Gen. exam 3

• Base substitution-one base subs for another
• -missence mutation: new amino acid (protein may or may not work)
• -silent mutation: (protein product will work)
• -nonsense mutation: "stop codon" (protein product does not work)

Frame Shift-add (or delete) a nucleotide (protein product does not work)

• Any heritable change in the DNA
• -inherited from parent (from cell to daughter cell)
• site is in somatic cell
• *NOT inherited by offspring

Human Growth Hormone

• Tips of double helix
• "biological Clocks"

• repeated sequences of 6 base pairs
• GGATTT}GGGATT{GGGATT
• CCTAAA}CCCTAA{CCCTAA

• -Colon Cancer
• -Sickle cell disease "single base subst."
• -collagen disorders "glue"
• Aortic Aneurism
• Osteogenesis imperfecta type 1

• -Different apperance
• -loss of cell cycle control
• -heritability
• -transplantability
• -dedifferentiation
• -loss of contact inhibition
• -ability to induce local blood vessel formation
• -invasiveness
• -increased mutation rate
• -ability to spread

• Something known to cause cancer in a lab animal
• 1. test to see it if changes DNA
• 2. if it is, then test to see if it's a carcinogen
• (hard/expensive to identify)

• A substance that causes a DNA base change
• 1. chemical (cigarette smoke)
• 2. radiation (sunlight rays)
• 3. infectious agents (viruses)
• site=germ cell (eggs & sperm)
• somatic cell-->possible cancer

Development of Cancer

Initiation-gene affecting DNA repair

Promotion-Causes expression of recessive allele (cancer begins)

Progression-Spread of Cancer from one site to another (Cancer grows)

proteins on outside of cell

identify your cells as being part of you

Identified as possibly harmful

immune system identifies presence of foreign antigens and destroys it

Proteins produced by certain while blood cells which attach to foreign antigens and immobilize the foreign cells

other white blood cells (Macrophage) come in and destroy the foreign cells

white blood cell that consumes foreign antigens

• Collection of antigens
• controlled by single gene
• EX: MN blood group, ABO blood group, Rh blood group

2 alleles

3 geneotypes

CODOMINANCE

• 3 alleles
• i^A = A antigen
• i^B = B antigen
• i = No antigen

(I^A=I^B)>i

#Genotypes= 3(3+1)/2 =6

Humans naturally possess antibodies for ABO blood group

each antibody is specific for a foreign antigen

• O= Universal Donor
• AB= Universal Recipient

Named after Rhesus monkey

• Rh+ = presence of Antigen
• Rh- = absence of Antigen
• RR = Rh+
• Rr = Rh+
• rr = Rh-

• Restriction- uses restriction enzymes to cut out certain segments of DNA
• Fragment-short sequence repeats
• Length-Compares fragment lengths
• Polymorphism- "many forms" indicating the fragments cut into different sizes