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Human Variation > MidTerm 1 > Flashcards

MidTerm 1 Flashcards

1
Q

Evolution

A

development of a population of living organisms over time with changes in their form; populations not individuals; over generations

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2
Q

Evidence for Evolution

A

Scientific Method
Age of Earth
Adaptation
Descent with Modification

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3
Q

Scientific Method

A

belief/idea; observations; hypothesis; testable predictions; data gathering; refine; develop theories

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4
Q

Age of Earth

A

4.6 Billion years old; radiometric/relative dating

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5
Q

Adapation

A

traits that make organism capable of dealing with environment

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6
Q

Darwin’s Finces

A

Beaks changes over time according to available food source (evidence of adaptation)

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7
Q

Speciation

A

formation of new/distinct species in course of evolution

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8
Q

Artificial Selection

A

breeder chooses individuals with specific characteristics

i.e Dog breeding; Russin Fox experiment; Corn domestication

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9
Q

Phylogeny

A

Evolutionary development/diversification of species/ group/ feature; ancestral traits and structures can be used to explain evolutionary relationships

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10
Q

Homologous Structurs

A

similar in form, not function

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11
Q

Vestigial Structures

A

parts without function

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12
Q

Transitional Structures

A

species with mix of current and past traits

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13
Q

Embryology

A

similar embryonic structures due to shared ancestry

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14
Q

Paleontology

A

study of fossils

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15
Q

Robert Hooke

A

Invented microscope/ “cell”; studies fossilized & living cork. Proved continuity between past and present fossil forms

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16
Q

George Cuvier

A

Studies fossils in the Paris Basin; Catastrophism; extinction events (Mastodon v African Elephant)

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17
Q

Catastrophism

A

cataclysmic events responsible for geological/fossil formation changes

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18
Q

Taxonomy

A

classification of past and living fossils/organisms

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19
Q

Linnaeus

A

Created Linnaen taxonomy; taxonomic order which allowed grouping of similar organisms

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20
Q

Linnaeus Taxonomy

A

Species; genus; family; order; phylum; kindgom

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21
Q

Geology

A

study of Earth and natural forces

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22
Q

James Hutton

A

Studies how land surfaces changed due to forces; studies geological strata; uniformitarianism

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23
Q

Uniformitarianism

A

natural process today as it was in past

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24
Q

Demography

A

study of influences which illustrate changing structure of human population

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25
Q

Thomas Malthus

A

human population is limited by food supply

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26
Q

Development of Evolutionary Theory

A

Paleontology, Taxonomy ,Geology, Demography, Biology

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27
Q

Jean-Baptist Lamark

A

believed higher level organisms could acquire positive changes in form; Inheritance of Acquired Characteristics; differential body parts; environment affects organisms traits leading to a different behavior

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28
Q

Inheritance of Acquired Characteristics

A

traits acquired over lifetime and passed down

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29
Q

Alfred Russel Wallace

A

Wrote to Darwin, encouraging Darwin to publish

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30
Q

Charles Darwin

A 
Theory Of Evolution by Natural Selection
Trait variation is random
Traits are heritable
Over population/ competition
Differential reproductive success
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31
Q

Science

A

Change over time/ Descent with Modification
Common Ancestor
Earth is about 4.6 billion years old
Organisms aren’t perfect

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32
Q

Religion

A 
Religious doctrine/ Creationism
Earth is only around 6,000 years old
Great Chain of Being
Species Unchanged and fixed
Intelligent Design
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33
Q

Intelligent Design

A

Complex beings such as humans cannot have been due to random chance, must have had a creator

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34
Q

Gregor Mendel

A

Discovered basic principles of heridity

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35
Q

Generations: P, F1, F2

A

P: true breeding
F1: first level offspring
F2: second generation

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36
Q

Heritable

A

transmission of traits from one generation to next

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37
Q

Gene

A

unit of inheritance, codes for protein, located on chromosome

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38
Q

Genotype

A

genetic/ allele of orgamisn

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39
Q

Phenotype

A

Physical expression of gene

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40
Q

Locus

A

location of a gene on a chromosome

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41
Q

Allele

A

Alternative version of a gene

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42
Q

Dominant

A

allele that is fully expressed

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43
Q

Recessive

A

Allele that is not expressed

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44
Q

Mendel’s Experiment Conclusions

A

Law of Dominance; Law of Segregation; Law of Independent Assortment

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45
Q

Law of Dominance

A

when two different alleles for a gene are present, the allele that is dominant will be phenotypically expressed

