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HSCI 100 > Human Genome and Gene Expression > Flashcards

Human Genome and Gene Expression Flashcards

1
Q

what type of molecule is a double helix

A

DNA

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2
Q

what molecule is each human chromosome

A

a single linear DNA molecule with a string of nucleotides that spell out genes

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3
Q

when was the first full human genome sequenced

A

in 2003

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4
Q

what does a human genome consist of

A

around 3 billion basepairs

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5
Q

how many genes are in a human genome

A

25,000

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6
Q

what percentage of genome is protein coding regions

A

around 2%

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7
Q

what makes up 50% of a genome

A

repetitive DNA of truly unknown function

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8
Q

what are polymorphisms

A

sites in the DNA

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9
Q

what are alleles

A

different versions or variants of DNA sequences

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10
Q

how much does it cost to obtain one human genome

A

$1000

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11
Q

what is a gene

A

the entire nucleic acid sequence

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12
Q

what is the purpose of a nucleic acid sequence

A

it is necessary for synthesis of a functional polypeptide

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13
Q

what RNA molecules do DNA regions code for

A

tRNA, rRNA, and mRNA

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14
Q

TRUE OR FALSE: tRNA, rRNA, and mRNA are not genes, but are RNA molecules

A

FALSE: they are considered genes as well as RNA molecules

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15
Q

where do genes lie amidst

A

a large expanse of nonfunctional, non coding DNA and genes

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16
Q

what are different versions of genes called

A

alleles

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17
Q

how much DNA is in each diploid human cell

A

two meters of DNA in length

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18
Q

how does so much DNA fit into a tiny nucleus

A

fold with proteins

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19
Q

how big is a nucleus

A

5 micrometer

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20
Q

how many pairs of chromosomes are in a cell’s nucleus

A

23 pairs

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21
Q

what are pairs of chromosomes called

A

homologous chromosomes

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22
Q

what are autosomes

A

the 22 pairs of chromosomes of homologous chromosomes

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23
Q

what are sex chromosomes

A

the 1 pair that contains genes which establish gender

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24
Q

what are diploids

A

somatic cells that have 46 chromosomes

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25
Q

how do diploid cells divide

A

mitosis

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26
Q

what are haploid cells

A

germ cells that create gametes that have only 23 chromosomes

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27
Q

how do haploid cells divide

A

meiosis

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28
Q

what are somatic cells also known as

A

body cells

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29
Q

what are germ cells also known as

A

sex cells

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30
Q

what is created by a genotype

A

a range of phenotypes

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31
Q

what influences phenotypes

A

the environment

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32
Q

how many copies of each gene do we have

A

2

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33
Q

what is a dominant allele

A

a single copy of the allele that is sufficient to manifest the phenotype

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34
Q

what is a recessive allele

A

an allele that is only manifested when an organism has two of this type of allele

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35
Q

what is homozygous dominant

A

two dominant alleles

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36
Q

what is homozygous recessive

A

two recessive alleles

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37
Q

what is heterozygous dominant or simply heterozygous

A

one dominant allele and one recessive allele

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38
Q

what is a carrier

A

heterozygote that has a single recessive allele contributing to trait, but since it is recessive the trait is not expressed

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39
Q

what is one-trait cross

A

considers the inheritance of one characteristic and one gene

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40
Q

how is a allele combination created

A

one trait cross

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41
Q

what is an example of one trait cross

A

FF x Ff

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42
Q

what are punnet squares

A

the use of a grid or matrix to diagram crosses between individuals by using the possible parental gametes

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43
Q

what is the purpose of punnet squares

A

to figure the probability that an offspring will have a particular genotype and phenotype

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44
Q

what is a monohybrid cross

A

a punnet square that includes one trait

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45
Q

what is a dihybrid cross

A

a punnet square that includes two trait

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46
Q

what is complete dominance

A

dominant allele produces a functional protein which has apparent effects; recessive allele produces a less functional protein and has no apparent effects

