GENBIO AMELIORATE PART 2

Question 1

Metabolic disease that is caused by a buildup phenylalanine in the body due to an enzyme deficiency particularly the hepatic enzyme Phenylalanine Hydroxylase (PAH)

Answer 1

Phenylketonuria (PKU)

Question 2

Fatal genetic disorder that most commonly occurs in children, resulting in progressive destruction of the nervous system.

Answer 2

Tay-Sachs Disease (TSD)

Question 3

Caused by an inherited defect in a single gene. A person needs only one defective gene copy to develop this disorder.

Isn’t expressed until midlife, so affected

Answer 3

autosomal Dominant Disorder (Huntington’s Disease)

Question 4

● Often used to determine the mode of inheritance of genetic diseases (cannot predict sexually transmitted diseases)

Answer 4

Pedigree

Question 5

(2 expressed)
○ PKU, Tay-Sachs, albinism

Answer 5

● Autosomal recessive

Question 6

○ Huntington’s Disease

Answer 6

Autosomal dominant (1 or 2 expressed)

Question 7

– this allele is found on only the X chromosome (1 for females, 2 for males)

• Color-blindness, hemophilia

Answer 7

X-linked recessive

Question 8

– this allele is found on X chromosomes (1 expressed)
○ Hypophosphatemia

Answer 8

X-linked dominant

Question 9

– this allele is found on the Y
chromosome
○ Webbed toes

Answer 9

Y-linked

Question 10

○ Trait is rare in the pedigree
○ Trait often skips generation
○ Trait affects males and
females equally

Answer 10

Autosomal Recessive Pedigree

Question 11

○ Trait is common in the
pedigree
○ Trait is found in every
generation
○ 50% - 100% chance of
transmission

Answer 11

Autosomal Dominant Pedigree

Question 12

○ Trait is rare in pedigree
○ Trait skips generations
○ Affected fathers do not pass
to their sons
○ Males are more often
affected than females
○ Females are carriers

Answer 12

X-linked recessive pedigrees

Question 13

○ Trait is common in pedigree
○ Affected fathers pass to all of their daughters
○ Males and females are
equally likely to be affected

Answer 13

X-linked dominant pedigrees

Question 14

○ Traits on the Y chromosome are only found in males, never in females.
○ The father’s traits are passed to all sons.

Answer 14

Y-Linked Inheritance

Question 15

● The technical
biological knowledge for human purposes

Answer 15

biotechnology

Question 16

● Manipulation of the genetic makeup of cells or whole organisms

Answer 16

Genetic Engineering

Question 17

● Applied science that applications of cutting, splicing, and creating DNA

Answer 17

Recombination DNA technology

Question 18

● Can be used to rapidly amplify DNA sequence to obtain millions of copies
○ DNA to be amplified, primers, heat-stable DNA polymerase
are combined

Answer 18

POLYMERASE CHAIN REACTION

Question 19

steps of POLYMERASE CHAIN REACTION

Answer 19

denaturation
annealing
extension
cooling repeat cycle

Question 20

○ Heating the reaction strongly
■ 96C for 1 minute

Answer 20

Denaturation

Question 21

○ Cooling the reaction to 55 to -65 for 45 sec
○ Presence of artificial nucleotides

Answer 21

annealing

Question 22

○ Raising temp to 72 C for 2 mins so Taq polymerase extends the primers, synthesizing new strands of DNA

○ Occurs in 5’ to 3’
○ Per min, 1000 base pairs is
created

Answer 22

Extension

Question 23

○ Lower to 5C
○ Ensure proper bonding

Answer 23

Cooling Repeat Cycle

Question 24

● Creates an electrical field that causes the DNA strands to migrate through the gel.

Answer 24

GEL ELECTROPHORESIS

Question 25

Separation and analysis of macromolecules
○ According to size and charge
○ Small strand will arrive first

Answer 25

GEL ELECTROPHORESIS

Question 26

t or f

DNA is positive so it is in the negative side

Answer 26

FALSE

DNA is negative so it is in the
positive side

Question 27

IN GEL ELECTROPHORESIS Small strand will arrive first

T OR F

Answer 27

T

Question 28

● A well-defined “line” of DNA on a gel

Answer 28

Band

Question 29

● Determine the order of the nucleotide

Answer 29

DNA SEQUENCING

Question 30

t or f

Prior to sequencing, DNA must be amplified to get adequate amount

Answer 30

true

Question 31

● Often used to identify crime scenes
● DNA is cut with restriction enzymes
● Finger prints varies from one indiv to
another

Answer 31

DNA FINGERPRINTING

Question 32

● Cutting, slicing, and copying DNA

Answer 32

Recombinant DNA

Question 33

○ Cut DNA at specific sites
○ Often palindromes

Answer 33

Restriction enzymes

Question 34

○ Join fragments of DNA

Answer 34

DNA ligases

Question 35

○ Small circular pieces of DNA to
which desired genes can be added and inserted into bacteria for amplification

Answer 35

Plasmids