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28 Cards in this Set
- Front
- Back
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How many human chromosomes are there (total and pairs)?
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46 total, 23 pairs.
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What is a Karyotype and what is it used for.
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Picture taken of chromosomes while they are condensed. Used to look for genetic problems that may occur in children.
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Define pedigree and it's indicators.
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Family tree that follows one trait.
Circle=Female, Square=Male, No Shading=Normal, Half Shading=Carrier Full Shaded=Expresed |
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Human Genome (2 main ideas)
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Complete human genetic information. Maps out genes on the human chromosomes
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PKU (Several Facts)
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Lack of enzyme to break down phenylaine. Build up leads to mental retardation. All babies are tested for this on the 12th chromosome. Treatment= Do not consume.
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Tay Sachs (Several Ideas)
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Common among Jewish disent. Nervous system breaks down, causes death in first few years of life. No treatment. Parents can be tested for the allele
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Cystic Fibrosis (Several Ideas)
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Common among Northern European disent. Affects chromosome 7. Defect in CL- protein channels that causes thick mucas.
Treatment= Nebulizer or palpatation. |
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Sickle Cell Anemia (Several Ideas)
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Prevelent among African Americans. Affects Hemoglobin chain. Causes red blood cells to change shape and carry less oxygen as well as damage to capillares. Affects heart, spleen and brain. Caused by single point mutation. Heterozygous advantage.
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Huntington's Disease(Several Ideas)
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Dominant genetic disorder. Causes loss of muscle control and mental disease. Death. Symptoms do not occur until 30's
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Achondroplasia Dwarfism
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Dominant Genetic Disorder
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Tay Sachs (Several Ideas)
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Common among Jewish disent. Nervous system breaks down, causes death in first few years of life. No treatment. Parents can be tested for the allele
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Cystic Fibrosis (Several Ideas)
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Common among Northern European disent. Affects chromosome 7. Defect in CL- protein channels that causes thick mucas.
Treatment= Nebulizer or palpatation. |
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Sickle Cell Anemia (Several Ideas)
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Prevelent among African Americans. Affects Hemoglobin chain. Causes red blood cells to change shape and carry less oxygen as well as damage to capillares. Affects heart, spleen and brain. Caused by single point mutation. Heterozygous advantage.
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Huntington's Disease(Several Ideas)
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Dominant genetic disorder. Causes loss of muscle control and mental disease. Death. Symptoms do not occur until 30's
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Achondroplasia Dwarfism
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Dominant Genetic Disorder
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What % of DNA codes for proteins?
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2%
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What are sex liked genes?
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Genes that are located on the X or Y chromosomes.
Other Facts: X-100 Genes Y-few Genes |
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What is one complication for males on sex chromosomes? What is this problem called?
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Since they only have one X chromosome there is no Heterozygous combination for the trait.
Hemizygous. |
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Hemophilia?
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Causes blood not to clot. Caused by a a recessive f trait on the x chromosomes.
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Duchenne Muscular Dystrophy?
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Progressive lost of skeletal muscle. Could be treated with gene therapy someday.
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What happens with the second X chromosomes females have.
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It is "turned off". This is called Barr Body. Done to conserve energy by not having to make things twice.
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What causes Chromosomal Disorders?
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Nondisjunctioning during meiosis. When this happens there is an incorrect number of chromosomes in the cells.
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What are the type of cells produced by nondisjunctioning?
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monsomy- short one chromosome
trisomy- one chromosome too many |
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Down Syndrome?
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Trisomy on chromosome 21. Occurs in 1 in 800 births. Causes a notable facial structure change and varying degrees of mental retardation.
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Turner's Syndrome?
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A female with only one X sex chromosome. Only major problem is they are sterile.
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Klinefeter's?
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XXY, Male with reproductive issues.
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Gene Therapy?
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Theoretically uses a virus to inject correct genes into a person who surfers from a genetic disease.
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DNA Fingerprinting?
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Cut up sections of DNA spread out through a machine. This is done by putting the negatively charged DNA near a negative charge and pushing it towards a positive charge.
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