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47
Q

what are the three categories dominance

A

complete dominance, codominance, incomplete dominance

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48
Q

what is codominance

A

both alleles produce functional proteins and effects of both alleles are apparent in the heterozygous phenotype

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49
Q

what is incomplete dominance

A

the expression of a trait in a heterozygous individual is somewhere between expression of the trait in a homozygous dominant individual and the expression of the trait in a homozygous recessive individual

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50
Q

what is an example of incomplete dominance

A

a red rose and a white rose, the next rose would be pink

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51
Q

what is an example of codominance

A

a red fish and a blue fish would create a red spotted blue fish

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52
Q

what is albinism

A

the inability to produce melanin

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53
Q

what causes codominance

A

it occurs when the allels are equally expressed in a heterozygotes

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54
Q

what blood type alleles are codominant

A

A and B

55
Q

what blood type alleles are recessive

A

O

56
Q

what is a phenotype example of incomplete dominance

A

sickle cell allele

57
Q

what is incomplete dominance

A

expression of the trait in a heterozygous individual is in between the way the trait is expressed in homozygous dominant or homozygous recessive person

58
Q

what does the allele for sickling hemoglobin produce

A

an aboral form of hemoglobin that is less efficient in binding oxygen

59
Q

what are polygenic traits

A

traits that are often non discrete or continuous aka quantitative traits

60
Q

what is an example of a polygenic trait

A

height

61
Q

what are pleiotropy traits

A

one gene that contributes to multiple traits

62
Q

what is a multifactorial trait

A

a polygenic trait that is also influence by the environment

63
Q

what are examples of multifactorial traits

A

skin color, and tanning

64
Q

what is x-linked inheritance

A

the allele is carried on the x chromosome

65
Q

what is y-linked inheritance

A

the allele is carried on the Y chromosome

66
Q

TRUE OR FALSE: most sex-linked traits are Y-linked

A

FALSE it is x linked

67
Q

TRUE OR FALSE: most sex linked trait are not related to sexual characteristics

A

TRUE

68
Q

what is color blindness

A

most often characterized by red-green color blindness

69
Q

what is muscular dystrophy

A

characterized by wasting of muscles and death by age 20

70
Q

what is hemophilia

A

characterized by the absence of particular clotting factors that causes blood to clot very slowly or not at all

71
Q

who are X linked traits and disorders found in

A

males

72
Q

why are X linked disorders more often found in males

A

because recessive alleles are always expressed and males can only be homozygous for x linked alleles

73
Q

what is mutation

A

a heritable change in DNA sequence

74
Q

what time can mutations occur

A

any time

75
Q

what are the two types of mutations

A

gremline and somatic

76
Q

what are genetic disorders

A

disease causing alleles autosomal recessive

77
Q

what is tay-sachs disease

A

lack of the enzyme that breaks down lipids in cell lysosomes resulting in lipid excess and eventually death in infants

78
Q

what is cystic fibrosis

A

ion channel defect, so Cl- ions do not pass normal through a cell membrane resulting in thick mucus in lungs and other places often causing infections

79
Q

what is phenylketonuria (PKU)

A

lack of an enzyme needed to make a certain amino acid (tyrosine) and affects nervous system development

80
Q

what is sickle cell disease

A

red blood cells are sickle shaped (rather than biconcave) clogging blood vessels and are less efficient at carrying oxygen

81
Q

what is Huntington disease

A

huntington protein has too many glutamine amino acids leading to the progressive degeneration of brain cells

82
Q

what is Marfan syndrome

A

a genetic disorder that affects the connective tissue. mainly affects the skeletal, cardiovascular and ocular systems

83
Q

what does DNA stand for

A

deoxyribonucleic acid

84
Q

what is DNA

A

double stranded molecule twisted to form a double helix

85
Q

what is a nucleotide consist of

A

one sugar, one phosphate, one nitrogenous base

86
Q

what are the pairs in a nucleotide

A

A and T and C and G

87
Q

how does DNA go to RNA

A

transcription

88
Q

how does RNA go to protein

A

translation

89
Q

how does DNA replicate

A

the parental molecule unwinds and unzips,
both parental strands serve as templates for new strands,
free nucleotides link to complementary bases on each DNA strand

