GENBIO AMELIORATE PART 2 Flashcards
Metabolic disease that is caused by a buildup phenylalanine in the body due to an enzyme deficiency particularly the hepatic enzyme Phenylalanine Hydroxylase (PAH)
Phenylketonuria (PKU)
Fatal genetic disorder that most commonly occurs in children, resulting in progressive destruction of the nervous system.
Tay-Sachs Disease (TSD)
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
autosomal Dominant Disorder (Huntington’s Disease)
● Often used to determine the mode of inheritance of genetic diseases (cannot predict sexually transmitted diseases)
Pedigree
(2 expressed)
○ PKU, Tay-Sachs, albinism
● Autosomal recessive
○ Huntington’s Disease
Autosomal dominant (1 or 2 expressed)
– this allele is found on only the X chromosome (1 for females, 2 for males)
- Color-blindness, hemophilia
X-linked recessive
– this allele is found on X chromosomes (1 expressed)
○ Hypophosphatemia
X-linked dominant
– this allele is found on the Y
chromosome
○ Webbed toes
Y-linked
○ Trait is rare in the pedigree
○ Trait often skips generation
○ Trait affects males and
females equally
Autosomal Recessive Pedigree
○ Trait is common in the
pedigree
○ Trait is found in every
generation
○ 50% - 100% chance of
transmission
Autosomal Dominant Pedigree
○ 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
X-linked recessive pedigrees
○ Trait is common in pedigree
○ Affected fathers pass to all of their daughters
○ Males and females are
equally likely to be affected
X-linked dominant pedigrees
○ Traits on the Y chromosome are only found in males, never in females.
○ The father’s traits are passed to all sons.
Y-Linked Inheritance
● The technical
biological knowledge for human purposes
biotechnology
● Manipulation of the genetic makeup of cells or whole organisms
Genetic Engineering
● Applied science that applications of cutting, splicing, and creating DNA
Recombination DNA technology
● Can be used to rapidly amplify DNA sequence to obtain millions of copies
○ DNA to be amplified, primers, heat-stable DNA polymerase
are combined
POLYMERASE CHAIN REACTION
steps of POLYMERASE CHAIN REACTION
denaturation
annealing
extension
cooling repeat cycle
○ Heating the reaction strongly
■ 96C for 1 minute
Denaturation
○ Cooling the reaction to 55 to -65 for 45 sec
○ Presence of artificial nucleotides
annealing
○ 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
Extension
○ Lower to 5C
○ Ensure proper bonding
Cooling Repeat Cycle
● Creates an electrical field that causes the DNA strands to migrate through the gel.
GEL ELECTROPHORESIS
