BY: MAFIDATUL ILMI
november 2011
I. TITLE
color-blind
II. PURPOSE
Conduct tests for color blindness
III. BASIC THEORY
· COLOR BLIND
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 opsinnya type and are associated with retinal to form the visual pigment fotopsin. Cone photoreceptors as red, green and blue. Absorption spectra 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 adrift 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 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 / trauma to the eye (Frita, 2010).
Through a color blind test one can know whether or not suffering from color blindness. Shinabu isnihara has designed an image that accurately art can be used for color blindness test and produce an accurate result of congenital color blindness. Most cases of congenital color blindness is red-green color blindness, if that can be divided into two, namely:
1. Deutan type, ie when the weak are the eyes that are sensitive to green color.
2. Protan type, ie when the weak are the eyes that are sensitive to red colour. (Tim Dosen Pembina , 2011)
1. Deutan type, ie when the weak are the eyes that are sensitive to green color.
2. Protan type, ie when the weak are the eyes that are sensitive to red colour. (Tim Dosen Pembina , 2011)
· CLASSIFICATION OF COLOUR BLIND
Color blindness itself can be classified into 3 types namely trikromasi, dikromasi and monokromasi. Trikomasi 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:
o Protanomali which is a weakness in red,
o Deuteromali the green color weakness,
o Tritanomali (low blue) that is the weakness in blue.
This type of color blindness is most often experienced than other types of color blindness.
Dikromasi an absence of one of three types of cone cells, consisting of:
· protanopia namely the lack of red cones so that the brightness of the color red and something in between is reduced
· deuteranopia kerujut namely the lack of cells that are sensitive to green, and tritanopia for blue.
· While monokromasi characterized by loss or reduction of all color vision, so that looks just white and black on the type of typical and atypical in few colors on the type. This type of color blindness is extremely rare prevalence. (Wikipedia)
• COLOR BLIND TEST
In color-blind test, a considered normal if they can be read with a plate exactly 10 or more 1-11. If read properly 7 plate or less then categorized the color blind. People with total color blindness can only be read correctly a plate that has a striking color change. (Tim Lecturer of Genetics, 2011)
There are a wide range of phenotypic tests for color blindness, the Ishihara plates, the American Optical HRR plates Pseudoisochromatic, Lantern test, and Anomaloscope. However, it is generally only used Ishihara test. To be able to categorize color blind protanopia, deuteranopia, protanomali, and deuteranomali, anomaloscope tests are needed.
Molecular Genetic Testing to find the causes of genetic abnormalities in genotipnya level by examining a series of related genes in the chromosome (in this case the X chromosome). Related genes are color blind anomalus trikromasi OPN1LW (opsin 1 long wave) which encodes a red pigment, and OPN1MW (opsin 1 middle wave) which encodes green pigment. All of pigment-related genes of cone cells are located in the Xq28 locus, located on chromosome X. Only two of these genes are expressed in photoreceptors in the retina that contribute to the phenotype of color perception. The third pigment gene or a teletak more distal from the gene sequence is expressed.
In molecular genetic analysis, which is commonly used is the polymerase chain reaction (PCR / Polymerase Chain Reaction), restriction fragment length polymorphism (RFLP), and Single Nucleotide Polymorphisms (SNPs / Single nucleotide Polymorfism). Direct sequence determination of a gene by DNA sequencing to identify genes from the first nucleotide to the last. Protein truncation test evaluates the size of a protein, because if a mutation causes a protein to be shorter than they should, the protein showed different chemical properties. Chain length was determined by gel electrophoresis. The assay can be used when the exact mutation is not known but can not detect non-shortening mutations, such as missense mutations. RFLP using restriction enzymes that cut DNA endonukleases at certain intervals based on sekuensinya. In the event of mutation, the enzyme can not cut the strand at the same place as the normal DNA, so that different fragments generated by a normal size. The fragments are then classified by size with gel electrophoresis. SNPs are directly identify many polymorphisms in the human genome. Some of the differences or variants of DNA may be a marker for certain diseases. DNA microarrays, or DNA chips are used to detect SNPs or polymorphism. DNA fragments on the chip is only binding on the complementary strand of nucleotides with a known DNA sequence.( Suryo. 1996)
In general, red-green color blindness is caused by the green pigment gene deletions or deletions 5 'combined red-green gene or 5' green-red combination of genes. Protan (protanomali and protanopia) associated with a 5 'red-green combination of genes. Deutan (deuteranomali and deuteranopia) associated with a 5 'red-green combination of genes, or 5' gene combination of green-red-green.
