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General Genetics (Molgen 4500) > Exam 1- Ch 1-5, 8,9 > Flashcards

Exam 1- Ch 1-5, 8,9 Flashcards

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1
Q

When a single phenotype is affected by more than one set of genes

A

Gene Interaction

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2
Q

Genes that are present on the X chromosome

A

X-linkage

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3
Q

An alternative form of a gene

A

Allele

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4
Q

A mutation that produces alleles encoding proteins with reduced or no function

A

Loss of function mutation

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5
Q

Mutations that enhance the function of the wild-type product

Usually, the quantity of the gene product increases

A

Gain of function mutations

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6
Q

A mutation that has no detectable change in function
No change to the phenotype
No change to the evolutionary fitness of the organism

A

Neutral Mutations

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7
Q

Expressing a heterozygous phenotype that is distinct from the phenotype of either homozygous parent

A

Incomplete/partial dominance

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8
Q

Where a normal phenotype expression occurs anytime a minimal level of gene product is attained

A

Threshold effect

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9
Q

Joint expression of both alleles in a heterozygote

No dominance or recessiveness; no incomplete or blending

A

Codominance

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10
Q

Three or more alleles of the same gene; resulting mode of inheritance
Can only be studied in populations

A

Multiple Alleles

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11
Q

Has potential to cause death of organism
Result of mutations in essential genes
Usually recessive

A

Lethal Allele

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12
Q

Presence of one copy of allele results in death

A

Dominant Lethal Allele

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13
Q

Expression of one gene masks/modifies effect of another gene pair
Gene masks phenotypic effects of another gene
Each step of development increases complexity of organ
Under control and influence of many genes

A

Epistasis

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14
Q

Screens number of individual mutations resulting in the same phenotype
Can predict total number of genes determining a trait

A

Complementation Analysis

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15
Q

All mutations present in any single gene

A

Complementation Group

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16
Q

Expression of single gene has multiple phenotypic effects

A

Pleiotropy

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17
Q

Expression of specific phenotype is absolutely limited to one sex

A

Sex-limited inheritance

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18
Q

Sex of individual influences expression of phenotype

Not limited to one sex or the other

A

Sex-influenced inheritance

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19
Q

Percentage of expression of the mutant genotype in a population

A

Penetrance

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20
Q

Range of expression of mutant phenotype

Result of genetic background differences and/or environmental effects

A

Expressivity

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21
Q

Physical location of gene influences expression

A

Position Effect

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22
Q

Genetic disease has earlier onset and increased severity with each succeeding generation

A

Genetic Anticipation

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23
Q

Individuals with heritable traits that allow them to adapt to the environment are better able to survive and reproduce
Long periods of time allow slightly advantageous variations to accumulate

A

Natural Selection

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24
Q

Descent with modification from ancient species

A

Evolution

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25
Q

All organisms are composed of structural units called cells, which are derived from pre-existing cells

A

Cell Theory

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26
Q

The study of the origin, transmission, and expression of genetic information

A

Genetics

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27
Q

? leads to production of sex cells: gametes/spores

A

Meiosis

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28
Q

Egg contains a homunculus (mini adult)

A

Theory of Preformation

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29
Q

Proteins associated with centromere

Spindle fibers bind to kinetochore, chromosomes migrate

A

Kinetochore

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30
Q

Site of oxidative phosphorylation

Contains its own set of DNA

A

Mitochondria

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31
Q

Find a mutation, determine what gene is affected

A

Forward Genetics

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32
Q

Plants, algae, protozoans
Site of photosynthesis
Contains its own set of DNA

A

Chloroplasts

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33
Q

Unit of inheritance that codes for a specific trait

A

Gene

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34
Q

The physical expression of a trait

A

Phenotype

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35
Q

A dominant-recessive relationship

A

Discontinuous Variation

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36
Q

Genetic material in living organisms contained in chromosomes
Separation of chromosomes during meiosis serves as a basis for Mendel’s principles of segregation and independent assortment

A

Chromosomal Theory of Inheritance

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37
Q

Family tree with respect to given trait; reveals patterns of inheritance of human traits

A

Pedigree

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38
Q

Parents are related

A

Consanguineous

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39
Q

S phase: DNA is synthesized

Two gap phases: G1 & G2

A

Interphase

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40
Q

Interphase and mitosis

A

Cell Cycle

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41
Q

How genes are transmitted from parents to offspring

A

Transmission Genetics

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42
Q

Point in G1 where cells are non-dividing, but at a metabolically active state

A

G0 Phase

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43
Q

Offspring were a blend of parental phenotypes

A

Continuous Variation

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44
Q

The individual whose phenotype first brought attention to the family

A

Proband

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45
Q

Genetic material partitioned to daughter cells during nuclear division

A

Karyokinesis

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46
Q

Exact copy attached by the centromere

A

Sister chromatids

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47
Q

Similar in size and shape but not identical
Carry genes for the same inherited characteristics at the same location
May carry different versions (alleles) of the same gene

