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Flashcards in Midterm Deck (63):
1

what is responsible for the strong negative charge of nucleic acid

phosphate group

2

what is semiconservative replication of DNA

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

3

what is very long and has multiple origins of replication

eukaryotic DNA

4

what is single stranded DNA binding proteins

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)

5

what has a 5' -> 3' polymerase activity

DNA polymerase

6

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

exercise mismatched nucleotides during proofreading of newly synthesized DNA

7

DNA polymerase uses _____ activity for RNA primers

5' -> 3' exonuclease

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

pol alpha

9

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

RNA polymerase

10

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

RNA polymerase III

11

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

degeneracy

12

autosomal dominant disorder

huntington disease

13

autosomal recessive disorder

galactosemia

14

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

50

15

causation of the same disease phenotype by mutations at different loci

locus heterogeneity

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

genomic imprinting

17

what is trismony 13

patau syndrome

18

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

friedreich ataxia

19

trismony 21

incidence 1 in 800 births, down syndrome

20

trismony 18

produces edward syndrome - most common chromosome abnormality among still borns

21

trismony XXY (kayrotype 47)

klinefelter syndrome

22

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

RNA

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)

fragile x syndrome

24

when permutations tend to become larger in successive generations

sherman paradox

25

mitochondrial inheritances disease

kearns-sayer syndrome

26

autosomal dominant

familial hypercholesterolemmia

27

x linked recessive

hemophilia A

28

glucose 6 phosphatase defect results in

la von gierke disorder in the LIVER

29

most prevalent amino acid metabolism disorder

phenylketouria (PKU)

30

results from deficiency in branched chain alpha-ketoacid dehydrogenase

maple syrup urine disease

31

T/F: Menkes disease is X linked

T

32

familial hypercholesterolemia is an autosomal ___ disease

dominant

33

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

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

34

what is the prevalence of trisomy 21 and 45X

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

35

what chromosome has part deleted in Wolf-Hirschhorn syndrome

4

36

what is the trisomy XXY called

Klinefelter syndrome

37

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

higher

38

what is trisomy 13 known as

patau syndrome

39

what is another name trisomy 18

edward syndrome

40

what is trisomy 21 cause and what is the incidence

down syndrome
1/800

41

chromosomal diseases are the leading cause of _____ and _____

retardation and pregnancy loss

42

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

kearns-sayer syndrome

43

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

large ears, long face

44

what is the most common inherited cause of mental retardation

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

45

is there father-son transmission?

no

46

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

only one X chromosome is active in an individual cell

47

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

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

48

what is locus heterogeneity

single disease phenotype can be caused by mutations at different loci

49

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

germline mosaicism

50

homozygous/heterozygous is more sever in dominant diseases

homozygous

51

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

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

52

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

T

53

werner syndrome

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

54

BCRA - 2

breast and ovarian cancer, repair by homologous recombination

55

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

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

56

what are the two purines in both RNA and DNA

adenine and guanine

57

which pyrimidine is in both DNA and RNA

cytosine

58

which is only in DNA and which is only in RNA

thymine, Uracil

59

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

nucleosides, nucleic acids

60

what is a nucleoside

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

61

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

L

62

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

10

63

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

AT
GC
hydrogen