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Genetics Exam 1 Flashcards

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1
Q

Three Fundamental Areas of Genetics

A

Transmission, Molecular, and Population

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2
Q

Transmission Genetics

A

Study of how traits are passed down from generation to generation

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3
Q

Molecular Genetics

A

Study of structure, function, and regulation of genes at the molecular level

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4
Q

Population Genetics

A

Study of allele and genotype frequencies, how they change over time and the factors contributing to these changes

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5
Q

Gregor Mendel discovered….

A

The fundamental principles of heredity by breeding garden peas

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6
Q

Bateson introduced…

A

The term “Genetics” and study of inheritance and co-founded the journal of genetics in 1910

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7
Q

Walter Sutton and Theodor Boveri…

A

Hypothesized chromosomes as hereditary material

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8
Q

Thomas H. Morgan…

A

Demonstrated how chromosomes as hereditary material experimentally

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9
Q

Edward Tatum & George Beadle…

A

Demonstrated that genes encode enzymes that perform metabolic functions - the “one-gene-one-enzyme model

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10
Q

Alfred Hershey and Martha Chase…

A

Demonstrated DNA as a hereditary unit

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11
Q

James Watson and Francis Crick…

A

Determined the structure of DNA

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12
Q

Francis Crick…

A

Also introduced “central dogma” - flow of DNA to RNA

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13
Q

Francois Jacob and Jacques Moriod…

A

Found genes have regulatory elements that control gene expression

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14
Q

Marshall Nirenberg….

A

Determined how DNA nucleotides code for amino acids

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15
Q

Fred Sanger…

A

Developed methods to determine nucleotide sequences of DNA

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16
Q

Human Genome Project

A

International consortium published the first sequence of the human genome in 2001

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17
Q

Jennifer Doudna and Emmanuelle Charpenter…

A

Developed genome editing with the CRISPR-Cas9

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18
Q

Applications of Genetics

A

Medicine, plant and animal breeding systems, agriculture, forensics, conservation biology, origin of modern humans and evolution

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19
Q

Gene Therapy

A

Inserting normal genes into cells that have missing or defective genes that treat or cure diseases

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20
Q

Conservation Genetics

A

popular genetics theory to prevent the extinction of animal species

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21
Q

Model Organisms

A

Non-human species that is used regularly in experimental research to study particular biological phenomena with the expectation that the results will apply to other species

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22
Q

Key Characteristics of Model Organisms

A
  1. Small species that are easy and inexpensive to maintain
  2. Short generation times and experimental crosses
  3. Small genome
  4. Easy to breed in captivity
  5. Organisms that produce a large # of offspring
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23
Q

Examples of Model Organisms

A

Bacterial: e.Coli
Eukaryotic: Yeast cells
Fungal: Neurospora crassa
Plant: Arabidopsis Thalina
Animal Models: Flies, mice, monkeys, frogs, chickens etc.

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24
Q

Traits (or Characteristics)

A

Individual biological properties of an individual or species

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25
Q

Phenotypes

A

Alternate types of traits

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26
Q

Wild Type

A

Phenotype usually found in nature

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27
Q

Mutant

A

Heritable variants that differ from the “Wild Type” - an “Abnormal” trait. They arise from wild types as a result of mutations

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28
Q

7 Phenotype Pairs Studied by Mendel

A

Round or Wrinkled Seeds
Yellow or Green Seeds
Purple or White Petals
Inflated or Pinched Pea Pods
Green or Yellow Unripe Pods
Axial or Terminal Flowers
Long or Short Stems

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29
Q

True-Breeding

A

“Pure Line” plants, those that produce offspring of the same variety when they self-pollinate

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30
Q

Hybridization

A

“Cross-Pollination” plants, mating between two true-breeding varieties; wild-type crossed with a mutant

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31
Q

P- Generation

A

“Parental” Generation; true-breeding generation

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32
Q

F1 Generation

A

1st filal generation; the hybrid offspring

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33
Q

F2 Generation

A

2nd filal generation; offspring from an F1 and F1 hybrid

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34
Q

Mendel’s Additional Observations

A
  • One phenotype disappeared in the F1 generation
  • Missing phenotype reappears in F2 generation
  • 3:1 ration of parental phenotypes
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35
Q

Dominant Trait

A

A trait fully expressed in crosses between two true-breeding types

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36
Q

Recessive Trait

A

A trait that is not expressed in crosses between two true-breeding types

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37
Q

Backcross

A

Mating between an F1 hybrid and one parental type - resulted in a 1:1 cross

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38
Q

Zygote

A

Fertilized Egg

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39
Q

Genotype

A

Combo of alleles underlying a phenotype

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40
Q

Homozygote

A

An organism with 2 identical alleles for a gene

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41
Q

Heterozygote

A

An organism with 2 different alleles for a gene (not true-breeding)