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46
Q

Law of Segregation

A

Each allele segregates into separate gametes, each carrying one allele for each gene; each gamete only carries one allele for each gene

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47
Q

Law of Independent Assortment

A

Random orientation of homologous chromosomes during Metaphase 1, each pair of alleles on separate chromosomes segregate independently

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48
Q

Complete Dominance

A

dominant trait always fully expressed

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49
Q

Incomplete dominance

A

neither allele is completely dominant; phenotype is between both parents; genotype distinct

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50
Q

Codominance

A

Both alleles expressed separately

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51
Q

Blending Inheritance

A

offspring characteristics are a blend of both genotypes

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52
Q

Polygenetic Inheritance

A

additive effect of more than one gene; affect phenotypic expression; multigenes for one effect

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53
Q

Pleiotyophy

A

when one gene effects more than one phenotypic character

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54
Q

Epistasis

A

Phenotypic expression of one locus alters effect on a second locus

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55
Q

Mendelian Genetics and Disease

A 
single gene
variability
autosomal dominant/recessive
minimal environmental influences
due to complications in either the gene or protein function
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56
Q

Complex Genetic Disease

A

Polygenic
common
variable modes of inheritance
affected by environmental influences

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57
Q

Autosomal Recessive Disease

A

recessive allele of gene that causes genetic disorder; common (aa - disease; Aa - carrier; AA - no disease)

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58
Q

Autosomal Dominant Disease

A

only one copy of allele needed to express disease; rare (AA - disease; Aa - disease; aa - no disease)

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59
Q

Cystic Fibrosis (autosomal recessive)

A

1/2500 Europeans 4% carriers; Defective gene on chromosome 7 - CFTR and causes a 3 base pair deletion; causes mucus buildup

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60
Q

Huntington’s Disease

A

1/1000 in US 50% chance of inheriting if parent is affected; deterioration of nervous system with late onset (autosomal dominant); 2 repeats of CAG on chromosome 4

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61
Q

Genetic Counseling

A

genetic testing developed for most simple Mendelian genetic disease

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62
Q

Pedigre analysis

A

displays family tree and affected family members

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63
Q

Amniocentesis

A

prenatal diagnosis of chromosomal abnormalities and fetal infection; amniotic fluid

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64
Q

Chorionic Villus Samplig

A

prenatal tests that show/diagnose chromosomal abnormalities; placenta

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65
Q

From Darwin/Mendel to DNA

A

Watson, Crick, and Franklin

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66
Q

Watson

A

bacterial genetics

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67
Q

Crick

A

Physicist

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68
Q

Franklin

A

x-ray and chemist; allowed us to look at structure of DNA

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69
Q

DNA Structure/Found/Bases

A

Structure: double helix; sugar-phosphate backbone
Found: in nucleus
Bases: Adenine to Thymine; Guanine to Cytosine

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70
Q

Human Genome

A

All chromosomal DNA; 3.2 billion bases

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71
Q

Central Dogma of Molecular Genetics

A

DNA - RNA - Protein

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72
Q

Modern Evolutionary Synthesis

A

Julian Hurley
Genes responsible for inheritance
Pop. not individuals evolve
Speciation due to gradual accumulation of small changes
multiple mechanisms for evolution: nat select, genetic drift, mutation, migration
DNA basis of heredity and variation

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73
Q

Darwin’s Evolutionary

A

Mechanisms for evolution: natural selection

Didn’t know basis of heredity or variation

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74
Q

Nuclear DNA

A 
located in nucleus; contains two sets of 23 chromosomes
Biparental inheritance
Double Helix
Chromatic structure
Crossing over/ recombination
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75
Q

Chromosomal DNA

A

Autosomal
3.2 billion base pairs
22 pairs of chromosomes

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76
Q

Mitochondrial DNA

A 
plasmid
16000 base pairs
no chromatin
circular
no crossing over or recombination
each mitochondria can have several copies of the same mtDNA
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77
Q

Human Genetic Material

A

Chromosomal and Mitochondiral DNA

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78
Q

Chromosome

A

made of two identical chromatds

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79
Q

chromatid

A

2 per chromosome
identical
split during replication

80
Q

Telemore

A

ends of chromosome; contain Tandem repeats (repeating sequences: TTAGGG) which don’t get coded

