Exam 1

Question 1

Alkaptonuria is a disorder in which the body cannot process phenylalanine and tyrosine, this is caused by a mutation in HGD gene for what enzyme?

Answer 1

Homogenisate 1,2-dioxygenase

Question 2

What is responsible for the strong negative charge of nucleic acids?

Answer 2

The phosphate group

Question 3

As the parental double helix divides into two double helix DNA with one parental strand in each of the double helices, what is this known as?

Answer 3

Semiconservative replication of DNA

Question 4

What DNA is very long and has multiple origins of replication?

Answer 4

Eukaryotic DNA

Question 5

Helix destabilizing proteins, keeps the two DNA strands separate and protects the DNA from Nucleases that cleave single stranded DNA, what is another name for Helix destabilizing proteins…

Answer 5

Single stranded DNA binding proteins (SSB)

Question 6

Pictures of kids…

Answer 6

The fat kid is the answer, something to do with Prader-willi syndrome or something

Question 7

DNA polymerase III has what type of polymerase activity?

Answer 7

5’ –> 3’

Question 8

What type of activity is used to excise mismatched nucleotides during proofreading of newly synthesized DNA?

Answer 8

3’ –> 5’ exonuclease activity

Question 9

DNA Polymerase I uses what nuclease activity for RNA primers (replacing RNA with DNA), it synthesizes the new DNA and then proofreads the new chain using what exonuclease activity?

Answer 9

5’ –> 3’

3’ –> 5’

Question 10

What is a multisubunit enzyme used during eukaryotic DNA replication to initiate strand synthesis on the leading strand and beginning of okazaki fragments of the lagging strand?

Answer 10

Pol Alpha

Question 11

What does not require a primer and has no known endonucleases or exonuclease activity, therefore has no ability to repair mismatch…

Answer 11

RNA polymerase

Question 12

What does require a primer and has endonucleases and exonuclease activity?

Answer 12

DNA polymerase

Question 13

What is an enzyme that produces the small RNA’s including tRNAs and small ribosomal RNA?

Answer 13

RNA Polymerase III

Question 14

When genetic code is redundant where some amino acids have more than one triplet coding for it?

Answer 14

Degeneracy

Question 15

Huntington disease…

Answer 15

Autosomal Dominant

Question 16

Galactosemia…

Answer 16

Autosomal Recessive

Question 17

KNOW autosomal dominant inheritance pedigree works…

Answer 17

Normal parent with Heterozygote –> 50% probability that child will get either affected or normal gene

Question 18

Causation of the same disease phenotype by mutations at different loci

Answer 18

Locus heterogeneity

Question 19

What is the differential activation of genes, depending on the parent from which they are inherited. EX. mutation on long arm of chromosome 15 from father = prader-willi syndrome, from mother = angleman syndrome

Answer 19

Genomic imprinting

Question 20

There was a long codon on the test, had to match it up with other codons…

Answer 20

The codon on the test starts with U. Make sure to know how start and stop codons work!

Question 21

What enzyme is defective when cancer keeps growing….

Answer 21

Telomerase

Question 22

RNA polymerase III

Answer 22

tRNA

Question 23

This trisomy produces Patau Syndrome…

Answer 23

Trisomy 13

Question 24

Friedreich Ataxia…

Answer 24

(GAA triplet) (intron) - site of expansion and affected sequence caused by nucleotide repeat mutation = AUTOSOMAL RECESSIVE

Question 25

What trisomy has an incidence of 1 in 800 live births?

Answer 25

Trisomy 21

Question 26

Picture of a down syndrome child…

Answer 26

Trisomy 21

Question 27

What trisomy produces Edward syndrome and is the most common chromosome abnormality among still-borns…

Answer 27

Trisomy 18

Question 28

What trisomy is associated with Klinefelter Syndrome?

Answer 28

Trisomy XXY (Karyotype 47)

Question 29

Sometimes a chromosome divides along the axis perpendicular to its usual axis of division resulting in a chromosome that has two copies of one arm and no copies of the other… What is this called?

Answer 29

Isochromosomes

Question 30

Isochromosomes split in what way?

Answer 30

Horizontally, not vertically

Question 31

Most isochromosomes observed at live births involve the X chromosome and usually have features of what genetic disorder?

Answer 31

Turner syndrome

Question 32

Difference between DNA and RNA?

Answer 32

RNA has no exonucleases or endonucleases

Question 33

What is the most common inherited cause of mental retardation - the X exhibits breaks and gaps near the tip of the long arm. (Down syndrome is a chromosomal abnormality and NOT an inherited GENE mutation)

Answer 33

Fragile X Syndrome

Question 34

When permutations tend to become larger in successive generations is known as what?

Answer 34

Sherman paradox

Question 35

Kearns-Sayer syndrome is what?

Answer 35

Mitochondrial inheritance disease

Question 36

Familial Hypercholesterolemia is what?

Answer 36

Autosomal dominant

Question 37

Hemophilia A….

Answer 37

X-linked recessive

Question 38

What results in La Von Gierke Disease (GSD I) in the Liver?

Answer 38

Glucose-6-phosphatase defect

Question 39

What is the most prevalent amino acid metabolism disorder?

Answer 39

Phenylketonuria (PKU)

Question 40

What disease results from deficiency in Branched-Chain a-ketoacid dehydrogenase…

Answer 40

Maple syrup urine disease

Question 41

Xeroderma pigmentosum (XP) groups A-G

Answer 41

Skin cancer, cellular UV sensitivity, neurological abnormalities