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42
Q

Gene

A

Heredity factor necessary for production of a trait - for each trait, an organism inherits two copies of a gene, one from each parent

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43
Q

Allele

A

Alternative variations of genes - the dominant allele determines an organism’s appearance

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44
Q

Mendel’s Law of Segregation

A

2 alleles for a heritable characteristic separate during gamete formation and end up in equal # of gametes - at fertilization, gametes fuse at random, results in predictable phenotypic rations

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45
Q

Somatic Cell Division

A

Division of cells in the body - products are exact copies of the parent cells

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46
Q

Mitosis

A

Division of the nuclear material of somatic cells
Interphase -> Prophase -> Metaphase -> Anaphase -> Telophase -> Daughter Cells

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47
Q

Diploid Cells

A

They have two copies of each chromosome

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48
Q

Sexual Cell Divsion

A

Division of specialized cells called melocytes, in the sex organs
- Products are haploid

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49
Q

Haploid Cells

A

Half the number of chromosomes as the parent cell - only one copy of each set of chromosomes

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50
Q

Gametes

A

Reproductive cells of animals & some plants (eggs and sperms)

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51
Q

Meiosis

A

Division of the nuclear material of sex cells

52
Q

Stages of Meiosis

A

Interphase -> Prophase -> Metaphase 1 -> Anaphase 1 -> Telophase 1 -> Prophase 2 -> Metaphase 2 -> Anaphase 2 -> Telophase 2 -> 4 Haploid daughter cells

53
Q

Interphase

A

Proceeds Meiosis
cell growth
DNA synthesis - DNA condenses into chromosomes
Forms sister chromatids attached at the centromere

54
Q

Prophase 1

A

Chromosomes pair; crossing over occurs
Exchange of genetic material between chromosomes
Spindle microtubules form
Centrioles move to opposite poles
Nuclear membrane breaks down

55
Q

Metaphase 1

A

Pairs of homologous chromosomes lineup at metaphase plate
Chromosomes lineup independently of how they were inherited (Mendel’s Law of Assortment)

56
Q

Anaphase 1

A

Homologous chromosomes separate
Pulled to opposite poles
Sister chromatids remain attached at the centromere

57
Q

Telophase 1

A

Each half of the cell has a haploid set of duplicated chromosomes
Each chromosome has two sister chromatids
The nuclear membrane forms here
Cytokinesis happens here

58
Q

Cytokinesis

A

Division of the cytoplasm into 2 daughter cells

59
Q

Prophase 2

A

Sister chromatids are still paired
Spindle microtubules form
Centrioles move to opposite poles
Nuclear membrane breaks down

60
Q

Metaphase 2

A

Sister chromatids are arranged at the metaphase plate
They are connected to the centrioles by microtubules

61
Q

Anaphase 2

A

Sister chromatids separate and move toward opposite poles

62
Q

Telophase 2 & Cytokinesis

A

Chromosomes arrive at the opposite poles
Nuclei form
Chromosomes begin descending into chromatin
Cytokinesis separates the cytoplasm

63
Q

Final Products of Meiosis

A

Results in 4 haploid daughter cells
Each daughter has a single set of chromosomes
Each daughter cell is genetically distinct

64
Q

Chromosomal Theory of Inheritance

A

Genes are found at specific locations on chromosomes
Proposed by Walter Sutton in 1903 and Theodor Boveri and demonstrated in 1910 by Thomas Morgan

65
Q

Mendel’s Law of Segregation

A

The two alleles for a hertiable character separate during gamete formation and end up in different gametes

66
Q

Single-Gene Inheritance in Haploids

A

Daughter cells are identical to parental cell

67
Q

Binary Fission

A

Cell division by replication and the daughter cells are genetically identical to the parent cell - happens in prokaryotes

68
Q

Molecular Mechanism

A

“Purple” allele codes for an enzyme that functions in the synthesis of purple pigment, “white” allele does not code for pigment synthesis and as long as on functional copy of “purple” allele is present then purple pigment is produced

69
Q

Anatomy of a Gene

A

Prometer
5’-UTR
Coding Region
Start Codon
Exon
Active Site
Intron
Stop Codon
3’-UTR

