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Basic Genes
More
genetics, gotta love meiosis. As most of us know, parents pass along their
genetic information to offspring. Both the mother and the father donate one set
of chromosomes from a pair. We have different forms of genes, called alleles,
that code for the same information. In simple cases there are only two alleles
per gene and organisms usually only carry two, one from each parent. However
there can be many forms of the same gene in a population.
The
simplest example of allele differentiation is the famous pea plant height gene.
Pea plants have two alleles for height, often denoted as “T” for the tall gene
and “t” for the short gene. It was found that the tall allele covers, or obscures,
the short allele whenever it is present in an organism. Alleles such as this
are referred to as dominate. The short allele is only expressed when a tall
allele is not present. These alleles are called recessive.
Image credit here. |
Gregor
Mendel conducted experiments with pea plants to determine this information. He
created purebred plants by crossing pea plants with the tall trait many
times through many generations to weed out the short alleles. He did
the same process with plants that were short as he did not know the short
alleles were recessive. After this he crossed pure plants with each trait.
Pea
plants with two alleles for the dominate trait, TT, are called homozygous dominate
and those with two recessive, tt, are called homozygous recessive. When these
plants are crossed they produce offspring with Tt alleles, known as
heterozygous. When two heterozygous pea plants were crossed it was found that
three-fourths of the offspring were tall and one-fourth were short.
Different
alleles are passed on from parent to offspring. However, there are conditions
that affect the outcomes of crosses.
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Colorblindness
In
humans you have to have at least one functioning color sight allele to have
normal vision. The colorblindness gene is a sex linked gene, meaning it is
carried on the sex chromosomes. In this case, specifically on the X. Females
have two X chromosomes and males have an X and a Y. This makes males more susceptible
to colorblindness. If a mother only has one good color gene, then there is a
fifty-fifty shot that her son will have colorblindness.
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If
a female has the gene for colorblindness it does not necessarily mean she will
be colorblind. The colorblindness gene is recessive so if she has a good X
without the gene, her vision will be perfectly normal. If a female is
heterozygous for a sex linked gene, she is known as a carrier.
There’s
the downside for males. They only have one X. So if they get a screwed up color
gene, they’re going to have screwed up vision. It is not impossible for women
to inherit the abnormality but it is much less common than occurrence among
men.
Colorblindness
has a range of severity. Cones in the eyes perceive colors. The genes in the cones
contain instructions for creating
different protein pigments. These pigments allow colors to be absorbed and interpreted
by the brain. A variation in these genes can create different pigments, causing
colors to be absorbed in an altered way.
You should see a 2 in the circle. Image credit here. |
Interestingly,
the human eye has three
color absorbing pigments in different cones. The L-cone contains pigments
that absorb long wavelength light, yellows and reds. The M-cone detects
midrange wavelengths, greens, and the S-cone has pigments that absorb blues.
Despite
what some people think, many people who are colorblind don’t see in grey-scale.
They can still see color, their eyes just have a difficult time differentiating
between colors. I know a couple people who are colorblind and they often
confuse shades of green and yellow, red and orange, and blue and purple. No
matter how enjoyable it is to mess with people with colorblindness, you shouldn’t
constantly ask them what color an object is.
Image credit here. |
Injections in the Eye. It won’t hurt, I promise.
Image credit here. |
Gene
therapy is the future of medicine. Diseases like HIV and genetic disorders can
be treated with gene therapy. Researchers have even cured colorblindness in
monkeys.
According
to Popular
Science, Jay and Maureen
Neitz of Washington
University successfully cured the colorblindness of monkeys. Genes were artificially
inserted into the retinas of the monkeys through surgery.
The
two male squirrel monkeys that were treated had red-green colorblindness and
had been colorblind since they were born, according to Nature.com.
The procedure involved inserting the gene to correct the colorblindness into a
virus. The virus was then “injected behind the retina” of the two monkeys. Using
gene therapy, the monkeys gained the ability to create more color absorbing
pigments. The monkeys were named Dalton and Sam.
Image credit here. |
After
the treatment, the monkeys could see color. Their ability to differentiate color
was determined
using a screen test. If the monkey touches the red colored dots, he was
rewarded with grape juice.
However,
researchers hope to find a way to enable this process using a noninvasive injection into
the fluid in the eye. This is under development but scientists hope to
carry out human trials in the next couple of years.
Image credit here. |
Although
colorblindness is not a seriously debilitating disease, finding ways to treat
it could improve the lives of many people. According to the Washington
University website, every 1 in 12 men and every 1 in 230 women is affected
by colorblindness. Surprisingly as many as 1
in 4 women are carriers of the gene. This sort of treatment could
eventually be used commonly in humans.
However,
the effects of this therapy are not limited to people with colorblindness.
Using this technology we could artificially end colorblindness. We would
essentially be wiping out a genetic illness. The implications of this are
incredible! With genetic therapy we could eventually end many genetic diseases
and disorders.
Thanks
for reading! I hope you see all the colors <3
Want
to find out if you’re colorblind? Take this test.
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