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Genetic Disorders Occur When A Mutation Affects Your Genes
Genetic Disorders Occur When A Mutation Affects Your Genes
Chromosomal: This type affects the structures that hold your genes/DNA within each cell
(chromosomes). With these conditions, people are missing or have duplicated chromosome
material.
Complex (multifactorial): These disorders stem from a combination of gene mutations and other
factors. They include chemical exposure, diet, certain medications and tobacco or alcohol use.
Single-gene (monogenic): This group of conditions occurs from a single gene mutation.
To understand genetic disorder causes, it’s helpful to learn more about how your genes and DNA
work. Most of the DNA in your genes instructs the body to make proteins. These proteins start
complex cell interactions that help you stay healthy.
When a mutation occurs, it affects the genes’ protein-making instructions. There could be missing
proteins. Or the ones you have do not function properly. Environmental factors (also called
mutagens) that could lead to a genetic mutation include:
Chemical exposure.
Radiation exposure.
Smoking.
There is often little you can do to prevent a genetic disorder. But genetic counseling and testing
can help you learn more about your risk. It can also let you know the likelihood of passing some
disorders on to your children
Types
Down syndrome is a genetic disorder. Most babies are born with 23 pairs of chromosomes within
each cell for a total of 46. A chromosome is a structure that contains genes, which are made up of
your DNA.
Each human cell typically contains 23 pairs of chromosomes. Down syndrome occurs because of
changes in the way cells in chromosome 21 divide. Every person with Down syndrome has an extra
amount of this chromosome in some or all of their cells.
In the most common type of Down syndrome, trisomy 21, the condition occurs randomly and isn’t
inherited. However, when translocation or mosaicism is the cause of Down syndrome, hereditary
(passed down among family members) should be looked at as a cause
Red-green color blindness. Red-green color blindness means that a person cannot see shades of
red and green (usually blue-green). But they can otherwise see normally. This condition has no
serious complications. But people affected may not be able to work in certain jobs such as
transportation or the Armed Forces, where seeing color is required. Males are affected more often
than females because the gene is located on the X chromosome.
Hemophilia. Hemophilia is a disorder in which the blood cannot clot correctly because of a lack of
a clotting factor called factor VIII. This results in heavy bleeding that will not stop, even from a
small cut. People with hemophilia bruise easily and can have internal bleeding into their joints and
muscles.
Inheritance. Because common myopia is a complex condition involving hundreds of genes, the
condition does not have a clear pattern of inheritance. The risk of developing this condition is
greater for first-degree relatives of affected individuals (such as siblings or children) as compared
to the general public.
8 A/B
Gemación
Fragmentación o segmentación
Término Significado
Reproducción sexual Proceso por el que se crea un individuo nuevo mediante dos organismos
parentales
Reproducción asexual Proceso por el que se crea un individuo nuevo a través de un solo padre
Sexual Asexual
Espermatozoide fecunda un óvulo Un solo organismo hace una copia exacta de sí mismo
Utilizada por animales, plantas con flores, algunos hongos Bacterias, algunas plantas y
hongos, pocos animales (esponjas)
Proporciona variablidad genética, pero requiere tiempo Rápida y fácil, pero no hay
variabilidad genética
Por ejemplo, la reproducción sexual permite al variabilidad, pero la gestación generalmente lleva
bastante tiempo y requiere una inversión parental importante. La reproducción asexual ocurre
rápidamente, pero dado que toda la descendencia tiene la misma información genética, los
individuos son más suceptibles a las enfermedades
Sexual Asexual
Used by animals, flowering plants, some fungi Bacteria, some plants and fungi, few animals
(sponges)
Provides genetic variation, but time-consuming Fast and easy, but no genetic variation