Color Blind Labwork

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_vision
  • 7/30/2019 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_blindness
  • 7/30/2019 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_blindness
  • 7/30/2019 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.JPG
  • 7/30/2019 Color Blind Labwork

    18/18

    for correction can call me!