81
Q

Human Genetic Structural

A

Linear
Nucleosome: first level of compaction; mainly histones
Solenoid: helix with 6 nucleosomes per turn
Higher Order: loops of 30 nm fiber around central scaffold

82
Q

Heterochromatin

A

Highly compact

transcriptionally inactive

83
Q

Euchromatin

A

less compact

more heavily transcriptionally active

84
Q

Mitochondrial DNA Mutation rate

A

higher mutations found than nuclear DNA due to higher levels of oxidative damage from energy production
37 genes
16589 base pairs

85
Q

Endosymbiotic Theory

A

mtDNA was once independent prokaryotes that were englufed

86
Q

Haplotype

A

group of mutations

87
Q

Haplogroup

A

groups of similar patterns of haplotypes

88
Q

mtDNA Summary

A 
found in mitochondria
each can have several copies of same mtDNA
maternal inheritance
circular
no chromatin
no crossing over/recombination
89
Q

Nuclear DNA Summar

A 
found in nucleus
2 sets of chromosomes
biparental inheritance 
chromatic structure
crossing over and recombination
90
Q

RNA

A

single stranded nucleic acid

91
Q

mRNA

A

carries instructions to make proteins

92
Q

tRNA

A

3 base pair anti-codon sequence with corresponding amino acid attached; assembles amino acids based on mRNA sequence

93
Q

RNA Bases

A

G, C, A, U (A - U) (T - A) (G - C)

94
Q

RNA Polymerase

A

binds to DNA template strand

95
Q

Introns

A

noncoding sections of RNA; gene expression

96
Q

Exons

A

coding sections of RNA

97
Q

RNA Splicing

A

Introns removed; produces final mRNA sequence

98
Q

Alternative Splicing

A

exons spliced; can have different arrangement of exons

99
Q

Proteins

A

chains of amino acids

100
Q

Amino Acids

A

building blocks of cells; translated from RNA codons

101
Q

RNA Codons

A

transcribed from DNA sequence

102
Q

Codons

A

Series of three nucleotides in a row which code for one amino acid
Used by mRNA in transcription
64 different combinations

103
Q

Anti-Codons

A

complimentary nucleotide sequence of three base pairs

Used by tRNA

104
Q

Polypeptide

A

chain of amino acids

105
Q

Start Codon

A

Begin translation; AUH, GUG, UUG

106
Q

Stop codon

A

End translation: UGA, UAA, UAG

107
Q

From DNA to Amino Acid

A

DNA is transcribed to RNA which is translated to a protein

108
Q

Process of Transcription

A

Carrying a message of protein instructions
1. DNA strands separate
2. RNA polymerase binds to DNA template strand
3. Produces pre-messenger RNA (mRNA)
(Complimentary pairing; U instead of T)
4. RNA splicing
5. mRNA exits nucleus

109
Q

Translation

A

Creation of polypeptide chains of Amino Acids
1. Ribosomes bind to mRNA in cytoplasm
2. Ribosomes match mRNA codons to anti-codons
3. Two tRNA enter ribosome
4. Amino acids attached to tRNAs connect
tRNAs without amino acids and mRNA codons exit ribosome
At end of mRNA strand, ribosome detaches

110
Q

Genetic Variation

A 
Structural Variants
Transposons
Minisatellites
Microsatellites
Single Nucleotide Polymorphisms
111
Q

Structural Variants

A

variation in gene number (copies/deletions/insertions)

112
Q

Amylase (AMY 1) Gene Copy; ex. of structural variants

A

enzyme acids in starch digestion; correlated with amylase protein production; populations with higher starch diets have more enzymes

113
Q

Transposons

A

Mobile and can move to other sections of genome; important for understanding human genetic diversity; more diversity = longer existence

114
Q

ALU Insertion; ex. of transposon

A

300 bases long; more than 1 million in human genome

small part of its polymorphic has changes

115
Q

Minisatelites

A

repeating segments of DNA nucleotides (6-100 in length)

variable between humans and populations

116
Q

Telomere Tandem Repeats; ex. of minisatellites

A

can measure many locations in genome

117
Q

DNA Fingerprint

A

identifying individuals by DNA Patterns

118
Q

Microsatelities/ Short Tandem Repeats

A

repeating nucleotides; 2-3 bases long
Variability in number of repeats
relatedness and diversity

119
Q

Single Nucleotide Polymorphism

A

changes in single nucleotide (deletion/ insertion/ mutation); serve no effect

120
Q

Straitgraphy

A

different colors of rocks; showing relative position of strata and their relationship to the geological time scale

