Upload
m1k0l0g1
View
226
Download
0
Embed Size (px)
Citation preview
7/30/2019 Color Blind Labwork
1/18
GENETIC LABWORK
COLOR BLIND
BY:
MISRAI FARAUK
100210103057
BIOLOGY EDUCATION STUDY PROGRAM
DEPARTMENT OF MATHEMATIC AND SCIENCE EDUCATION
FACULTY OF TEACHER TRAINING AND EDUCATION
2011
7/30/2019 Color Blind Labwork
2/18
I. TITLE : COLOR BLIND
II. PURPOSE :
Do the test of color blind
III. BASIC THEORY
The first important sense is vision senses (eye). Eyes are the senses that are
used to seeing in the surrounding environment so as to form an image by identifying
the objects around him quickly. People who do not have the eye called the blind. The
eye is a vision for receiving light stimuli. Part of the eye that is sensitive to light is the
yellow spots are present in the retinal layers.
We can see objects when light stimuli received by the retina right at the
yellow spots, and then transmitted by nerve stimulation to the brain visual center in
the brain. However, sometimes there are abnormalities that occur in a person due to a
genetic abnormality or an accident. It would be nice if a parent can detect
abnormalities in color blind since early childhood. (Meriem, 2011).
Color blind is a vision disorder caused by the inability of cone cells (cone
cells) in the retina of the eye to capture a specific color spectrum so that the color of
objects that look is not the real color. The disorder is generally a hereditary, caused
by a recessive gene "c" an X-linked (Xc). The term color blindness can be interpreted
as a vision disorder caused by the inability of cone cells in the retina of the eye to
capture a certain color so the color spectrum of visible objects is not the true color of
(Karina, 2007).
In other words, color blindness or color vision deficiency is the inability or
decreased ability to see color , or perceive color differences, under lighting conditions
when color vision is not normally impaired. "Color blind" is a term of art; there is no
actual blindness but there is a fault in the development of either or both sets of retinal
cones that perceive color in light and transmit that information to the optic nerve. The
gene that causes color blindness is carried on the X chromosome, making the
handicap more common among men (who have just one X chromosome) than among
http://en.wikipedia.org/wiki/Color_visionhttp://en.wikipedia.org/wiki/Colorhttp://en.wikipedia.org/wiki/Colorhttp://en.wikipedia.org/wiki/Retinahttp://en.wikipedia.org/wiki/Retinahttp://en.wikipedia.org/wiki/Colorhttp://en.wikipedia.org/wiki/Retinahttp://en.wikipedia.org/wiki/Retinahttp://en.wikipedia.org/wiki/Color_vision7/30/2019 Color Blind Labwork
3/18
women (who have two, so must inherit the gene from both parents) (Wikipedia,
2011).
We can know someone suffer color blind or not, use color blind test. Shinabu
Isnihara have designed art picture that can use to color blind test and can make
accurate result about inheritance color blind (Genetic Team, 2011).
4 Sex-Linked Traits:
1. Normal Color Vision:A: 29, B: 45, C: --, D: 26
2. Red-Green Color-Blind:A: 70, B: --, C: 5, D: --
3. Red Color-blind:A: 70, B: --, C: 5, D: 6
4. Green Color-Blind:A: 70, B: --, C: 5, D: 2
Source: (Armstrong, 1988)
The retina has two kinds of cells are stem cells and cone cells are sensitive to
light. Stem cells are more sensitive at night and also black and white. Whereas more
cone cells work in the daytime that is sensitive to a variety of colors. There are 3
types of cones, each most sensitive to the color spectrum of red, green, and blue
(Karina, 2007).
Cone cells and stem cells in the retina have different functions. Stem cells can
not distinguish colors and more intensive towards the light, cone cells require more
lighting to stimulate these cells. Color vision caused the three subclasses of cone
cells, each having its own its opsin type and are associated with retinal to form the
visual pigment photopsin. Cone photoreceptors as red, green and blue. Absorption
spectrum for these pigments overlap and the brain's perception of the pattern of
intermediates depends on the difference of two or more cone stimulation. Example,
when red and green cone cells are stimulated we may be biased to see the color
yellow or orange, depending on the cone cells are most strongly stimulated. Color
blindness is more common in men than women because generally inherited as sex
linked properties (Campbell, 2002).
