Magnet Biology Genetic Mutations and Disorders

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Magnet Biology Genetic Mutations and Disorders
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2012-10-30 21:56:42
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  1. What is a mutation?
    A change in the DNA sequence 
  2. What happens in chromosomal mutation? 
    Part of a chromosome may be lost, added, or moved to another chromosome. It is usually not passed on because zygote dies. 
  3. Explain crossing over
    occurs when chromosomes exchange genes. When two chromosomes overlap. Some genes cross over and switch places. 
  4. What does nondisjunction fail to do?
    Properly seperate a chromosome pair.
  5. What are the two types of nondisjunctions and what happens with each type? Give an example of each. 
    Monosomy: When one gamete has one less chromosome the it should. When it joins with another gamete the zygote would have only 45 chromosomes. 

    Trisomy: When gamete has one more chromosome than it should. When it joins with another gamete the zygote would have 47 chromosomes.

    • example of Monosomy: Turner syndrome
    • example of Trisomy: Down syndrome 
  6. What is a pedigree? 
    A graphic representation of a family tree
  7. What is a test cross?
    A test cross is a way of determining genotype by crossing an individual of unknown genotype with homozygous recessive. 
  8. When are test crosses used?
    breeding plants and animals if a certain offspring is needed
  9. What is used in ultrasound's and what is it used to detecet?
    • Sound waves; Used to detect abnormalities of limbs,organs, etc. 
    • Another name for ultrasound is sonogram
  10. How is an amniocentesis performed? What happens to the collected cells?
    Fluid surrounding the fetus is drowned our by a needle; fetal cells are collected and grown in a lab
  11. How is a chorion villi sampling performed? 
    A sample of the chorion (membrane surrounding the fetus) is taken, chemical tests and karyotyping are prepared. 
  12. What happens in a point mutation?
    One nucleotide is subsituted for another.
  13. What happens in a frameshift mutation?
    Shifts the "reading" frame of the genetic message by inserting or deleting a nucleotide.
  14. Describe Down Syndrome
    • Also called Trisomy 21 due to presence of extra #21 chromosome
    • Mental retardation,distinct phenotype, upward slant to eyes
  15. Describe Klinefelters
    • Has 47 chromosomes, XXY- affects males only
    • Mild learning disability, abnormally tall, development of breasts, infertile
    • Treated with testosterone injections
  16. Describe Turners syndrome
    • Has 45 chromosomes, X-affects females only
    • normal phenotype, normal intelligence, infertile, short stature
    • treated with estrogen injections
  17. Describe Hemophilia
    • Sex linked disorder, rare in females
    • failure of blood to clot 
    • injections of clotting factors to stop bleeding disorders
  18. Describe Sickle Cell Anemia
    • Mutation in blood causing "sickled" shape to red blood cells
    • most common in African Americans
    • pain associated with blocked vessels 
    • common where mosquito-borne malaria is present
  19. Describe Phenylketonuria (PKU)
    • Mutation disrupts functions of enzyme leading to high phenylalanine levels in brain
    • metal retardation, epilepsy, look normal
    • common in Caucasian
    • need low protien diet
  20. Describe Huntingtons disease 
    • progressive loss of muscle control
    • loss of mental function around one's late 30's
  21. What is Huntingtons disease?

    (sex-linked genetic, dominant autosomal, recessive autosomal, chromosomal nondisjunction)
    Dominant Autosomal
  22. What is Turner's Syndrome?
    (sex-linked genetic, dominant autosomal, recessive autosomal, chromosomal nondisjunction?)
    Chromosomal Nondisjunction
  23. What is Colorblindness? 
    (sex-linked genetic, dominant autosomal, recessive autosomal, chromosomal nondisjunction?)
    Sex-linked
  24. What is PKU?
    (sex-linked genetic, dominant autosomal, recessive autosomal, chromosomal nondisjunction?)
    Recessive autosomal
  25. What is hemophilia?
    (sex-linked genetic, dominant autosomal, recessive autosomal, chromosomal nondisjunction?)
    Sex linked
  26. What is Klinefelters syndrome?
    (sex-linked genetic, dominant autosomal, recessive autosomal, chromosomal nondisjunction?)
    Chromosomal nondisjunction
  27. What is Down syndrome?
    (sex-linked genetic, dominant autosomal, recessive autosomal, chromosomal nondisjunction?)
    Chromosomal Nondisjunction

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