Midterm

Question 1

what is responsible for the strong negative charge of nucleic acid

Answer 1

phosphate group

Question 2

what is semiconservative replication of DNA

Answer 2

parental double helix divides into two double helix DNA with one parental strand in each of the two double helices

Question 3

what is very long and has multiple origins of replication

Answer 3

eukaryotic DNA

Question 4

what is single stranded DNA binding proteins

Answer 4

aka: helix destabilizing proteins - keeps the two DNA strands separate and protects the DNA from nucleases that cleave single stranded DNA (picture of all kids, fat kid is answer)

Question 5

what has a 5’ -> 3’ polymerase activity

Answer 5

DNA polymerase

Question 6

what is 3’ -> 5’ exonuclease activity used to

Answer 6

exercise mismatched nucleotides during proofreading of newly synthesized DNA

Question 7

DNA polymerase uses _____ activity for RNA primers

Answer 7

5’ -> 3’ exonuclease

Question 8

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

Answer 8

pol alpha

Question 9

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

Answer 9

RNA polymerase

Question 10

enzyme that produces the small RNA including tRNA’s and small ribosomal RNA

Answer 10

RNA polymerase III

Question 11

when genetic code is redundant where some amino acids have more then one triplet coding for it

Answer 11

degeneracy

Question 12

autosomal dominant disorder

Answer 12

huntington disease

Question 13

autosomal recessive disorder

Answer 13

galactosemia

Question 14

normal parent with heterozygote, ____% probability that child will get either affected or normal gene

Answer 14

50

Question 15

causation of the same disease phenotype by mutations at different loci

Answer 15

locus heterogeneity

Question 16

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

Answer 16

genomic imprinting

Question 17

what is trismony 13

Answer 17

patau syndrome

Question 18

(GAA triplet) (intron): site of expansion and affected sequence caused by nucleotide repeat mutation - autosomal recessive

Answer 18

friedreich ataxia

Question 19

trismony 21

Answer 19

incidence 1 in 800 births, down syndrome

Question 20

trismony 18

Answer 20

produces edward syndrome - most common chromosome abnormality among still borns

Question 21

trismony XXY (kayrotype 47)

Answer 21

klinefelter syndrome

Question 22

DNA vs RNA: which has no exo’s and endo’s

Answer 22

RNA

Question 23

MC 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 inherited gene mutation)

Answer 23

fragile x syndrome

Question 24

when permutations tend to become larger in successive generations

Answer 24

sherman paradox

Question 25

mitochondrial inheritances disease

Answer 25

kearns-sayer syndrome

Question 26

autosomal dominant

Answer 26

familial hypercholesterolemmia

Question 27

x linked recessive

Answer 27

hemophilia A

Question 28

glucose 6 phosphatase defect results in

Answer 28

la von gierke disorder in the LIVER

Question 29

most prevalent amino acid metabolism disorder

Answer 29

phenylketouria (PKU)

Question 30

results from deficiency in branched chain alpha-ketoacid dehydrogenase

Answer 30

maple syrup urine disease

Question 31

T/F: Menkes disease is X linked

Answer 31

T

Question 32

familial hypercholesterolemia is an autosomal ___ disease

Answer 32

dominant

Question 33

what enzyme is not there in phenylketonuria and what does it result in

Answer 33

phenylalanine hydroxylase, severe mental retardation d/t disruption of myelination and protein synthesis

Question 34

what is the prevalence of trisomy 21 and 45X

Answer 34

trisomy 21 - 1/800 | 45X - 1/5000 females

Question 35

what chromosome has part deleted in Wolf-Hirschhorn syndrome

Answer 35

4

Question 36

what is the trisomy XXY called

Answer 36

Klinefelter syndrome

Question 37

Turner syndrome people with X from father have higher/lower IQ's than from their mother

Answer 37

higher

Question 38

what is trisomy 13 known as

Answer 38

patau syndrome

Question 39

what is another name trisomy 18

Answer 39

edward syndrome

Question 40

what is trisomy 21 cause and what is the incidence

Answer 40

down syndrome | 1/800

Question 41

chromosomal diseases are the leading cause of _____ and _____

Answer 41

retardation and pregnancy loss

Question 42

what disease is characterized by degeneration of pigment of retina, cardiac conduction abnormalities, ataxia, deafness, and dementia

Answer 42

kearns-sayer syndrome

Question 43

what are the distinctive facial appearances in fragile x syndrome? several photos that you must ID so dont skip them

Answer 43

large ears, long face

Question 44

what is the most common inherited cause of mental retardation

Answer 44

fragile x syndrome (downs is chromosomal abnormality, not gene mutation)

Question 45

is there father-son transmission?

Answer 45

no

Question 46

even though x linked traits are like autosomal recessive, why do only half the cells in a female express the disease allele

Answer 46

only one X chromosome is active in an individual cell

Question 47

what chromosome has different syndromes is the mutation is from the mother vs the father and what are the 2 syndromes

Answer 47

- chromosome 15 - father - prader willi syndrome - mother - angelman

Question 48

what is locus heterogeneity

Answer 48

single disease phenotype can be caused by mutations at different loci

Question 49

what is it called when 2 or more offspring present with an auto dominant disorder when there is no family history

Answer 49

germline mosaicism

Question 50

homozygous/heterozygous is more sever in dominant diseases

Answer 50

homozygous

Question 51

dominant diseases are more vertical/horizontal, which recessive are more vertical/horizontal

Answer 51

dominant - vert recessive - horiz vert seen in generation after generation

Question 52

T/F heterozygous carriers for recessive diseases are much more common than affected affected homozygotes

Answer 52

T

Question 53

werner syndrome

Answer 53

premature aging, cancer, genome instability; accessory 3' exonuclease and DNA helicase

Question 54

BCRA - 2

Answer 54

breast and ovarian cancer, repair by homologous recombination

Question 55

proofreading of DNA by exonucleases is via ____ activity and RNA is via _____

Answer 55

DNA - 3'->5' | RNA - 5' ->3'

Question 56

what are the two purines in both RNA and DNA

Answer 56

adenine and guanine

Question 57

which pyrimidine is in both DNA and RNA

Answer 57

cytosine

Question 58

which is only in DNA and which is only in RNA

Answer 58

thymine, Uracil

Question 59

purine and pyrimidine bases -> ______ -> nucleotides-> ______

Answer 59

nucleosides, nucleic acids

Question 60

what is a nucleoside

Answer 60

addition of a pentose sugar to a base (ribose or deoxyribose to cytosine)

Question 61

5' end of the nucleotide chain is always on the L or R

Answer 61

L

Question 62

one complete turn of the DNA duplex occurs every ___ base pairs

Answer 62

10

Question 63

A is always with __ and G is always with ___ by ___ bonds

Answer 63

AT GC hydrogen