A

Homologous Chromosomes

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48
Q

Between the middle and end

A

Submetacentric

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49
Q 
Unit factors (traits) assort independently during gamete formation
All possible gamete combinations form with equal frequency
A

Independent Assortment

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50
Q

Alleles are different

A

Heterozygous

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51
Q

Genetic makeup of an individual

A

Genotype

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52
Q
  1. Centrioles move to cell ends. Centrosomes organize microtubule spindle fibers.
  2. Nuclear envelope dissolves with nucleolus. Chromatin condenses -> visible chromosomes
    Sister chromatids connected by cohesin
A

Prophase

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53
Q

Characterized by the absence of visible chromosomes

A

Interphase

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54
Q

Cells won’t divide, but are still metabolically active

A

Quiescent cells

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55
Q

Chromosomes and centromeres align on metaphase plate

A

Metaphase

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56
Q

Transferring genes between species to a model disease

A

Transgenic Species

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57
Q

DNA that encodes rRNA

A

Nucleolus Organizer Region (NOR)

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58
Q

The centromeres are positioned on the metaphase plate

A

Metaphase II

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59
Q

Everything in the cell membrane

A

Cytoplasm

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60
Q

Recognition sites that transfer specific chemical signals across the cell membrane

A

Receptor Molecules

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61
Q

Movement of chromosomes to metaphase plate (spindle fibers form)

A

Prometaphase

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62
Q

Where ribosomal RNA (rRNA) is synthesized

A

Nucleolus

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63
Q

Microtubules (tubulin) and microfilaments (actin)

A

Cytoskeleton

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64
Q

Synthesizes lipids, steroid hormones, detoxes and strokes and metabolizes calcium ions

A

Smooth ER

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65
Q

Found in centrosome of animal and plant cells
Organize spindle fibers for movement of chromosomes during mitosis and meiosis
Derived from the basal body

A

Centrioles

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66
Q

Offspring of F1 generation crossed; second filial generation

A

F2 generation

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67
Q

Produces cilia and flagella, made up of microtubules

A

Basal Body

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68
Q

Cytoplasmic division follows, two new cells produced

A

Cytokinesis

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69
Q

Constricted regions on chromosomes

Location of centromere establishes appearance of chromosome

A

Centromere

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70
Q

Genetic exchange between members of homologous pairs of chromosomes

A

Crossing Over

71
Q

Results from symbiotic or parasitic association with a microorganism
Inherited phenotype affected by microbe in host’s cytoplasm

A

Infectious Heredity

72
Q 
Same as mitosis with a few additions:
Synapsis- homologous chromosomes pair up
Create bivalent 
Further condensation -> tetrad with sister chromatids
Crossing over
A

Prophase I

73
Q

Where nonsister chromatids join and swap genetic material during crossing over

A

Chiasmata

74
Q

Sister chromatids are separated to opposite poles; each haploid daughter from meiosis II has one member of each pair of homologous chromosomes

A

Anaphase II

75
Q

One member of each pair of homologous chromosomes present at each pole

A

Telophase II

76
Q

Studies protein functions and interactions, identifies a set of proteins present in cells under a given set of conditions

A

Proteomics

77
Q

Maternal and paternal chromosomes

A

Mosaic chromosomes

78
Q

Equational division

A

Meiosis II

79
Q

Chromsomes at maximum condensation
Terminal chiasmata holding nonsister chromatids together
Binding to spindle fibers moves chromatids to metaphase plate
Random orientation of tetrads

A

Metaphase I

80
Q

Reduction division
Half of each tetrad or homologous pair are pulled to each pole
Nondisjunction- errors in separation

A

Anaphase I

81
Q

Both alleles are the same

A

Homozygous

82
Q

Alternative form of a single gene

A

Allele

83
Q

Covers plasma membrane

Function: biochemical identity at cell surface

A

Cell coat

84
Q

During non divisional phases, chromosomes uncoil into a diffuse network within the nucleus

A

Chromatin

85
Q

Know the gene and use molecular techniques to induce a specific mutation of the gene to study the genotype

A

Reverse Genetics

86
Q

Organisms develop from a fertilized egg by a series of developmental events in order to form an adult

A

Theory of epigenesis

87
Q

Produces proteins

A

Rough ER

88
Q

original parents/parental generation

A

P1 generation

89
Q

Offspring, first filial generation

A

F1 generation

90
Q

At end

A

Telocentric

91
Q

Makes proteins

A

Ribosomes

92
Q

Same as mitosis but,
2 haploid cells result
Sometimes a nuclear forms and enters interphase, sometimes it’s skipped

