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Genomics > Exam 1 > Flashcards

Exam 1 Flashcards

1
Q

unwinds and hold apart the replicating DNA.

A

helicase

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2
Q

stop the separated strands from rejoining

A

Binding protein

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3
Q

adds short primers to separate strands of DNA

A

primase

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4
Q

serve as anchors for construction of the new chains of DNA

A

primers

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5
Q

brings in nucleotides to bind to the exposed DNA strands, and it corrects errors made during replication

A

DNA polymerase

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6
Q

are also removed and replaced with the proper DNA bases

A

short primers

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7
Q

seals the sugar phosphate backbone of the DNA

A

ligase

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8
Q

The two strands of DNA are considered to be antiparallel

A

DNA directionality

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9
Q

what is the direction for DNA ?

A

5’ to 3’

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10
Q

a portion of the DNA code, a gene is a template for the synthesis of a complementary chunk of mRNA. mRNA carries codes specifying particular amino acids and directs protein synthesis.

A

transcription

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11
Q

What is being constructed in transcription?

A

mRNA

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12
Q

structure that is single stranded and instead of deoxyribose, has a slightly different sugar, called ribose

A

RNA

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13
Q

In RNA, the nitrogenous bases are what?

A

U instead of T

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14
Q

building blocks of proteins

A

amino acids

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15
Q

process of producing proteins is known as? usually makes ribosomes

A

translation

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16
Q
  • initiate gene transcription at those regions

- ontain special sequences that signify the start point of particular gene

A

promoters

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17
Q

are non-protein- encoding fragments of genetic code

A

introns

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18
Q

are the portions of genetic code that ultimately get translated

A

exons

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19
Q

a change in the nitrogenous base sequence of a gene’s DNA

A

gene mutation

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20
Q

make up tissues and organs of the body ( 23 pairs of chromosome)

A

somatic cells

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21
Q

occurs in somatic cells typically during DNA replication so its very localized of the mutation

A

somatic mutations

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22
Q

any detectable and heritable variation in the lineage of germ cells

A

germline mutations

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23
Q

a change in a single DNA base

A

point mutation

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24
Q
  • point mutation that changes a codon that normally specifies a particular amino acid into on that encodes for a different amino acid
  • If the structured is changed results may be signs or symptoms of a disease or another observably different phenotype
A

missense mutation

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25
Q

point mutations that change a codon specifying an amino acid to “stop” codon. A stop shortens the protein product and can profoundly change its function

A

nonsense mutation

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26
Q

type of mutation that is responsible for addition or deletion of bases

A

formation shift mutation

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27
Q

What are the two types of formation shift mutation?

A
  1. insertion

2. deletion

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28
Q

areas that the sequence is repeated and the DNA may actually double up on itself

A

mutation hotspots

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29
Q

mutations that are caused by toxic exposures

A

induced mutations

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30
Q

an agent that induces a mutation

A

mutagens

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31
Q

wavelengths can damage DNA by causing an extra bond to form between pyrimidine bases located next to each other in a strand of DNA

A

UV radiation

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32
Q

a specific version of a gene; same from both parents homozygous and different heterozygous for that gene

A

alleles

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33
Q

the degree to which survival is helped or hindered by possession of a particular allele and its associated phenotype will determine the frequency of that allele within a population

A

natural selection

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34
Q

DNA is what type of material?

A

hereditary material

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35
Q

helical ladder shaped molecule that htas the capability of unraveling and making copies of itsel

A

DNA

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36
Q

DNA coils around proteins called what?

A

histones

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37
Q

the building blocks of DNA consist of nitrogenous bases that are bound to one sugar group and on phosphate groups

A

nucleotides

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38
Q

what are the 4 nitrogenous bases?

A

adenine (A), Guanine (G), thymine (T), and cytosine (C)

39
Q

adenine and guanine are classified as what?

A

purines

40
Q

thymine and cytosine are classified as what?

A

pyrimidines

41
Q

what is the backbone of DNA?

A

sugar phosphate

42
Q

what are the 4 types of changes in chromosome structure?

