Genetics

Front 1

Give the mechanism of capping of Eukaryotic mRNA

Back 1

1) 5' end of mRNA gets a 7-methyl-guanosine cap by first removing a phosphate group from the 5' end of nascent RNA,
2) forms a 5'-5' (unusual) triphosphate linkage via Guanylyl Transmethyl transferase,
3) Guanylyl 7-methyl-transferase methylates it. Done

Front 2

Function of 7-methyl-guanosine cap on the 5' end of eukaryotic mRNA

Back 2

1) Regulates export of mRNA out of the nucleus,
2) facilitates efficient translation by mRNA into protein
3) Cap slows degradation of mRNA by RNAse, which will degrade any RNA without the cap because it doesn't recognize it as "self" (thus increases 1/2-life of mRNA)

Front 3

Functions of 3' polyadenylation at tail of mRNA

Back 3

1) PABP binds to tracts to aid in transcription termination
2) Protects mRNA from ribonuclease attack
3) Longer polyA tail means longer 1/2-life

Front 4

Are the 5' UTR "leader sequence" and 3' UTR "trailor sequence" translated?

Back 4

NO! translation starts AFTER the 5' UTR leader sequence and stops BEFORE the 3' UTR trailer sequence

Front 5

Stop codons

Back 5

UGA, UAG, UAA

Front 6

Give an example of a mechanism for RNA editing and the result

Back 6

Apolipoprotein B is edited in the human liver where mRNA is translated yielding a 4536 amino acid protein, called ApoB100, while in the intestine, the same mRNA is edited with one replacement of a U for a C, forming UAA (STOP) from CAA (glutamine) thus the new protein will be truncated (2152 amino acids) called APOB48 (48% of ApoB100)

Front 7

RNA Pol 1

Back 7

rRNA genes in nucleoli - encode protein synthesis machinery

Front 8

RNA Pol 2

Back 8

mRNA - protein coding genes, inhibited by alpha amanatin (deathcap mushroom)

Front 9

RNA Pol 3

Back 9

tRNA and snRNA (adaptor molecule between Nucleic Acid and peptide)

Front 10

For PCR/ASO, give the antiparallel strand primer that could be used for this sequence: 5'--AGTGTAC--3'

Back 10

5'--GTACACT--3'
1) first find complementary seq
2) reverse direction to write it 5' to 3'

Front 11

What is the basis of DNA fingerprinting?

Back 11

Short tandem repeat (STR) variations - this is based on the principle of VNTRs (variable number of tandem repeats) of non-coding DNA

Front 12

In extragenic (non-coding) DNA, there are 3 subgroups of tandem repeats. What are they?

Back 12

Microsatellites, minisatellites, satellites

Front 13

Microsatellites

Back 13

DNA fingerprinting - very short sequences repeated many times (ex: 2 nucleotides, CACACA) - Huntington's is an example of a triplet expansion disorder

Front 14

Minisatellites

Back 14

Telomeric - short (6 nucleotides) repeat found at telomeres, added by telomerase after replication

Front 15

Satellites

Back 15

repeated sequences of DNA found around centromeres of chromosomes

Front 16

Barr Body

Back 16

X-inactivation - one of the x-chromosomes is condensed forming the barr body (heterochromatin) - this is fixed so future generations will be same, this works via methylation

Front 17

Myotonic dystrophy gene

Back 17

DMPK

Front 18

DMPK

Back 18

Myotonic dystrophy

Front 19

FGFR3

Back 19

Achondroplasia

Front 20

Achondroplasia

Back 20

FGFR3

Front 21

Neurofibromatosis

Back 21

NF1 (neurofibromin)

Front 22

NF1

Back 22

Neurofibromatosis

Front 23

Hemochromatosis

Back 23

C282Y

Front 24

C282Y

Back 24

Hemochromatosis

Front 25

HBSC

Back 25

Beta-Globin gene

Front 26

Repeat sequence in fragile x

Back 26

CGG

Front 27

repeat sequence in friedlich ataxia

Back 27

GAA

Front 28

Huntingtondisease

Back 28

CAG

Front 29

Myotonic dystrophy

Back 29

CTG

Front 30

name all autosomal dominant on list

Back 30

Familial hypercholesterolemia, huntington's myotonic dystrophy, marfan's, osteogenesis, achondroplasia, neurofibromatosis, acute intermittent porphyria (AIP)

Hint 30

Families hunting mice may oust a nearby agouti

Front 31

name all autosomal recessive on list

Back 31

Cystic fibrosis, sickle cell, phenylketonuria, tay sachs, congenital deafness, hemochromatosis

Hint 31

Cindy's sister Phoebe takes candy hamsters

Front 32

X-linked recessive

Back 32

Duchenne, becker, G6PD, lesch nyhan, red-green color blindness

Front 33

What is silenced what is expressed in prader willi syndrome

Back 33

paternal 15q11-13 (SNRPN) is deleted, mom's UBE3A is active

Front 34

15q11-13 (SNRPN) methylated - what's the disease and who's allele is this?

Back 34

Prader Willi, father silenced (methylated) and mom is expressed (UBE3A)

Front 35

Angelman - what is silenced what is expressed

Back 35

Maternal 15q11-13 is silenced (deletion of UBE3A) and paternal SNRPN is expressed

Front 36

UBE3A gene methylated - what's the disease and who's allele is this?

Back 36

Angelman - mom's allele is silenced and father's is expressed (SNRPN)