A

Telophase I

93
Q

Reductional division

A

Meiosis I

94
Q

Transmission of genetic information to offspring through the cytoplasm, not the nucleus, usually from one parent

A

Extranuclear inheritance

95
Q

DNA contained in mitochondria or chloroplasts determines certain phenotypic characteristics of offspring

A

Organelle heredity

96
Q

Nuclear gene products are stored in the egg, then transmitted through the ooplasm to offspring—influence phenotype

A

Maternal effect

97
Q

Close to end

A

Acrocentric

98
Q

Reduces amount of genetic material by half
Produces haploid gametes or spores with unique combination of maternal and paternal derived chromosomes
DNA synthesis

A

Meiosis

99
Q

Partitions chromosomes into dividing cells

Produces daughter cells with a full diploid complement of chromosomes

A

Mitosis

100
Q

A constriction of the cytoplasm in animal cells

A

Cell furrow

101
Q

Uncoiling of the chromosomes
Reformation of the nuclear envelope
Spindle fibers disappear
Nuclear envelope forms

A

Telophase

102
Q

Membrane bound
Houses genetic material, DNA
Nucleolus, NOR

A

Nucleus (eukaryotes)

103
Q

? leads to the production of two cells

A

Mitosis

104
Q

Each dyad is composed of one pair of sister chromatids attached by the common centromeric region

A

Prophase II

105
Q

Sister chromatids separate

A

Disjunction

106
Q

Centromeres split and daughter chromosomes migrate to opposite poles

A

Anaphase

107
Q

Protein that protects cohesin from being degraded by separase

A

Shugoshin

108
Q

Middle

A

Metacentric

109
Q

Enzymes that degrades cohesin

A

Separase

110
Q

Uses hardware and software for processing nucleotide and protein data

A

Bioninformatics

111
Q

Any heritable change in the DNA sequence, source of all genetic variation

A

Mutation

112
Q

Protein complex that holds sister chromatids together

A

Cohesin

113
Q

Have one end near the centrosome region and the other end anchored to the kinetochore

A

Kinetochore Microtubules

114
Q

Not membrane bound
Circular DNA
No coiling or condensing
No proteins incorporated

A

Nucleoid

115
Q

Fluid inside the cell

A

Cystol

116
Q

Studies the structure, function, and evolution of genes and genomes

A

Genomics

117
Q

Loss of a single chromosome in a diploid genome, 2n-1

A

Monosomy

118
Q

Double exchanges of genetic material
Used to determine distance between three linked genes
Genes must be heterozygous for two alleles

A

Double Crossover

119
Q

More than 2 multiples of haploid chromosomes found

A

Polyploidy

120
Q

Only consistently shared characteristic—males are over 6 ft tall
Subnormal intelligence
Personality disorders

A

47, XXY Condition

121
Q

Inhibition of further crossover event nearby

Reduces expected number of multiple crossovers; complete when no double crossovers occur

A

Interference

122
Q

Relies on probability calculations in linkages based on pedigrees
Assesses probability that pedigree with two traits reflects genetic linkage between them
Requires large extensive pedigrees

A

Lod score method

123
Q

Proved to be helpful in assigning human genes to their respective chromosomes, involves fusing two cells into a single hybrid cell

A

Somatic cell hybridization

124
Q

3n, 4n, 5n chromsomes

A

Tri, tetra, penta-ploid

125
Q

A somatic cell containing nuclei from two different sources

A

Heterokaryon

126
Q

Heterokaryons cultured in vivid—nuclei are fused together

A

Synkaryon

127
Q

Presence or absence of each chromsome, with presence or absence of each gene product

A

Synteny testing

128
Q

Short segments of DNA with known sequence and location

Use landmarks for mapping

A

DNA Markers

129
Q

Movement of chromosomal segment to a new location in the genome

A

Translocation

130
Q

Synapsis between chromosome with large intercalary deletion and normal complete homolog
Requires unpaired region of normal homolog to loop out linear structure

A

Compensation Loop

131
Q

Repeated segment of chromosome
Single locus is present more than once in genome
Can produce compensation loop
Arise from unequal crossing over between synapses chromosomes during meiosis

A

Duplications

132
Q

Synapsed chromosomes in meiosis wrap around each other

A

Chiasmata

133
Q 
No crossing over between two genes 
Produces parental (non-crossover) gametes
A

Complete Linkage

134
Q

The presence of several genes in an organism’s genome that all have variations of the same function

A

Gene Redundancy

135
Q

The process by which gene sequences are selected and differentially replicated either extrachromosomally or intrachromosomally

A

Gene Amplification

136
Q

Rearrangement of linear gene sequence
No loss of genetic info
Segment of chromosome turned 180 degrees within chromosome
Requires 2 breaks in chromosomes and reinsertion inverted segment
May arise from chromosomal looping

A

Inversion

137
Q

Two examples of mitochondria messing up, but phenotype is still normal?