As a tool for people with color blindness, colored contact lenses available (ChromagenTM) (Cantor and Nissel) to filter out more clearly in the color spectrum. (Deeb, et al.., 2005). There is research that states color blindness can be cured with gene therapy, a way to inject directly into the eyes of the normal gene. But this new research center is a tested on monkeys, but if successful, is not impossible that this can also be applied to humans. (agathariyadi.wordpress.com)
IV. PRACTICUM METHODE
4.1 Tools and materials
1. The rooms are bright enough
2. Color blindness test book
4.2 How to Work
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IV.
V. RESULT
| No | Kelompok | Probandus | error |
| 1 | 1 | Tita | 0 |
| 2 | 2 | Martin | 1 |
| 3 | 3 | Irfan | 3 |
| 4 | 4 | Haqqi | 0 |
| 5 | 5 | Ester | 1 |
| 6 | 6 | Tias rahayu | 1 |
VI. DISCUSSION
Lab this time titled color blind. The purpose of this lab is to determine whether a person is color blind or not. This test is done in a way, reading a book probandus color blind test, in this book there is a sheet (plate) in the form of figures composed of points with a certain color and size. And note the error committed by probandus read yag. If probandus can read it right 10 plates or more than 1-11, then probandus considered normal. But if probandus can only be read properly 7 plate or less, then probandus categorized color blind. And if it can only read a plate that has a striking color differences, it is said probandus total color blindness.
Based on data from observations, probandus of group 1 and group 4 can be said to be color blind, because probandus not make a mistake in reading the plates, which means probandus can read it right 10 plate with no errors. In theory, if someone can read it right 10 plates or more than 1-11, then probandus considered normal.
Based on data from observations, probandus of group 1 and group 4 can be said to be color blind, because probandus not make a mistake in reading the plates, which means probandus can read it right 10 plate with no errors. In theory, if someone can read it right 10 plates or more than 1-11, then probandus considered normal.
Probandus of group 2, group 5 and group 6 can be said to be color blind, because probandus made only one mistake in reading the plates, which means probandus can be read correctly nine other plates. In theory, if someone can read it right 10 plates or more than 1-11, then probandus considered normal.
As for probandus of group 3 can be regarded as people with color blindness, because probandus do three times a read error, in other words probandus can only be read correctly 7 plate. based on the theory if probandus can only be read properly 7 plate or less, then probandus categorized color blind. However, in this analysis may also be wrong because of some random factors that occur during probandus color blind test. Errors may be a lack of accuracy when reading probandus plate, or kurangmya pencahayaamn gegrogi indoors. Probandus of group 3 included in the partial color blindness. Partial color blindness, persons with deficiency (lack of) pigment in the retina cells so it can not see a particular color. Combined deficiency of red and green are the most common disorders, whereas deficiencies rarely blue.
Color blindness is usually caused by genetic or heredity factors, where the properties are inherited from the mother to all boys and properties will be inherited from the father to all daughters. Color-blind nature adrift on the X chromosome, then the possibility of genotyping obtained as follows:
Color blindness is usually caused by genetic or heredity factors, where the properties are inherited from the mother to all boys and properties will be inherited from the father to all daughters. Color-blind nature adrift on the X chromosome, then the possibility of genotyping obtained as follows:
| Gender | Normal | Carrier | Color blind |
| male | XCY | - | XcY |
| female | XCXC | XCXc | XcXc |
1. Some possible offspring of crosses that can pass a color blind.
1. Crosses between normal women (XCXC) and normal male (XCY)
1. Crosses between normal women (XCXC) and normal male (XCY)
P : ♀ XCXC >< ♂ XCY
G : XC XC
Y
F1 : XCXC (normal), XCY (normal)
From the intersection of the above, it is known that the marriage between normal women (XCXC) and normal male (XCY), it will produce offspring XCXC (normal female) and XCY (normal male). With the phenotypic ratio of 1:1, with some probability of girls born to normal by 50%, and the boys were born to normal by 50%. In other words, marriage between normal female and normal male would produce 100% of normal children.
