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Tri 4 - Med Genomics > Midterm > Flashcards

Midterm Flashcards

1
Q

what is responsible for the strong negative charge of nucleic acid

A

phosphate group

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2
Q

what is semiconservative replication of DNA

A

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

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3
Q

what is very long and has multiple origins of replication

A

eukaryotic DNA

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4
Q

what is single stranded DNA binding proteins

A

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)

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5
Q

what has a 5’ -> 3’ polymerase activity

A

DNA polymerase

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6
Q

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

A

exercise mismatched nucleotides during proofreading of newly synthesized DNA

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7
Q

DNA polymerase uses _____ activity for RNA primers

A

5’ -> 3’ exonuclease

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8
Q

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

A

pol alpha

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9
Q

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

A

RNA polymerase

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10
Q

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

A

RNA polymerase III

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11
Q

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

A

degeneracy

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12
Q

autosomal dominant disorder

A

huntington disease

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13
Q

autosomal recessive disorder

A

galactosemia

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14
Q

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

A

50

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15
Q

causation of the same disease phenotype by mutations at different loci

A

locus heterogeneity

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16
Q

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

A

genomic imprinting

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17
Q

what is trismony 13

A

patau syndrome

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18
Q

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

A

friedreich ataxia

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19
Q

trismony 21

A

incidence 1 in 800 births, down syndrome

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20
Q

trismony 18

A

produces edward syndrome - most common chromosome abnormality among still borns

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21
Q

trismony XXY (kayrotype 47)

A

klinefelter syndrome

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22
Q

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

A

RNA

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23
Q

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)

A

fragile x syndrome

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24
Q

when permutations tend to become larger in successive generations

A

sherman paradox

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25
Q

mitochondrial inheritances disease

A

kearns-sayer syndrome

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26
Q

autosomal dominant

A

familial hypercholesterolemmia

27
Q

x linked recessive

A

hemophilia A

28
Q

glucose 6 phosphatase defect results in

A

la von gierke disorder in the LIVER

29
Q

most prevalent amino acid metabolism disorder

A

phenylketouria (PKU)

30
Q

results from deficiency in branched chain alpha-ketoacid dehydrogenase

A

maple syrup urine disease

31
Q

T/F: Menkes disease is X linked

A

T

32
Q

familial hypercholesterolemia is an autosomal ___ disease

A

dominant

33
Q

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

A

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

34
Q

what is the prevalence of trisomy 21 and 45X

A

trisomy 21 - 1/800

45X - 1/5000 females

35
Q

what chromosome has part deleted in Wolf-Hirschhorn syndrome

A

4

36
Q

what is the trisomy XXY called

A

Klinefelter syndrome

37
Q

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

A

higher

38
Q

what is trisomy 13 known as

A

patau syndrome

39
Q

what is another name trisomy 18

A

edward syndrome

40
Q

what is trisomy 21 cause and what is the incidence

A

down syndrome

1/800

41
Q

chromosomal diseases are the leading cause of _____ and _____

A

retardation and pregnancy loss

42
Q

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

A

kearns-sayer syndrome

43
Q

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

A

large ears, long face

44
Q

what is the most common inherited cause of mental retardation

A

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

45
Q

is there father-son transmission?

A

no

46
Q

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

A

only one X chromosome is active in an individual cell

47
Q

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

A
  • chromosome 15
  • father - prader willi syndrome
  • mother - angelman
48
Q

what is locus heterogeneity

A

single disease phenotype can be caused by mutations at different loci

49
Q

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

A

germline mosaicism

50
Q

homozygous/heterozygous is more sever in dominant diseases

A

homozygous

51
Q

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

A

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

52
Q

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

A

T

53
Q

werner syndrome

A

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

54
Q

BCRA - 2

A

breast and ovarian cancer, repair by homologous recombination

55
Q

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

A

DNA - 3’->5’

RNA - 5’ ->3’

56
Q

what are the two purines in both RNA and DNA

A

adenine and guanine

57
Q

which pyrimidine is in both DNA and RNA

A

cytosine

58
Q

which is only in DNA and which is only in RNA

A

thymine, Uracil

59
Q

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

A

nucleosides, nucleic acids

60
Q

what is a nucleoside

A

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

61
Q

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

A

L

62
Q

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

A

10

63
Q

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

A

AT
GC
hydrogen

Tri 4 - Med Genomics (2 decks)

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