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  1. The study of heredity. The passing of physical biochemical physiologic traits from biological parents to their children
  2. Contains chromosomes, basic units of inheritance, composed of DNA
  3. DNA subunit or nucleotide contains (3)
    1 pentose sugar (deoxyribose). 1 phosphate group. 1 nitrogenous base.
  4. Nitrogenous base has four components
    Cytosine C, thymine T, adenine A, guanine G
  5. Single carbon nitrogen ring pairs
    A adenine and T thymine
  6. Double carbon nitrogen rings called purines
    Cytosine C and Guanine G
  7. Provides the code for all body proteins
  8. Composed of one or more polypeptides
  9. Composed of 20 amino acids
  10. Sequence of three bases that directs production of amino acids
  11. Amino acid that Stops the production of protein (2)
    Termination and nonsense codons
  12. Untwisted and unzipped single strand that acts as a template or guide
    DNA strand
  13. Pairs with complementary basis (a-t and c-g), adds new nucleotides and proofs the new protein, if not correct the nucleotide is excised and replaced.
    DNA polymerase
  14. Proof reader to make sure nucleotide is replicated correctly. Most important protein
    DNA polymerase
  15. Any inherited alteration of genetic material
  16. One base pair is substituted for another, changes amino acid sequence, may or may not cause disease or problem (2 names)
    Base pair substitution or missense mutation
  17. Involves insertion or deletion or one or more base pairs to DNA Molecule
    Frameshift mutation
  18. Agents like radiation and chemicals the increase the frequency of mutations
  19. The first 22 of the 23 pairs of chromosomes in males and females. 2 members are identical / homologous (same)
  20. 23rd chromosome. Makes up male and female
    Sex chromosomes
  21. Female homologous pair
  22. Male nonhomologous pair
  23. Length and centromere location determine ordered display of chromosomes. Picture of all the chromosomes. Ordered display of chromosomes
  24. Involves a loss or gain of chromosomes resulting in specific karyotype
    Numerical chromosomal abnormalities
  25. Loss of one chromosome
  26. Gain of one chromosome
  27. Normal number of chromosomes
    Euploid cells
  28. Does not contain multiples of 23 chromosomes
    Aneuploid cells
  29. Error in homologous chromosomes
  30. Trisomy 21. Increased risk for congenital heart disease, respiratory infections, leukemia. Mental challenged, low nasal bridge, epicanthal folds, protruding tounge, flat low set ears, poor muscle tone. 1 out of 800 births. Risk increases with maternal age.
    Down syndrome
  31. Broken chromosome or loss of DNA
  32. Interchange of portion of one chromosome to another chromosome
  33. Excess of chromosome material
  34. Occurrence of 2 breaks of chromosome, followed by reinsertion of the missing fragment at its original site but inverted order
  35. Sex chromosome missing, resulting in 45 X. No Y chromosome, affects only females. Short stature, webbed neck, shield like chest, underdeveloped breast, and imperfectly developed ovaries, sterile. IQ normal, give estrogen to develop secondary sex char
    Turner syndrome
  36. Have at least 2 X and 1 Y chromosome in each cell. Results in 47, XXY male appearance. Sterile. Small testes. Breast may develop. Sparse body hair. Long limbs
    Klinefelter's syndrome
  37. Mechanisms where individual's set of paired chromosomes produces traits.
  38. First defined genetic principles by working with garden peas
    Gregory Mendel
  39. Trait caused by single gene
    Mendelian trait
  40. Each gene occupies position on chromosome known as...
  41. Different forms of genes located at the same locus on the chromosome
  42. 2 or more alleles that occur with appreciable frequency
  43. At any given locus in a _____ cell, an individual has 2 genes, one from each parent
  44. Dominant gene effects mask the recessive gene
  45. Expressed only when it is present in two copies
  46. Refers to individual genetic makeup
  47. Outward expression and is results of genes and enviroment
  48. Allele whose effects are observable is dominant Aa
  49. Recessive allele to be expressed. Must exist in the form aa
  50. Both ate heterozygote and dominant: AB blood group
  51. Individual who has a disease gene but is phenotypically normal
  52. Trait caused by autosomal dominant gene. 2 sexes exhibit the trait in equal proportions. Males and females are equally likely to transmit to offspring. No skipping of generations. If an individual has the trait then the parents must have it.
    Autosomal dominant inheritace
  53. Affected ____ individuals transmit trait to half their children. All or none may be affected. Closely approaches half.
  54. Outcomes for offspring of an unaffected father and a heterozygous unaffected carrier mother (most common)
    • 25% abnormal
    • 50% normal
    • 25% carrier
  55. Outcome for the offspring of an affected father and homozygous unaffected mother
    • 50% abnormal
    • 50% normal
  56. Outcomes for the offspring of an affected father and heterozygous unaffected carrier mother
    • 50% abnormal
    • 25% carrier
    • 25% normal
  57. Trait that can occur in only one of the sexes
    Sex limited trait
  58. Trait that occurs significantly more often in one sex than in the other
    Sex influenced trait
  59. Uses computer programs and stats for genetic counseling
  60. Child born with autosomal dominant disease and no family history. New mutation
    Autosomal dominant inheritance
  61. Percentage of individuals with specific genotype who also exhibit expected phenotype.
    Penetrance of a trait
  62. Individual who has gene for disease but do bot exhibit disease phenotype. Gene and the associated disease may be transmitted to the next generation.
    Incomplete penetrance
  63. Extent of variation in phenotype associated with particular genotype
  64. Two examples of autosomal dominant inheritance
    Marfans syndrome. Familial hypercholesterolemia.
  65. Males and females affected equally, consanguinity often present. Disease seen in siblings buy usually not in parents. 1/4 of offspring of carrier parents affected
    Autosomal recessive inheritance
  66. Keeping it in same family. Cousins.
  67. Four examples of autosomal recessive inheritance
    • Tay sachs disease
    • Phenylketonuria
    • Sickle cell disease
    • Cystic fibrosis
  68. Most sex linked traits are located on which chromosome?
  69. Female must be homozygous and seldom affected. Either both parents affected of father affected and mom is carrier
    X linked recessive
Card Set:
2015-09-16 22:41:30
test 2
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