2. Crosses between normal women (XCXC) and men of color blindness (XcY)
P : ♀ XCXC >< ♂ XcY
2. Crosses between normal women (XCXC) and men of color blindness (XcY)
P : ♀ XCXC >< ♂ XcY
G : XC Xc
Y
F1 : XCXc (carrier), XCY (normal)
From the intersection of the above, it is known that the marriage between normal women (XCXC) and men of color blindness (XcY), it will produce offspring XCXC (female carrier) and (XCY) (normal male). With the phenotypic ratio of 1:1, with some probability a normal carrier daughter was born by 50%, and the boys were born to normal by 50%. From this marriage who is color blind lowering properties of genes from the father (parental father). Normal carrier daughters get the color blind gene from the father, because fathers can only lose the nature of color blindness in her daughter alone.
3. A cross between a female carrier (XCXC) and normal male (XCY))
P : ♀ XCXc >< ♂ XcY
P : ♀ XCXc >< ♂ XcY
G : XC Xc
Xc Y
F1 : XCXc (carrier), XCY (normal), XcXc (color blind), XcY (color blind).
From the intersection of the above, it is known that the marriage between the female carrier (XCXc) and normal male (XCY), it will produce offspring (XCXc) (normal), XCY (normal), (XCXc) (carrier), XCY (color blind). With the phenotypic ratio of 1:2:1, with some probability of children born to normal by 50%, normal carrier daughter was born by 25% and boys born color-blind by 25%. From this marriage who is color blind lowering properties of the gene from the mother (parental mother). The boys get a color blind color blind gene from the mother, because she can only lose the color-blind nature of her son.
4. A cross between a female carrier ((XCXc)) and men of color blindness (XCY)
P : ♀ XCXc >< ♂ XcY
4. A cross between a female carrier ((XCXc)) and men of color blindness (XCY)
P : ♀ XCXc >< ♂ XcY
G : XC Xc
Xc Y
F1 : XCXc (carrier), XCY (normal), XcXc (color blind), XcY (color blind).
From the intersection of the above, it is known that the marriage between the female carrier ((XCXc)) and men of color blindness (XCY), it will produce offspring (XCXc) (carrier), XCY (normal), (XCXc) (color blindness), XCY (color blind). With the phenotypic ratio of 1:2:1, with some probability to normal boys by 25%, normal carrier daughter was born by 25%, boys born color-blind by 25%, and daughters were born color-blind for 25%. From this marriage who is color blind lowering properties of maternal genes and genes from the father. The boys get a color blind color blind gene from the mother, because she can only lose the color-blind nature of her son. While girls get color blind color blind gene from the father.
5. Crosses between women of color blindness (XCXc) and normal male (XCY)
P : ♀ XcXc >< ♂ XCY
G : Xc XC
Y
F1 : XCXc (carrier), XcY (color blind).
From the intersection of the above, it is known that the marriage of women of color blindness (XcXc) and normal male (XcY), it will produce offspring XcXc (carrier), XcY (color blind). With the phenotypic ratio of 1: 1, with some probability a normal carrier daughter was born by 50%, boys born color-blind by 50%. From this marriage who is color blind lowering properties of the gene from the mother. The boys get a color blind color blind gene from the mother, because she can only lose the color-blind nature of her son. While not color-blind daughters only as a nature color blind.
6. Crosses between women of color blindness (XcXc) and men of color blindness (XcY)
P : ♀ XcXc >< ♂ XcY
G : Xc Xc
Y
F1 : XcXc (buta warna), XcY (color blindness).
From the intersection of the above, it is known that the marriage of women of color blindness (XcXc) and men of color blindness (XcY), it will produce offspring XcXc (color blind), and XcY (color blindness). In other words F1 100% color blind, with some probability of girls born color-blind by 50%, boys born color-blind by 50%. From this marriage who is color blind lowering properties of genes from mother and father. Because genes contain maternal and paternal genes are color blind, the one who produced nothing is normal or a carrier, both girls and boys 100% color blind.
From the intersection of the above, it is known that the marriage of women of color blindness (XcXc) and men of color blindness (XcY), it will produce offspring XcXc (color blind), and XcY (color blindness). In other words F1 100% color blind, with some probability of girls born color-blind by 50%, boys born color-blind by 50%. From this marriage who is color blind lowering properties of genes from mother and father. Because genes contain maternal and paternal genes are color blind, the one who produced nothing is normal or a carrier, both girls and boys 100% color blind.
