1. Genome
    The complete set of human genes
  2. How amny pairs and individual chromosomes?
    • 23 pairs
    • 46 individual
  3. Define Locus?
    The location for a gene
  4. DNA
    Deoxyribonucleic acid
    Genetic material required for cell division and growth
  5. Name he 4 bases for DNA?
    • Adenine (A)
    • Guanine (G)
    • Cytosine (C)
    • Thymine (T)
  6. Name the 2 bases that are Pyrimidines?
    • Cytosine (C)
    • Thymine (T)
  7. Name the 2 bases that are Purines?
    • Adenine (A)
    • Guanine (G)
  8. What the 4 bases in DNA become when 5 sided sugar is added to them?
  9. What a nucleoside becomes when a phosphate is attached to it?
  10. Name the base pairs?
    • Adenine and Thymine
    • Guanine and Cytosine
  11. Define Mitosis?
    cell division
  12. Name the 4 phases of cell cycle?
    • Go
    • G1
    • S
    • Gm
    • M
  13. Where is the centromere?
    Pinched in area of chromosone
  14. Where is the Chromatid?
    Each left and right half of the chromosone
  15. Where is the P arm?
    • The arms above the centromere
    • the short arms
  16. Where is the q arm?
    The lower arms below the centromere
  17. The Teleomer is where?
    The very tips of the chromosone
  18. Describe what Karyotype?
    an organized arrangement of all the chromosomes within one cell during the metaphase section of mitosis
  19. Euploid?
    The correct number of chromosome pairs for a species
  20. Define Autosomes?
    The 22 pair of chromosomes that do not code for sexual differences
  21. Sex Chromosomes?
    The 1 pair of chromosomes that code for sexual differences
  22. What is a gene?
    A specific segment of DNA that sontains the code for a specific protein
  23. Allele?
    A variation of a gene
  24. Define Phenotype?
    Any gene for a person that can be observed
  25. Genotype?
    • What the actual alleles are for that trait
    • not just what can be seen
  26. What is a Mutation?
    DNA changes that are inherited
  27. Where do mutations occur?
    • Somatic
    • Germline
  28. Define point mutation?
    The substitution of one base for another
  29. Define Frameshift mutation?
    When a whole base or group of bases are added or deleted
  30. What is a Pedigree?
    A family tree
  31. Define Penetrance?
    How often or well a gene is expressed when it is present
  32. Define Expressivity?
    The degree of expression a person has when a dominant gene is present
  33. Autosomal Dominant Pattern of inheritance?
    • Appears in every generation
    • Risk for child is 50% during pregnancy
    • Found = in males and females
    • Unaffected people do not have affected children
  34. Examples of AD?
    • Breast cancer
    • Huntingtons disease
    • DM2
    • Malignant hyperthermia
  35. Autosomal recessive pattern of inheritance?
    • Both allele must be present to be expressed
    • Skip a generation
    • Found = in males and females
    • Children of 2 affteced parents will always be affected
    • Only in siblings not in parents
  36. Examples of AR?
    • Albinism
    • Cystic fibrosis
    • Sickle cell anemia
  37. Sex-linked recessive pattern of inheritance?
    • Trait much higher in males than female
    • Cannot be passed father to sons
    • Transmits from father to all daughters who will be carriers
    • Female carriers have a 50% risk of passing gene to their children
  38. Examples of x-linked recessive?
    • Hemophilia
    • Red green color blindness
  39. Examples of complex disorders?
    • AD
    • Bipolar
    • PD
    • Schizophrenia
    • Hypertension
    • RA
  40. Define Carrier?
    A person who has one mutated allele for a recessive genetic disorder
Card Set
Medical surgical