10

Question 1

Sickle cell disease (SCD)

Answer 1

alson known as sickle cell anemia

first known inherited disorder resulting from protein defect

a potentially fatal autosomal reessive disorder caused by an abnormality in the structure and function of hemoglobin (Hb)

Question 2

hemoglobin structure

Answer 2

tetramer containing two protein chains encoded by two different globin genes encoded on separate chromosomes
alpha globin and beta globin

Question 3

Beta S alleles

Answer 3

differ from the Beta A allele in that they produce disfunctional beta globin proteins. two of these results in SCD

less stable then Beta A alleles and when oxygen concentration is low, they collapse.

Question 4

origin of migration

Answer 4

in each gel electrophoresis tray, when the gel is being made, there is a comb present in the tray that stays in until the gel solidifies. The comb is then removed, leaving several wells behind in the gel on the negative end. Each sample for the gel is put in one of these wells, thus they serve as the origin of migration for eah sample

Question 5

agarose

Answer 5

one of the most commonly used gels in electrophoresis

a form of cellulose

Question 6

polyacramide

Answer 6

a synthetic materia made by a polymerization rxn.

one of the most commonly used materials to form electrophoresis gels

Question 7

what three parameters of molecular structure determine the rate of movement through electrophoresis gel?

Answer 7

Molecular Weight

Molecular Charge

Molecular shape (molecular conformation)
-more condensed=faster

Question 8

electrophoretic mobility

Answer 8

a term describing either the rate of a molecule’s electrophoretic migration or its final position of the protein in the gel

Question 9

Peptide fingerprint analysis

Answer 9

1) The protein is broken into many fragments by chemical treatment
2) the protein fragments are subjected to electrophoresis to seperate the fragments in one direction on a gel
3) the protein fragments are seperated in a second dimension, perpendicular to the first, by chromatography.
4) at the end of these two seperations, the locations of the protein “spots” serve as a kind of “fingerprint” of the protein

Question 10

chromatograpphy

Answer 10

uses a solvent to carry fragments with different amino acid composition to different final positions.

Question 11

single nucleotide polymorphism (SNP)

Answer 11

the most common type of DNA sequence difference between organisms of the same species.

consists of differences of single nucleotide base pairs.

Question 12

restriction endonucleases (restriction enzymes)

Answer 12

a special class of DNA-digesting enzymes that act only on specific DNA sequences.

Question 13

restriction sequence

Answer 13

the precise DNA sequence that a restriction endonuclease recognizes and cuts

in 5’ to 3’ direction

Question 14

restriction fragments length polymorphism (RFLP)

Answer 14

The number of restriction fragments produced by a given restriction enzyme is characteristic for a given sequence of DNA.

RFLP is the inherited variability in the number or the length (in base pairs) of restriction fragments.

Question 15

sticky ends

Answer 15

some DNA fragments are cut by certain restriction enzymes with ends short, single stranded ends. The ends are called sticky ends

Question 16

blunt ends

Answer 16

Ends of DNA fragments that are double stranded

Question 17

ethidium bromide (EtBr)

Answer 17

Stains DNA in electrophoresis gel

Question 18

blotting

Answer 18

a general name for the transfer of nucleic acids or proteins from an electrophoresis gel to a membrane that can withstand rigorous treatment and analysis

Question 19

Southern blotting

Answer 19

blotting for DNA

Question 20

northern blotting

Answer 20

blotting for mRNA

Question 21

western blotting

Answer 21

blotting for proteins

Question 22

molecular probes

Answer 22

antibodies or single-stranded nucleic acids that specifically bind to target molecules, thus making possible the identification of a given protein or specific DNA or RNA sequence.

Question 23

hybridization

Answer 23

the pairing of complementary nucleic acid strands of a molecular probe and a target nucleic acid sequence.

Question 24

heterozygous advantage

Answer 24

individuals with betaA betaS heterozygous genotypes are given a survival and reproductive edge in populations where malaria is present

Thus that allele provides a heterozygous example

Question 25

equilibrium frequency

Answer 25

the gain and loss of a certain allele is equal, creating an equilibrium of its frequency in a population. (i.e. betaS in populations dealing with malaria, where homozygous betaA gets screwed by malaria and homozygous betaS gets screwed by sickle cell disease, but heterozygous betaA betaS has a solid resistance to malaria and doesnt get severe anemia)

Question 26

balanced polymorphism

Answer 26

the term used to describe situations where an equilibrium frequency is reached

because the loss of an allele because of selection of one of its phenotypes is balanced by natural selection in favor of the allele for another phenotype.