Exam 1 Flashcards

(127 cards)

1
Q

William Harvey (1578-1657)

A

theory of epigenesis

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2
Q

theory of epigenesis

A

structures are not initially present and develop over time

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3
Q

Schleiden and Schwann

A

cell theory, all living things are composed of cells

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4
Q

Charles Darwin

A

natural selection and descent with modification

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5
Q

Mendel

A

quantitative data to support his findings published in 1866

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6
Q

Mitosis stages

A

prophase, metaphase, anaphase, telophase

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7
Q

Meiosis differs from mitosis in that:

A

4 gametes that are haploid, not diploid

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8
Q

Diploid number

A

cell condition when two of each type of chromosome are present (2 “sets” of chromosomes)

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9
Q

alleles

A

Different forms of a gene

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10
Q

Avery, MacLeod, McCarty

A

found DNA is the carrier of genetic information

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11
Q

DNA structure

A

antiparallel, double helix, phosphate - sugar - base

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12
Q

Pyrimidines

A

thymine and cytosine

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13
Q

purines

A

Adenine and Guanine

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14
Q

Transcription

A

DNA to RNA

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15
Q

translation

A

The process by which mRNA is decoded and a protein is produced

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16
Q

Recombinant DNA

A

DNA produced by combining DNA from different sources

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17
Q

Reverse Genetics

A

discovering gene function from a genetic sequence

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18
Q

Gene knockout

A

made by disrupting the function of a gene

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19
Q

Chromatin

A

long strands of DNA found in the eukaryotic cell nucleus; condense to form chromosomes

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20
Q

Peptidoglycan

A

makes up bacterial cell walls; sugars cross-linked by short polypeptides

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21
Q

Glycocalyx

A

The external surface of a plasma membrane that is important for cell-to-cell communication

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22
Q

Nucleoid

A

A dense region of DNA in a prokaryotic cell.

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23
Q

Centrioles

A

Cell organelle that aids in cell division in animal cells only, organizes spindle fibers

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24
Q

Homologous pairs

A

Chromosomes that each have a corresponding chromosome from the opposite-sex parent