121
Q

Darwin’s Theory of Evolution by Natural Selection

A

Variation in traits in a population; random
Traits are heritble
Overpopulation & Competition
Differential reproductive success

122
Q

Descent with Modification

A

speciation

artificial selection

123
Q

Special Creationism

A 
species are immutable
each created individually
species all present at the beginning and now
no common ancestor
Earth is less than 10,000 years old
124
Q

Analogous Structures

A

forms differ in anatomy but are similar in function

125
Q

Heritability

A

transmission of traits from one generation to the next

126
Q

Chromatin

A

Unwoven DNA/ protein complex

127
Q

Karyotypes

A

arrangement of chromosomes by size and structure

128
Q

Centromere

A

region where mitotic spindles attach to the homologous chromosome

129
Q

Metacentric

A

centromere near middle

130
Q

Telocentric

A

centromere near the end

131
Q

Telomere

A

ends of chromosomes (contain tandem repeats)

132
Q

Histones

A

small basic proteins

133
Q

Mutation

A

any heritable change in structure or amount of genetic material; only source of new genetic material

134
Q

Selection

A

Individuals with advantageous characteristics will survive in higher number and produce more offspring; acts on phenotypes not genotypes

135
Q

Chromosome

A

long stand of tightly coiled DNA

136
Q

5 Forces of Evolution

A 
Mutation
Selection
Genetic Drift
Gene Flow/Migration
Assortative Mating
137
Q

Assortative Mating

A

Non-random mating; purposefully selecting mates based on presence or absence of traits

138
Q

Positive Assortative Mating

A

choosing mates based on similar phenotypes

139
Q

Negative Assortative Mating

A

Choosing mates based on dissimilar phenotypes

140
Q

Point Mutation

A

Change in a single base pair

141
Q

Synonymous Point Mutation

A

point mutation that does result in an amino acid change

142
Q

Non-Synonymous Point Mutation

A

Point mutation that does not result in an amino acid change

143
Q

Frameshift mutations

A

insertion or deletion of base pair that results in a rearrangement of sequencing triplets

144
Q

Transposable Elements; Insertion into non-coding

A

no effect

145
Q

Transposable Elements; Insertion into coding

A

can lead to non-functioning proteins

146
Q

Sexual Selection

A

adaptations to make an organism more likely to attract a mate

147
Q

Zygote

A

produces variation through meiosis; offspring have unique combination of genes inherited by both parents

148
Q

Mitotic Spindle

A

Microtubules that attach to chromosomes to separate them

149
Q

Kinetochore

A

protein shell that forms around a centromere where microtubules attach

150
Q

Nuclear Envelope

A

membrane that forms around genetic material

151
Q

Cohesion Proteins

A

divide sister chromatids

152
Q

Somatic Cells

A

Body cells that are produced by mitosis (DNA copies into two exact copies of daughter cells)

153
Q

Diploid

A

Cell contains two complete sets of homologous chromosomes (2N = 46 chromosomes)

154
Q

Haploid

A

contain a single set of unpaired chromosomes (N = 23 chromosomes)

155
Q

Gametes

A

Sex cells produced by meiosis; haploid cells

156
Q

Sexual Reproduction

A

Male and female gametes combine, forming zygote, produces variation through meiosis

157
Q

Centrosomes

A

Organizes microtubules (proteins); center point

158
Q

Chaisma

A

site where crossing over occured

159
Q

Independent Assortment of Chromosomes

A

random orientation of homologous chromosomes during metaphase 1; chromosome pairs separate and move to opposite sides of cell

160
Q

Random Fertilization

A

independent assortment and crossing over are random, produces multiple combinations of chromosomes and zygotes

161
Q

Founder Effect

A

Type of genetic drift
When a small group of large population migrates to a new region
Represents a subset of the total parent population diversity

162
Q

Bottleneck Effect

A

Type of genetic drift
When a population size is reduced very quickly
Surviving population can have different allele frequencies
Consequences: can dramatically reduce genetic variation of future populations to adapt to new selection pressures

163
Q

Allele Loss

A

no individual in the population has the allele
0% gene frequency
Allele not passed down to next generation

164
Q

Allele Fixation

A

All individuals in population have the allele state
100% gene frequency; no variation
will continue to produce the same