People with color blindness can not distinguish certain colors. For example
red, green. and blue. Color blindness is a hereditary disease that is incurable. Each
7/30/2019 Color Blind Labwork
4/18
cone reacts to different colors of light are red, blue or green. Damage to a cone
causing mild color blindness. If the cone is completely broken, color blindness
becomes more severe. Color blindness affects more men than women. The most
common cause of color blindness is a hereditary factor. Other causes are
abnormalities acquired during life, such as accidents or trauma to the eye (Frita,
2010).
If the stem cells and cone cells are stimulated, the signal will continuous
through a series of nerve cells in the retina itself and eventually into the fibers of the
optic nerve and cerebral cortex (Guyton and Hall, 1996).
Color blindness can be classified into 3 types according to Dickyspeed (2009):
1. Trichromasi types of color blindness is a change in the color sensitivity of one or
more types of cone cells. There are three kinds of trikomasi namely:
a. Protanomali which is a weakness in red.
b. Deuteromali the green color weakness.
c.Tritanomali (low blue) that is the weakness in blue. This type of color
blindness is most often experienced than other types of color blindness.
2. Dichromasi an absence of one of three types of cone cells, consisting of:
a. Protanopia namely the lack of red cones so that the brightness of the color red
and something in between reduced.
b. Deuteranopia namely the lack of cone cells are sensitive to green.
c. Tritanopia to blue.
3. While monochromasi characterized by loss or reduction of all color vision, so that
looks just white and black on the type of typical and a little color on what kind of
atypical. This type of color blindness is extremely rare prevalence
The most common cause of color blindness is inherited, disorder occurs
usually in both eyes, but it does not deteriorate with the passing age. Other causes are
abnormalities acquired during life, such as accidents / trauma to the retina and brainabnormalities generally occur only in one eye and can often function decline over
time. Besides color blindness can also be caused by Shaken Baby Syndrome (which
can cause damage to the retina and brain so that there was color blind) or exposed to
UV radiation (not wearing protective) (Wikipedia, 2011).
The gene for color blindness associated with the X chromosome (X-linked
genes). So the possibility of a man who has genotype XY for color blindness is a
7/30/2019 Color Blind Labwork
5/18
derivative exposure is greater than women who have genotype XX for color blindness
affected. If only related to one of her X chromosomes, the woman called a carrier or
carriers, which can reduce the gene for color blindness in children. According to one
study 5-8% of men and 0.5% of women are born color-blind. And 99% of people
with color blindness include dicromasi, protanopia, and deuteranopia (Karina, 2007).
Genes are the heredity units a living organism. These genes encoded in the
organism's genetic material, which we know as molecules of DNA, or RNA in some
viruses, and its expression is influenced by internal or external environment such as physical or behavioral development of the organism. Genes are composed of both the
sequence of nucleotide bases that encodes a genetic information (gene-coding region
as exon) and also areas that do not encode genetic information (non-gene-coding
regions as introns), it is important for the formation of a protein whose function is
required at the level of cells, tissues, organs or whole organisms.
DNA molecules carry hereditary information from the cell and protein
components (histone molecules) of the chromosome has important functions in the
packaging and control of a very long DNA molecules that can fit inside the nucleus
and is easily accessible when needed. During reproduction, the haploid number of
chromosomes and genetic material DNA is only half of each parental, and is called
the genome. In eukaryotic individuals (individuals who have a true nucleus),
differentiated human chromosomes into autosomes and sex chromosomes. One part
of the X-chromosome that is not homologous with part of the Y-chromosome (Suryo,
1994).
Color blindness is a genetic disorder or default derived from parent to child, is
often called sex linked disorder, because the disorder is brought about by
chromosome X. This means that the Y chromosome does not carry the color blind
factor. This is what differentiates between people with color blindness in men and
women. Women with a nature, is physically not experience disorder color blind asnormal women in general. But women with hereditary factors potentially lower the
color blind to his future (Bejo, 2008).
It has been known that the individual had two kinds of chromosomes, the
autosomes and sex chromosomes. Because individual females and males have the
same autosome, then the nature of the offspring is determined by genes on autosomes
7/30/2019 Color Blind Labwork
6/18
is inherited from parents to their children regardless of sex. For example the nature of
heredity as more fingers, hair and eye color or albino may be inherited, but F1 and F2
offspring never mentioned sex.
In addition to autosomal genes, also known genes contained in the sex
chromosomes. This event is called a series of sex (sex linkage). Genes that are strung
on sex chromosomes are called genes strung sex (sex-linkage genes). The strung-X
gene (X-linked genes) are genes that are strung on the X chromosome and gene-
strung-Y (Y-linked genes) are genes that are strung on the Y-chromosome (Suryo,1994).
