Cada nucleótido está formado por tres unidades:
una molécula de azúcar llamada desoxirribosa, un grupo fosfato y uno de cuatro posibles
compuestos nitrogenados llamados bases: adenina (abreviada como A), guanina (G), timina
(T) y citosina (C).
La molécula de desoxirribosa ocupa el centro del nucleótido y está flanqueada por un grupo
fosfato a un lado y una base al otro. El grupo fosfato está a su vez unido a la desoxirribosa del
nucleótido adyacente de la cadena. Estas subunidades enlazadas desoxirribosa-fosfato
forman los lados de la escalera; las bases están enfrentadas por parejas, mirando hacia el
interior, y forman los travesaños.
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Los nucleótidos de cada una de las dos cadenas que forman el ADN establecen una
asociación específica con los correspondientes de la otra cadena. Debido a la afinidad química
entre las bases, los nucleótidos que contienen adenina se acoplan siempre con los que
contienen timina, y los que contienen citosina con los que contienen guanina. Las bases
complementarias se unen entre sí por enlaces químicos débiles llamados enlaces de
hidrógeno.
¿Qué es un genoma?
Un genoma es una colección completa de ácido desoxirribonucleico (ADN) de un organismo, o
sea un compuesto químico que contiene las instrucciones genéticas necesarias para
desarrollar y dirigir las actividades de todo organismo. Las moléculas del ADN están
conformadas por dos hélices torcidas y emparejadas. Cada hélice está formada por cuatro
unidades químicas, denominadas bases nucleótidicas. Las bases son adenina (A), timina (T),
guanina (G) y citosina (C). Las bases en las hélices opuestas se emparejan específicamente;
una A siempre se empareja con una T, y una C siempre con una G.
El genoma humano contiene aproximadamente 3.000 millones de estos pares de bases, los
cuales se encuentran en los 23 pares de cromosomas dentro del núcleo de todas nuestras
células. Cada cromosoma contiene cientos de miles de genes, los cuales tienen las
instrucciones para hacer proteínas. Cada uno de los 30.000 genes estimados en el genoma
humano produce un promedio de tres proteínas.
Los genes son segmentos de ácido desoxirribonucleico (ADN) que contienen el código para
una proteína específica cuya función se realiza en uno o más tipos de células del cuerpo.
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Sondas genéticas
Para localizar una parte específica de un gen (un segmento de ADN de un gen) o todo un gen
en un cromosoma determinado, se puede utilizar una sonda genética. Las sondas pueden
usarse para localizar segmentos de ADN mutados o normales. Un segmento de ADN que se
ha clonado o copiado se convierte en una sonda marcada después de agregarle un átomo
radiactivo o un colorante fluorescente. La sonda busca un segmento de ADN que sea su
contraimagen (que contenga su secuencia complementaria) y se adhiere a él. Posteriormente,
esa sonda marcada puede detectarse utilizando técnicas microscópicas y fotográficas
sofisticadas. Mediante las sondas genéticas es posible diagnosticar un buen número de
enfermedades antes y después del nacimiento.