A
  1. deletion
  2. duplication
  3. inversion
  4. translocation
43
Q

removes a chromosomal segment

A

deletion

44
Q

repeats a segment

A

duplication

45
Q

reverses a segment within a chromosome

A

inversion

46
Q

moves a segment from one chromosome to another

A

translocation

47
Q
  • homologous pairs of chromosomes orient randomly at metaphase I meiosis
  • each pair of chromosomes sorts maternal and paternal homologues into daughter cells independently of the other pairs
A

independent assortment of chromosomes

48
Q

crossing over produces_____ which combine genes inherited from each parent

A

recombinant chromosomes

49
Q

adds to genetic variation because any sperm can fuse with any ovum

A

random fertilization

50
Q

what are the three mechanisms for genetic variation

A
  1. independent assortment of chromosomes
  2. crossing over
  3. random fertilization
51
Q

results in accumulation of genetic variations favored by the environment

A

natural selection

52
Q

large-scale chromosomal alterations leads to what?

A

spontaneous abortions or miscarriages or cause a variety of developmental orders

53
Q

pairs of homologous chromosomes do not separate normally during meiosis

A

nondisjunction

54
Q

results from fertilization of gametes in which nondisjunction occured

A

aneuploidy

55
Q

a zygote has only one copy of a particular chromosome

A

monosomic

56
Q

zygote has three copies of a particular chromosome

A

trisomic

57
Q

a condition in which an organism has more than two complete sets of chromosomes

A

polyploidy

58
Q

is polyploidy common in plants or animals?

A

plants

59
Q

are polyploidy more normal in appearance than aneuploidy?

A

yes

60
Q

an aneuploid condition that results from three copies of chromosome 21

A

down syndrome

61
Q

the result of an extra chromosome in a MALE, producing XXY individuals

A

Klinefelter syndrome

62
Q

produces X0 females, who are sterile; it is the only known viable monosomy in humans

A

Turner syndrome

63
Q
  • results from a specific deletion in chromosome 5
  • delayed development
  • small head size
  • low birth weight
  • weak muscle tone in infancy
A

cri du chat

64
Q

type of allele that determines the organism’s appearance

A

dominant allele

65
Q

type of allele that has no noticeable effect on appearance

A

recessive allele

66
Q

states that 2 alleles for a heritable character separate (segregate) during gamete formation and end up in different gametes

A

law of segregation

67
Q

diagram for predicting the results of a genetic cross between individuals of known genetic makeup

A

Punnett square

68
Q

what are the 3 degrees of dominance?

A
  • complete dominance
  • incomplete dominance
  • codominance
69
Q

occurs when phenotypes of the heterozygote and dominant homozygote are IDENTICAL

A

complete dominance

70
Q

the phenotype of hybrids is SOMEWHERE BETWEEN the phenotypes of the two parental varieties

A

incomplete dominance

71
Q

2 dominant alleles afeect the phenotype in separate, distinguishable ways

A

codominance

72
Q

the property that most genes have multiple PHENOTYPIC effects

A

pleiotrophy

73
Q

gene at one locus alters the phenotypic expression of a gene at a second locus

A

epistasis

74
Q

characters that vary in the population along a continuum

A

quantitative character

75
Q

an additive effect of 2 or more genes on a single phenotype

A

polygenic inheritance

76
Q

what is an example of a polygenic inheritance?

A

skin color in humans

77
Q

the phenotypic range of a genotype influenced by the environment

A

norm of reaction

78
Q

term that describes genetic and environmental factors as something that influences phenotype

A

multifactoral

79
Q

what are examples of multifactorial disorders?

A
  • CVD

- cancer

80
Q

a family tree that describes the interrelationships of parents and children across generation

A

pedigree

81
Q

true or false. many genetic disorders are inherited in a recessive manner

A

true

82
Q

are HETEROZYGOUS individuals who carry the recessive allele but are phenotypically normal

A

carriers

83
Q

a recessive condition characterized by a lack of pigmentation of skin and hair

A

albinism

84
Q

a form of dwarfism caused by a rare DOMINANT allele

A

achondroplasia

85
Q

gene located on either sex chromosome

A

sex-linked gene

86
Q

sex linked recessive disorders are more common in males or females?

A

males

87
Q

phenotype depends on which PARENT passed along the alleles for mammalian traits

A

genomic imprinting

88
Q

the liquid that bathes the fetus is removed and tested

A

amniocentesis

89
Q

sample of placenta is removed and tested

A

chorionic villus sampling (CVS)

90
Q

the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease

A

genetic counseling

91
Q

the process by which DNA directs protein synthesis, includes two stages

A

transcription and translation

92
Q

who developed the one gene to one enzyme hypothesis that states that each gene dictates production of a specific enzyme?

A

Beadle and Tatum

93
Q

the synthesis of RNA under the direction of DNA?

A

transcription

94
Q

transcription produces what?

A

mRNA

Genomics (1 decks)

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