Review Slides- 10/1/21

Question 1

Amniocentesis

Answer 1

-15+ weeks
1/300-1/500 risk for miscarriage
detects ~98% of open neural tube defects

Question 2

Types of testing on CVS and Amniocentesis (4)

Answer 2

• FISH and karyotype
• Microarray testing
• Alpha-fetoprotein on amniocentesis
• Targeted testing for single gene (family specific)

Question 3

Deletion

Answer 3

he or more DNA pair lost

Question 4

Insertion

Answer 4

One or more DNA pair added

Question 5

Frameshift mutations

Answer 5

When there is a deletion or insertion in a gene that isn’t a multiple of 3

Question 6

Null mutation

Answer 6

Loss of function, but the normal allele enough to compensate. Classic autosomal recessive

Question 7

Haploinsufficiency

Answer 7

Homozygotes more serious than heterozygotes, dominant pattern

Question 8

Dominant negative

Answer 8

One abnormal allele is enough to show trait, osteogenesis imperfecta

Question 9

Short tandem repeat polymorphism (STRP) testing

Answer 9

-Short tandem reacts are highly variable
-analysis of a small number of STRP’s allows for accurate testing
Used for:
-forensics
-Paterity/maternity
-Twin

Question 10

Pathogenicity locus

Answer 10

Region of genes that code for pathogenic protein

Question 11

Transcription unit

Answer 11

A sequence of DNA bases that is transcribed to give a single discrete complementary RNA

Question 12

Oberon

Answer 12

When multiple genes are on the same transcription unit

Question 13

Holin

Answer 13

A protein in C diff that allows the toxin to exit the cell

Question 14

Promotor site

Answer 14

A special region of DNA where RNA polymerase binds for the purpose of initiating transcription

Question 15

Termination site

Answer 15

A site within DNA or RNA product, at which RNA synthesis stops

Question 16

Subunits of DNA dependent RNA polymerase

Answer 16

Beta, Beta’, Alpha, sigma

Question 17

Rifamycin

Answer 17

blocks elongation, used for TB

Question 18

Lipiarmycins

Answer 18

Blocks initiation, used for C. Diff, extremely specific to C. Diff

Question 19

Two forms of RNA polymerase

Answer 19

holoenzyme and core enzyme, holoenzyme includes sigma and core enzyme does not

Question 20

Role of sigma subunit (3)

Answer 20

• Causes stable binding at promotor
• Reduces binding at non-promotor sites
• Removal of sigma allows escape from the promotor

Question 21

Factor independent termination

Answer 21

Factor termination site that is encoded in the DN Asequence, dryad symmetry

Question 22

Factor dependent termination

Answer 22

Rho factor binds to a site in the RNA and causes the poly to stop and release

Question 23

Generic transcription regulation

Answer 23

• Positive regulators bind upstream of the promotor, causing higher affinity binding
• Negative regulators overlap with promotor, preventing binding

Question 24

TcdR sigma

Answer 24

It is a sigma factor that promotes the expression of many Tcd operons

Question 25

CodY-Ile

Answer 25

Repress or of the Tcd genes when bound to Ile, inactive when not

Question 26

TcdC

Answer 26

Anti-sigma factor that inactivates the sigma protein and prevents synthesis