165
Q

Crossing Over

A

exchange of genetic material; occurs during prophase of meiosis
chromosomes connect along their length and are aligned with corresponding gene

166
Q

Cytokinesis

A

division of the cytoplasm

167
Q

Helicase

A

separates two DNA Strands

168
Q

Binding

A

stabilizing each strand

169
Q

Primase

A

creates RNA strands for DNA polymerase to bind

170
Q

DNA Polymerase

A

assembles nucleotides onto stands

171
Q

Exonuclease

A

removes RNA primers

172
Q

Ligase

A

joins DNA strands together

173
Q

Semi-Conservative

A

conserves half of its DNA to make a copy from one strand

174
Q

Partiocality and mtDNA

A

if bride settles with grooms family then it increases the mtDNA diversity

175
Q

Matrilocality and mtDNA

A

groom settles with brides family then the mtDNA diversity stays the same

176
Q

Examples of Assortative Mating in Human Populations

A

height, redheads, IQ

177
Q

Modern Evolutionary Synthesis

A

(Neo-Darwinism)
Multiple mechanisms for evolution
DNA is basis of heredity and variation
Small changes in DNA (microevolution) lead to larger changes (macroevolution)

178
Q

How DNA replication occurs

A

Occurs during interphase; chromatids copied
1. Helicase separates and unwinds DNA which creates a DNA replication fork
2. Binding proteins prevent strands from rejoining
3. Primase makes RNA templates
4. DNA polymerase binds to RNA templates and adds nucleotides to DNA strand
5 - 3 direction
Leading strand (5 - 3)
Lagging strand ( 3 - 5)
Primase creates RNA primer
DNA polymerase binds to RNA primer, building small fragments
5. Exonuclease - removes RNA primers
6. DNA polymerase fills in gaps from RNA primers in 5 to 3 direction
7. Ligase - joins DNA strands together

179
Q

Okazaki Fragments

A

sequenced from the template DNA on the lagging strand which goes from 3’–>5’ but because the direction of sequencing always has to go from 5’–>3’ the direction of sequencing for the NEW complimentary Okazaki fragment sequence is in the 5’–>3’ sequence.
Sequencing direction always goes from 5’–>3’ direction but the sequencing direction refers to direction that the complementary strand that is being produced NOT the template strands.

180
Q

Synapsis

A

is the pairing of two homologous chromosomes that occurs during meiosis. It allows matching-up of homologous pairs prior to their segregation, and possible chromosomal crossover between them. Synapsis takes place during prophase I of meiosis.

181
Q

Klinefelter’s Syndrome

A

nondisjunction (homologous chromosomes do not separate correctly during meiosis) of sex autosomes, results in XXY of males

182
Q

Directional Selection

A

favors extreme forms of trait and causes an allele frequency shift in one direction

183
Q

Disruptive Selection

A

extreme versions of the trait favors (results in deviant allele frequencies)

184
Q

Stabilizing Selection

A

favors average versions of trait; less allele frequency variation and deviance trait expression)

185
Q

Balancing Selection

A 
Two traits favored; balancing two or more forms of a trait in a population; maintaining polymorphism frequencies
Heterozygote advantage (Aa has higher fitness)
186
Q

Cell Cycle

A

allows multicellular organisms to grow from one cell; replace old cells; renew cell supply

187
Q

Mitosis

A

Prophase; Prometaphase; Metaphase; Anaphase; Telophase

188
Q

Barriers to Gene Flow

A

Environmental
Reproductive timing
Cultural barriers

189
Q

Gene Flow

A

movement of alleles between two populations through breeding

190
Q

Sickle Cell Anemia

A

mutation that results in improper hemoglobin proteins reduce capacity to bind to oxygen; being a carrier helps prevent malaria

191
Q

Genetic Drift & Population Size

A

Depends on population size
Smaller population: greater effect of genetic drift
Larger population: less effect of genetic drift

192
Q

Genetic Drift

A

Random change in allele frequency over time due to chance; can lead to random allelic fixation/loss

193
Q

Gene Flow & Migration

A

movement of alleles between two populations through breeding; caused by migration

194
Q

Insertions/Deletions

A

insertion of deletion of a base pair

195
Q

Fitness

A

fitness of a phenotype depends on how common it is in a population; a higher fitness level = a higher chance at survival to reproduce; 1 is highest

196
Q

Neutral Theory of Evolution: Kiumura

A

Most mutations are neutral so selection does not act upon them

Human Variation (3 decks)

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