Among men, there is no carrier or carrier properties due because of these abnormalities carried by the X chromosome 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. A woman found the term 'hereditary' This shows there is one X chromosome that carries the properties of color blindness. Women with a nature, is physically not experience abnormality color blind as normal women in general. But women with hereditary factors potentially reduce color blind to his future. If the second X chromosome contains a factor then a woman of color blindness color blindness they will suffer.
VII. CONCLUSION
1. Color blindness is a disorder caused by the inability of the eye cone cells to capture a specific color spectrum due to genetic factors. This disease is a hereditary disease caused by a recessive gene c is located on chromosome X.
2. From the data of observations made, probandus of the three groups have partial color blindness, while the other group probandus than normal.
3. Color-blind opportunity from several crosses
• Crosses between normal women (XcXc) and normal male (XcY), it will produce offspring XcXc (normal female) and XCY (normal male). With some probability the daughter born to normal by 50%, and the boys were born to normal by 50%.
• Crosses between normal women (XcXc) and men of color blindness (XcY), it will produce offspring XcXc (female carrier) and XCY (normal male). With some probability the normal carrier daughter was born by 50%, and the boys were born to normal by 50%.
• Crosses between female carriers (XcXc) and normal male (XcY), it will produce offspring XcXc (normal), XcY (normal), XCXc (carrier), XcY (color blind). With some probability the child was born normally at 50%, normal carrier daughter was born by 25% and boys born color-blind by 25%.
• Crosses between female carriers (XcXc) and men of color blindness (XcY), it will produce offspring XcXc (carrier), XcY (normal), XcXc (color blindness), XcY (color blind). With some probability to normal boys by 25%, normal carrier daughter was born by 25%, boys born color-blind by 25%, and girls are born color-blind by 25%.
• Crosses between women of color blindness (XcXc) and normal male (XcY), it will produce offspring XcXc (carrier), XcY (color blind). With some probability the normal carrier daughter was born by 50%, boys born color-blind by 50%.
• Crosses between women of color blindness (XcXc) and men of color blindness (XcY), it will produce offspring XcXc (color blind), and XcY (color blindness). With some probability of girls born color-blind by 50%, boys born color-blind by 50%.
• Crosses between normal women (XcXc) and men of color blindness (XcY), it will produce offspring XcXc (female carrier) and XCY (normal male). With some probability the normal carrier daughter was born by 50%, and the boys were born to normal by 50%.
• Crosses between female carriers (XcXc) and normal male (XcY), it will produce offspring XcXc (normal), XcY (normal), XCXc (carrier), XcY (color blind). With some probability the child was born normally at 50%, normal carrier daughter was born by 25% and boys born color-blind by 25%.
• Crosses between female carriers (XcXc) and men of color blindness (XcY), it will produce offspring XcXc (carrier), XcY (normal), XcXc (color blindness), XcY (color blind). With some probability to normal boys by 25%, normal carrier daughter was born by 25%, boys born color-blind by 25%, and girls are born color-blind by 25%.
• Crosses between women of color blindness (XcXc) and normal male (XcY), it will produce offspring XcXc (carrier), XcY (color blind). With some probability the normal carrier daughter was born by 50%, boys born color-blind by 50%.
• Crosses between women of color blindness (XcXc) and men of color blindness (XcY), it will produce offspring XcXc (color blind), and XcY (color blindness). With some probability of girls born color-blind by 50%, boys born color-blind by 50%.
4. Among men, there is no carrier or carrier properties due because of these abnormalities carried by the X chromosome This means that the Y chromosome does not carry the color blind factor.
BIBLIOGRAPHY
Agatha. 2010. Buta warna. http://agathariyadi.wordpress.com/page/12/{8 November 2011]
Campbell, Neil A., Jane B. Reece & Lawrence G. Mitchell. 2002. Biologi Edisi Kelima Jilid 3. Jakarta: Penerbit Erlangga.
Suryo. 1996. Genetika. Yogyakarta: UGM Press.
Tim Dosen Genetika. 2011.Petunjuk Praktikum Genetika. Jember: University Press
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