Gen. exam 3
what are the 2 types of mutations? (single gene mutation)
-one base subs for another
: new amino acid (protein may or may not work)
: (protein product will work)
: "stop codon" (protein product does not work)
-add (or delete) a nucleotide (protein product does not work)
What is a mutation?
Any heritable change in the DNA
-inherited from parent (from cell to daughter cell)
site is in somatic cell
*NOT inherited by offspring
Example of a recombinant DNA pharmaceutical?
Human Growth Hormone
What are Telomeres?
Tips of double helix
repeated sequences of 6 base pairs
Examples of mutations?
-Sickle cell disease "single base subst."
-collagen disorders "glue"
Osteogenesis imperfecta type 1
What are characteristics of cancer cells?
-loss of cell cycle control
-loss of contact inhibition
-ability to induce local blood vessel formation
-increased mutation rate
-ability to spread
What is Carcinogen (most mutagens)?
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)
What is Mutagen?
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
What is Carcinogenesis?
Development of Cancer
-gene affecting DNA repair
-Causes expression of recessive allele (cancer begins)
-Spread of Cancer from one site to another (Cancer grows)
What are Antigens?
proteins on outside of cell
identify your cells as being part of you
What are Foreign Antigens?
Identified as possibly harmful
immune system identifies presence of foreign antigens and destroys it
What are Antibodies?
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
What is Macrophage?
white blood cell that consumes foreign antigens
What are Human Blood Groups?
Collection of antigens
controlled by single gene
: MN blood group, ABO blood group, Rh blood group
MN Blood group ?
ABO blood group?
= A antigen
= B antigen
i = No antigen
#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
Rh Factor (Rh blood group)
Named after Rhesus monkey
Rh+ = presence of Antigen
Rh- = absence of Antigen
RR = Rh+
Rr = Rh+
rr = Rh-
RFLP analysis- DNA fingerprinting
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
Gen. exam 3