90
Q

what is the function of DNA polymerases

A

to link sugars and phosphates

91
Q

what is DNA polymerases

A

a protein and an enzyme

92
Q

how does DNA direct cellular activities

A

DNA codes for RNA, which codes for proteins, and proteins play structural or functional roles in cells

93
Q

how is a gene expressed

A

when the protein it codes for is produced

94
Q

what is RNA

A

single stranded polymers

95
Q

what makes up RNA

A

nucleotides

96
Q

what’s the backbone of RNA

A

ribose and suer-phosphate

97
Q

what are the bases in RNA

A

A,C,G and U

98
Q

what are the three main types of RNA

A

mRNA, tRNA, and rRNA

99
Q

what is mRNA

A

messenger RNA

100
Q

what is the function of mRNA

A

carries genetic information from DNA to the ribosomes

101
Q

what is rRNA

A

ribosomal RNA

102
Q

what is the function of rRNA

A

joins with proteins to form ribosomes

103
Q

what is tRNA

A

transfer RNA

104
Q

what is the function of tRNA

A

transfers amino acids to a ribosomes where they are linked together to make polypeptides or proteins

105
Q

what are ribozymes

A

enzymatic RNAs

106
Q

what is snoRNA

A

components of mRMA splicing machinery

107
Q

what is miRNA

A

microRNAs that regulate gene expressions

108
Q

what are the two main steps of gene expression

A

transcription and translation

109
Q

what is transcription

A

DNA is read to make mRNA in the nucleus of our cells

110
Q

what is used to make mRNA

A

RNA polymerase

111
Q

what is translation

A

reading the mRNA to make a protein in the cytoplasm on the ribosomes

112
Q

what are the three steps of transcription

A

DNA unwinds, RNA nucleotides pair with DNA bases and are linked together, The RNA transcript is released from the DNA

113
Q

what is introns

A

intervening sequences

114
Q

what are exons

A

expressed sequences

115
Q

what modifications to mRNA are made before it leaves the nucleus

A

removal of introns

116
Q

what is the role of exons

A

to direct protein synthesis

117
Q

what does codon mean

A

“words” in the genetic code

118
Q

what are the stop codes for genes

A

UAA, UGA, and UAG

119
Q

what is the start code for genes

A

AUG

120
Q

what is the function of anticodon

A

binds to codon on MRNA, following complementary base pairing rules

121
Q

what is the function amino acid attachment sites

A

the bind to a specific amino acid

122
Q

what is the structure of ribosomes

A

two subunits, each composed of ribosomal RNA (rRNA) and protein

123
Q

what is the function of ribosomes

A

bring tRNA bearing an amino acid close enough to mRNA to interact

124
Q

what is the initiation stage of translation

A

major players in protein synthesis come together

125
Q

what is the elongation stage of translation

A

occurs as enzymes in the ribosome link the amino acids, forming a growing chain of amino acids

126
Q

what is the termination stage of translation

A

occurs when a stop codon moves into the ribosome

127
Q

what is the molecular definition of a gene

A

a genes the entire nucleic acid sequence that is necessary for the synthesis of a functional polypeptide

128
Q

what do active genes produce

A

specific proteins that determine the structure and function of a particular cell

129
Q

what is heterochromatin

A

tightly packed chromatin which is not actively transcribed

130
Q

what is euchromatin

A

loosely packed chromatin, which is accessible by transcription enzymes

131
Q

what is epigenetics

A

the study of heritable changes in gene function which are not controlled by changes in the DNA sequence

132
Q

what are mechanisms of epigenetics

A

DNA methylation, histone modifications, chromatin folding

133
Q

what is an example of epigenetic change

A

a woman who smokes while pregnant induces epigenetic changes in three generations at once, in herself, her unborn daughter, and her daughter’s reproductive cells

HSCI 100 (6 decks)

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