A

Bread mold, yeast

138
Q

Small percent of mutation are a result of nuclear mutations

A

Segregational petites

139
Q

Demonstrate cytoplasmic transmission
Lack mtDNA or lack a portion of it
Mitochondria inherited by both parental cells (not for humans)

A

Neutral petites

140
Q

Mutant and wild type cross gives diploid zygotes

Express petite phenotype

A

Suppressive mutation

141
Q

Mitochondria and chloroplasts arose independently 2 billion years ago from free-living bacteria
Organelles possessed attributes of aerobic respiration and photosynthesis

A

Endosymbiotic Theory

142
Q

Inverted and noninverted chromosomes in meiosis paired only if they form an inversion loop

A

Inversion loops

143
Q

Organisms with one inverted chromosome and one non-inverted homolog

A

Inversion Heterozygotes

144
Q

One recombinant chromatid is dicentric (2 centromeres) and one is acentric (lacking a centromere)

A

Paracentric inversion crossover

145
Q

Crossover between pericentric inversion and noninverted homolog
Recombinant chromatids have duplications and deletions

A

Pericentric inversion crossover

146
Q

Three sets of chromosomes are present

A

Triploid

147
Q

Involves exchange of segments between two nonhomologous chromosomes
Genetic information is lost or gained
Has unusual synapsis configuration during meiosis

A

Reciprocal translocation

148
Q

The gain of a single chromosome, 2n+1

A

Trisomy

149
Q

The number of trinucleotide repeats increases with generations

A

Genetic Anticipation

150
Q

Gives rise to chromosomal variation
Paired homologs fail to disjoin during segregation
During meiosis I or II

A

Nondisjunction

151
Q

More than two sets of chromosomes are present

A

Polyploidy

152
Q

Complete haploid sets of chromosomes are present

A

Euploidy

153
Q

Variations in chromosome number

Organisms gain or lose one or more

A

Aneuploidy

154
Q

Segregation pattern at first meiotic division

Has complete complement of genetic information

A

Alternate segregation

155
Q

Leads to gametes containing duplications and deficiencies
If these participate in fertilization in animals the resultant offspring do not usually survive
Parent is said to have semisterility

A

Adjacent segregation

156
Q

Sister chromatids involved in mitotic exchanges

Patch-like appearance when stained and viewed under a microscope

A

Harlequin chromsomes

157
Q

Occur during mitosis but do not produce me alleic combinations

A

Sister chromatid exchanges

158
Q

Short repetitive sequences found throughout the genome

A

Micro satellites

159
Q

Polymorphic sites generated when specific DNA sequences are recognized and cut by restriction enzymes

A

Restriction fragment length polymorphisms: RFLP’s

160
Q

Exists in eukaryotes as double-stranded circular DNA
Smaller than DNA in chloroplasts
Size varies based on species

A

mtDNA- mitochondrial DNA

161
Q

Genes encode products involved in photosynthesis and translation

A

cpDNA- chloroplast DNA

162
Q

Variations in the DNA within organelles such as mitochondria and chloroplasts within the same cell

A

Heteroplasmy

163
Q

1% recombination between two genes on chromosomes

Relative distances, not exact

A

Map Units

164
Q

3 X chromosomes
Normal set of autosomes
Results in female differentiation
Perfectly normal or underdeveloped secondary sex characteristics

A

47, XXX Syndrome

165
Q

Missing regions of chromosomes
Chromosome breaks in one or more places
Portion is lost

A

Deletions

166
Q

Does change lengths of two arms of a chromosome, centromere is part of inverted segment

A

Pericentric inversion

167
Q

More susceptible to chromosome breakage when cultured in the absence of folic acid or other chemicals
Sites indicate regions of non tightly coiled chromatin

A

Fragile Sites

168
Q

Involves breaks at extreme ends of short arms of two nonhomologous acrocentric chromosomes
Small segments are lost
Large submetacentric or metacentric chromosome produced

A

Robertson translocation (centric fusion)

169
Q

Combination of chromosome sets from different species as a consequence of hybridization

A

Allopolyploidy

170
Q

Occurs between two nonsister chromatids
Recombination is observed in 50% of gametes
In genes 50 mu apart, crossing over can be expected between 100% of tetrads

A

Single Crossover

171
Q

Condition where only certain cells in a diploid organism are polyploid
Set of chromosomes replicates repeatedly without nuclear division
Can occur in cancer cells

A

Endopolyploidy

172
Q

Addition of one or more sets of chromosomes identical to the haploid complement of the same species

A

Autopolyploidy

173
Q

Doesn’t change lengths of two arms of a chromosome

A

Paracentric Division

General Genetics (Molgen 4500) (1 decks)

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