Red-green color blindness is in the majority of cases provoked through a
defective X-chromosome. Human beings have 23 different pairs of chromosomes
whereof one pair is the so called sex-chromosome. This pair consists of two X-
chromosomes on women and one X- coupled with one Y-chromosome on men. Color
vision in the red-green area is coded on the X-chromosome which is called a sex
linked trait.
This concludes if a man is a carrier of a defective X-chromosome he will
suffer from color blindness. On women the not defective chromosome is in charge
and therefore she is not color blind but a carrier for color blindness. Because a
women needs two defective X-chromosome to be affected this sympstome is called
X-linked recessive . A very interesting conclusion of this: If you are male and your
father suffers from a red-green color vision deficiency you can not inherit it from
him. Only women can be carriers for color blindness who pass it on to their sons.
Possibility pedigree of in color blind inheritance:
Source: Wikipedia. 2011: http://en.wikipedia.org/wiki/Color_blindness .
http://en.wikipedia.org/wiki/Color_blindnesshttp://en.wikipedia.org/wiki/Color_blindnesshttp://en.wikipedia.org/wiki/Color_blindness7/30/2019 Color Blind Labwork
7/18
Lets have a look at some illustrations. On the left you can see how the
disorder is passed on from an affected father to his children. The sons are unaffected
and do not have the mutation. The daughters are not affected but are both carriers of
the disorder because they inherited the defective X-chromosome from their father.
The illustration on the right side shows a mother which is a carrier and a father which
is unaffected. Their son is at a rate of 50% affected i.e. red-green color blind and their
daughter is at the same rate either are carrier or unaffected. (Wikipedia, 2011).
Source: Wikipedia. 2011: http://en.wikipedia.org/wiki/Color_blindness
In the last illustration we coupled an affected man with a women which is a
carrier. As you can see their children are at a rate of 50% affected. This is the only
case shown here, where a women can be affected i.e. suffering from a red-green color
blindness. If the children are unaffected the daughter is anyway a carrier of the
disorder. The not shown combinations where man and women are either both affectedor both unaffected are left to the reader
Clinical trials test commonly used to detect of defects Ishihara color blindness
test and the test is the American Optical HRR pseudoisochromatic.
These methods are used to quickly determine a color-blind disorder based on the use
of cards dotted with a variety of colors that make up the numbers (Ishihara) and
symbols (HRR). Meanwhile, to make definite classification of protanopia,
deuteranopia, protanomali, and deuteranomali require the use of which involves
matching color anomaloscope.
http://en.wikipedia.org/wiki/Color_blindnesshttp://en.wikipedia.org/wiki/File:XlinkRecessive.jpghttp://en.wikipedia.org/wiki/Color_blindness7/30/2019 Color Blind Labwork
8/18
IV. OBSERVATION METHOD
IV.1 Materials and Equipments
Brightly room
Book of color blind test
IV.2 Work Procedures
Prepare book of color blind test
Let participators form a group to do color blind test one by one
Make group data and class data
Do more analysis for them that suffer color blind
7/30/2019 Color Blind Labwork
9/18
V. OBSERVATION RESULT
No. Group Probandus Mistake
1. 1 Tita Enestya 02. 2 Martin Artiyono 1
3. 3 Irfan Fauzi 3
4. 4 Haqqi Anajili 0
5. 5 Ester Yuliana 1
6. 6 Tias Rahayu 1
VI. ANALYSIS
This observation labwork is performed to know the extent ability of cone cells
in the our retina be able to distinguish colors. The indicator that we use in this
observation labwork is the Ishihara test books that match between probandus answer
with art number color in Ishihara test books that examined by lecturer assistancescomparation. From the results that we obtained, the data show that probandus of the
groups is not suffer color blind. This prove by probandus answer, when reading the
numbers on the Ishihara test and looked by comparison or lecturer assistances .
Diagnosis of color blind can be known according to anamnesis, and other
support test. Suitable anamnesis like color blind history in family or cranial trauma
history that can cause neural or eye disorder. Usually Ishihara test book that often
used is 38 plate edition. The contain, 1 - 25 plate is number picture (numeral) that be
better answered by probandus not more than 3 seconds. Then 26 38 plate is pattern
that connect to lines between 2 x and usually answered by probandus in 10 seconds.