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25
Centromere
Area where the chromatids of a chromosome are attached
26
somatic cells
Any cells in the body other than reproductive cells
27
Karyokinesis
division of a cell nucleus during mitosis.
28
Cytokinesis
Division of the cytoplasm during cell division
29
cell cycle checkpoints
control mechanisms which ensure proper division of the cell
30
cell cycle checkpoints
G1 G2 M
31
Separase
enzyme that degrades cohesin
32
shugoshin
Maintains centromere cohesion until meiosis II
33
Kinetochore
protein structure where microtubules attach during mitosis
34
Disjunction
the separation of homologous chromosome pairs
35
Meiosis I
Homologous chromosomes separate
36
Meiosis II
sister chromatids separate
37
crossing over
the exchange of genetic material between homologous chromosomes during meiosis
38
Mendel model organism
peas
39
monohybrid cross
A cross between individuals that involves one pair of contrasting traits
40
F1 generation
the first generation of offspring obtained from an experimental cross of two organisms
41
F2 generation
Offspring resulting from the interbreeding of the hybrid F1 generation.
42
reciprocal cross
reverse the phenotypes of each parent relative to the initial cross
43
segregation
separation of alleles during gamete formation
44
Punnett square
diagram showing the gene combinations that might result from a genetic cross
45
test cross
Used to figure out if the genotype is heterozygous or homozygous dominant - cross between dominant phenotype and homozygous recessive
46
dihybrid cross
A cross between two individuals, concentrating on two definable traits
47
Independent Assortment
genes assort independently during gametes formation
48
trihybrid cross
three pairs of contrasting traits crossed
49
Discontinuous variation
The pattern of variation for a trait whose phenotypes fall into two or more distinct classes
50
Continuous variation
A characteristic that changes gradually after a range of values ex. Height
51
chromosomal theory of inheritance
The idea that the genetic material in living organisms is contained in chromosomes.
52
Chi-squared test
a test of association that is used with nominal data in the form of frequencies - to see if the outlying numbers are due to random chance
53
null hypothesis
2 sets of data are not statistically different from each other
54
degrees of freedom
n-1
55
pedigree
A diagram that shows the occurrence of a genetic trait in several generations of a family.
56
pedigree conventions
circle - female square - male diamond - unknown sex
57
gene interaction
the idea that several genes influence a particular characteristic
58
Mutation
a random error in gene replication that leads to a change
59
Wild type allele
Traits prevailing in nature (the more common traits) - Not necessarily the dominant trait
60
loss of function mutation
Mutation that results in a gene product or protein having less or no function
61
gain of function mutation
Mutation that results in the gene product or protein having a new and abnormal function
62
dominant allele
An allele whose trait shows up in the organism when the allele is present
63
recessive allele
An allele that is masked when a dominant allele is present
64
Incomplete dominance
situation in which one allele is not completely dominant over another, pink
65
Tay-Sachs disease
neuron membranes do not develop properly, therefore cannot conduct impulses properly
66
threshold effect
normal phenotypic expression results if 50% or less of a gene is expressed
67
Codominance
A condition in which neither of two alleles of a gene is dominant or recessive - joint expression
68
multiple alleles
three or more forms of a gene that code for a single trait
69
Bombay phenotype
Homozygous recessive for a mutation which masks the genotype for blood groups
70
lethal alleles
Mutated genes that are capable of causing death
71
Dominant lethal allele
presence of one or more copy of the allele means death
72
Huntington's disease
caused by a dominant allele for a protein found in brain cells, heterozygous delayed until adulthood, progressive degeneration of nervous system dominant autosomal allele
73
Mutant Allele
The less-occurring trait, not necessarily recessive.
74
Recessive Lethal Allele
sufficient for survival
75
gene interaction
the idea that several genes influence a particular characteristic
76
Epistasis
interaction between alleles in which one allele hides the effects of another allele
77
hereditary deafness
the mutation that interrupts many of the steps of ear development
78
Dominant Epistasis
- when dominance at one allele can overshadow other genes
79
Complementation Analysis
screens the number of individual mutations resulting in the same phenotype, and can predict the total number of genes determining a trait
80
Complementation Group
all mutations present in a single gene
81
Pleiotropy
The ability of a single gene to have multiple effects.
82
Marfan syndrome
autosomal dominant; pleiotropic; tall, weak heart
83
porphyria Variegata
autosomal disorder of toxic buildup of porphyrins in the body
84
X linked genes
Genes found on the X chromosome.
85
color blindness
a variety of disorders marked by the inability to distinguish some or all colors, X chromosome-linked
86
Duchenne Muscular Dystrophy
a form of muscular dystrophy that weakens and progressively destroys muscle tissue, lethal x linked recessive disorder
87
sex-limited inheritance
expression of the specific phenotype is absolutely limited to one sex
88
sex influenced trait
an autosomal trait that is influenced by the presence of male or female sex hormones
89
Phenotypic expression
influenced by the environment and by genes
90
Penetrance
percentage of expression of the mutant genotype in a population
91
Expressivity
the degree to which a particular genotype is expressed in the phenotype
92
position effect
Dependence of the expression of a gene on the gene's location in the genome
93
temperature-sensitive mutations
Phenotypic expression is partially determined by the surrounding temperature
94
nutritional mutation
phenotype expressed or not based on nutrition
95
Phenylketonuria
A birth defect that causes an amino acid called phenylalanine to build up in the body.
96
Galactosemia
absence of a necessary enzyme that breaks down fatty galactose
97
Lesch-Nyhan Syndrome
x linked recessive, purine salvage enzyme defect, normal for about 6 months and then dies
98
genetic anticipation
symptoms appear at an earlier age and with more severity across generations
99
genomic imprinting
One parent imprints (inactivates) the gene during transmission to offspring
100
Prader-Willi Syndrome
the paternal segment is deleted
101
Angelman Syndrome
Clinical features with molecular genetic testing and/or cytogenetic analysis, the maternal segment is deleted
102
DNA methylation
chemical modification of parts of the genome may prevent gene expression
103
complete linkage
linkage without crossing over
104
linkage
the tendency of genes on a chromosome to be inherited together
105
crossing over
non-sister chromatids exchanging DNA segment
106
Linkage ratio
the complete linkage between 2 genes due to close proximity
107
linkage group
Genes located together on the same chromosome
108
chiasmata
X-shaped regions where crossing-over occurred.
109
Sturtevant
realized that genes could be linked and came up with the first genetic map of chromosomes
110
map units
unit of distance between genes. 1 = 1% recombination frequency.
111
single crossover
Leads to half recombinant, half non-recombinant
112
Double crossover
double exchanges of genetic material, used to determine the distance between three linked genes and genes must be heterozygous for 2 alleles
113
three-point mapping
the parent must be heterozygous for all 3 genes phenotype class must reflect the genotype of gametes parents sufficient number of offspring must be produced for a represented sample
114
Interference
inhibition of further crossing over events, inhibited by another crossing over event nearby and reduces the expected number of multiple crossovers
115
coefficient of coincidence
the ratio of observed double crossovers to expected double crossovers
116
Complete interference
no double crossovers
117
Positive interference
fewer double crossovers than expected
118
negative interference
more double crossovers than expected
119
somatic cell hybridization
assigning human genes to their respective chromosomes
120
heterokaryon
a cell composed of different nuclear types (i.e. multiple nuclei) in a common cytoplasm
121
synkaryon
heterokaryon where nuclei are fused
122
synteny testing
presence or absence of each chromosome with the presence or absence of each gene product
123
DNA marker
a unique DNA sequence linked to a trait or disease
124
Restriction Fragment Length Polymorphisms (RFLPs)
polymorphic sites generated when specific DNA sequences are recognized and cut by restrictive enzymes
125
Microsatellites
Non-coding stretches of DNA that are highly repetitive and have a high mutation rate
126
single nucleotide polymorphism
variation in a DNA sequence occurring when a single nucleotide in a genome is altered.
127
Cystic fibrosis
A disease that affects the mucous glands throughout the body