Reading 26 28 plate determine normal or abnormal (color blind) of
probandus. If probandus can can read correctly 17 plate or more, so probandus have
normal sight or not suffer color blind. But if probandus just can read correctly 13
7/30/2019 Color Blind Labwork
10/18
plate or less, so probandus suffer color blind or experiences of sight degradation of
color. This condition also can be seen if probandus more easily to read 18, 19, 20 and
21 plate as 5, 2, 45, and 73 than when probandus read 14, 10, 13, and 17 plate. But in
this observation labwork we just use 14 plate to test probandus. In this test probandus
is normal if can read 10 plate or more from 1 11. If can read correctly 7 plate or less
so will classified suffer color blind. so if use 14 plate probandus at least false 4 plate.
The explanation of observation result will describe one by one:
1. Tita Enestya (first group) can answer all question about Ishiharanumber test, so the mistake is 0 (zero). Can make conclusion that Tita Enestya
is normal or does not suffer color blind.
2. Martin Artiyono (second group) can answer 13 plate correctly from
14 plate. So just one mistake. And can make conclusion that Martin Artiyono
is normal or does not suffer color blind.
3. Irfan Fauzi (thirth group) can answer 11 plate correctly from 14 plate.
So three mistake in the test, according to literature if the mistake just three the
probandus can classified in normal. So can make conclusion that Irfan Fauzi is
normal or does not suffer color blind.
4. Haqqi Anajili (fourth group) can answer all question about Ishihara
number test, so the mistake is 0 (zero). Can make conclusion that Haqqi
Anajili is normal or does not suffer color blind.
5. Ester Yuliana (fifth group) can answer 13 plate correctly from 14
plate. So just one mistake. And can make conclusion that Ester Yuliana is
normal or does not suffer color blind.
6. Tias Rahayu (sixth group) can answer 13 plate correctly from 14
plate. So just one mistake. And can make conclusion that Tias Rahayu is
normal or does not suffer color blind.
From the ability of cone cells in the retina of each probandus, it is possible
that there is no family of probandus who experience or suffer color blindness.
Because we know that one of the causes of color blindness is a gene that inheritance
from descendent in which genes that regulate this color blind by sex linked on the X
chromosome. It could be normal or carrier women probandus color blind. However,
in this labwork we can not know the genotype of each probandus because the cost of
DNA tests need much fund.
7/30/2019 Color Blind Labwork
11/18
Someone that suffer color blind, miss or loss one cone cell or their cone cellshave absorption limitation that difference with normal. Meanwhile in normal human
there are 3 types of cone cell with difference light spectrum degree, they are S-cone,
M-cone, and L-cone. Cone cells and cylindrical cells in the retina have different
functions. cylindrical cells can not distinguish colors and more intensive towards the
light, cone cells require more lighting to stimulate these cells. Color vision caused the
three subclasses of cone cells, each having its own opsin type and are associated with
retinal to form the visual pigment phototopsin. Cone photoreceptors as red, green and
blue. Absorption spectrum for these pigments overlap and the brain's perception of
the pattern of intermediates depends on the difference of two or more cone
stimulation. Example, when red and green cone cells are stimulated we may to see the
color yellow or orange, depending on the cone cells are most strongly stimulated.
Color blindness is more common in men than women because generally inherited as
sex linked properties.
We know that color blind is controlled by recessive gene (c). This gene linked
in X chromosome. There are 5 possibility of genotype in color blind:
1. XCXC : normal female
2. XCXc : carrier female
3. XcX c : color blind female
4. XCY : normal male
5. XcY : color blind male
Here is type of marriage that possible in inheritance of color blind:
Marriage type 1
If there are wife (female) and husband (male), female is normal (X CXC) and
male is also normal (X CY). So the phenotype of their children:
7/30/2019 Color Blind Labwork
12/18
7/30/2019 Color Blind Labwork
13/18
Normal female ( ) : 25 %
Carrier female ( ) : 25%
Normal male ( ) : 25 %
Color blind male ( ) : 25 %
Marriage type 4
If there are wife (female) and husband (male), female is carrier (X CXc) male is
color blind (X cY). So the phenotype of their children:
P: Carrier female ( ) >< Color blind male ( )
(XCXc) (X cY)
G: X C, X c Xc, Y
F1: X CXc, X cXc, X CY, X cY
Carrier female ( ) : 25 %
Color blind female ( ) : 25%
Carrier male ( ) : 25 %
Normal male ( ) : 25 %
Marriage type 5
If there are wife (female) and husband (male), female is color blind (X cXc)
male is normal (X CY). So the phenotype of their children:
P: Color blind female ( ) >< Normal male ( )
7/30/2019 Color Blind Labwork
14/18
(X cXc) (X CY)
G: Xc
XC
, Y
F1: X CXc, X cY
Carrier female ( ) : 50 %
Color blind male ( ) : 50 %
Marriage type 6
If there are wife (female) and husband (male), female is color blind (X cX c)
and male is also color blind (X cY). So the phenotype of their children:
P: Color blind female ( ) >< Color blind male ( )
(X cXc) (X cY)
G: X c Xc, Y
F1: X cXc, X cY
Color blind female ( ) : 50 %
Color blind male ( ) : 50 %
From the all marriage types, we cant to find carrier in male. Its because in
chromosome in male consist of X chromosome and Y chromosome. Meanwhile we
know that gene recessive of color blind (c) just linked in X chromosome. Because of
male just have one X chromosome in genital cell, so this X chromosome only can
occupied by C gene that result in normal to determine color or linked by gene
recessive of color blind (c) that effect someone suffer color blind. That why, nothing
carrier in male.
VII. CONCLUSION
Color blind is a vision disorder caused by the inability of cone cells (cone
cells) in the retina of the eye to capture a specific color spectrum.
7/30/2019 Color Blind Labwork
15/18
The disorder is generally a hereditary, caused by a recessive gene "c" an X-
linked (X c).
Someone that suffer color blind, miss or loss one cone cell or their cone cells
have absorption limitation that difference with normal.
We can do the test of color blind use anamnesis and clinical trials.
All probandus in this labwork activity are not suffer color blind according to
Isnihara test.
Nothing carrier in male because male chromosome consist of X chromosomeand Y chromosome. So gene C (normal ) and c (cb) only can linked in X
chromosome.
VIII. REFERENCES
Armstrong, W.P. 1988. Biology Laboratory Manual & Workbook .
Edina, Minnesota: Burgess International Group, Inc.
Bejo. 2008. Color Blind Test. [online] http://rxbejo.blogspot.com/2008/11/tes-buta-
warna.html. Accessed at Jember on November 6, 2011.
Campbell, Neil A., Jane B. Reece & Lawrence G. Mitchell. 2002. Biology Fifth
Edition Volume 3. New York: publisher.
Dickyspeed. 2009 . Color Blind . [online] http://dickspeed.blogspot.com/2009/05/
buta-warna.html. Accessed at Jember on November 6, 2011.
Frita. 2010. Eye 1 . [online] http://fri3ta.files.wordpress.com/2010/06/mata1.pdf.
Accessed at Jember on November 6, 2011.
Genetic Team. 2011. Genetic Labwork Module . Jember: Jember University.
Guyton and Hall, 1996, Buku Ajar Fisiologi Kedokteran , edk 9, trans. dr. Irawati
Setiawan, Penerbit Buku Kedokteran EGC, Jakarta.
Karina, Nina. 2007. Mengenal Lebih Dekat Buta Warna .
http://mengenallebihdekatbutawarna.wordpress.com/2010/04/ . accessed on
November 4 2011.
http://dickspeed.blogspot.com/2009/05/http://mengenallebihdekatbutawarna.wordpress.com/2010/04/http://dickspeed.blogspot.com/2009/05/http://mengenallebihdekatbutawarna.wordpress.com/2010/04/7/30/2019 Color Blind Labwork
16/18
Meliem, Selis. 2011. Color blind Labwork report . [online]
http://selismeriem.wordpress.com/category/laporan-praktikum/ . accessed et
Jember on November 4, 2011.
Suryo, 1994, Genetika Manusia , Gadjah Mada University Press, Yogyakarta.
Wikipedia. 2011. Color blind . [online]: http://en.wikipedia.org/wiki/ Color_ blindness. Accessed at Jember on November 4, 2011.
IX. ADDITION
Are you color blind? Lets check it out!
http://selismeriem.wordpress.com/category/laporan-praktikum/http://en.wikipedia.org/wiki/http://selismeriem.wordpress.com/category/laporan-praktikum/http://en.wikipedia.org/wiki/7/30/2019 Color Blind Labwork
17/18
http://www.psych.ndsu.nodak.edu/mccourt/Psy460/Color%20Vision/Ishihara%20Plates/ishihara%20plate%2015.JPG7/30/2019 Color Blind Labwork
18/18
for correction can call me!