70
Q

Prometer

A

Signals the transcription start point

71
Q

5’-UTR

A

Untranslated region not translated to proteins

72
Q

Coding Region

A

Contains genetic information that will be translated

73
Q

Start Codon

A

Initiates translation (AUG)

74
Q

Exon

A

Sequences within DNA that are translated into proteins (coding regions) the active site is here

75
Q

Active Site

A

Codes for the region of an enzyme where substrate molecules bind and undergo a chemical reaction

76
Q

Introns

A

Sequences within DNA that are not translated into proteins (non-coding regions)

77
Q

Stop Codon

A

Terminates translation (UAA, UAG, UGA)

78
Q

3’-UTR

A

Signals end of transcription and the site for RNA processing

79
Q

3 Kinds of Mutations

A

Null = Non-functional
Leaky = Partially functional
Silent = No change

80
Q

+

A

Used to denote wild-type in a Punnett square

81
Q

Alb

A

Mutant albino allele

82
Q

Haplosufficient

A

One gene copy has enough function to produce the wild type phenotype

83
Q

Haploinsufficient

A

One gene copy is not enough to function sufficiently to produce wild type

84
Q

Codominant

A

One gene copy has enough function to produce an intermediate phenotype but is insufficient for producing the wild type

85
Q

Testcross

A

Mate individual of unknown heterozygosity with a fully recessive individual

86
Q

Sex-Linked Genes

A

X,X = Female characteristics
X,Y = Male characteristics

87
Q

Homogametic

A

Two copies of the same sex chromosome (X,X)

88
Q

Heterogametic

A

One copy of each sex chromosome (X,Y)

89
Q

Hemizygous

A

“Half-Zygous” - only one copy of X so it cannot be homo or heterozygous

90
Q

Pseudo autosomal Regions

A

Homologous regions on the X and Y chromosomes
Facilitates pairing of X and Y during meiosis
Crossing over can occur

91
Q

Sex Determination

A

XY system is not the only chromosomal system of sex determination
Ex. Turtles sex is determined by the temperature during development in the egg

92
Q

Pedigree Analysis

A

Many human diseases are caused by mutations in single genes

93
Q

Pedigree

A

A family tree that describes the inheritance of a trait across generations
Can be used to predict the probability that an offspring will have a given trait
Infer single-gene inheritance

94
Q

Autosomal Recessive

A

Two normal parents may have an affected child, frequently show “skipped” generation, more frequent among children of incest

95
Q

Inheritance of Autosomal Dominant

A

Every affected individual has at least one affected parent; both males & females can be affected; does not skip generations

96
Q

Monohybrid

A

Heterozygous for a single gene under study

97
Q

Monohybrid Cross

A

Mating between two individuals that are heterozygous for a single gene

98
Q

Dihybrid

A

Double heterozygote; heterozygous for 2 genes under study (aka comparing round vs wrinkly and yellow vs green)

99
Q

Dihybrid Cross

A

Mating between 2 double heterozygotes

100
Q

The Product Rule

A

The probability of independent events occurring together is the product of their individual probabilites

101
Q

Meiotic Recombination

A

Meiotic process that generates a haploid product with new combinations of the alleles carried by the haploid genotypes that unite to form the meiocyte

102
Q

Recombinant

A

Gametic type (meiotic output) that differs from either parental type (meiotic input)

103
Q

Quantitative Characters

A

Traits that vary in a population along a continum

104
Q

Polygenic Trait

A

A trait influenced by multiple genes

105
Q

Polygenes

A

The interacting genes underlying hereditary continuous variation (they are on different chromosomes and show independent assortment)

106
Q

Mitochondria

A

Found in all Eukaryotic cells, are sites of cellular respiration, the metabolic process that uses oxygen to generate ATP

107
Q

Chloroplasts

A

Found in plants and algae, are the sites of photosynthesis, the process that converts solar energy to chemical energy

108
Q

Sites of mitochondrial DNA mutations implicated in certain human diseases

A

Mitochondrial diseases will be passed from mother to all her children and her daughter’s children.
Diseases will continue to be inherited along the maternal lineage in future generations.

109
Q

Mitochondrial Replacement Therapy

A

Replaces mitochondria containing disease-causing mutations with “healthy” mitochondria.

110
Q

Pronuclear transfer

A

Repair is done after fertilization.
In vitro fertilization of both recipient’s egg and donor’s egg (sperm from the same father)
Fertilized nucleus removed from recipient’s egg and the donor’s egg
Recipient’s nucleus inserted into enucleated donor’s egg containing healthy mitochondria
After checking for mitochondrial mutations, blastocyst is implanted in recipient’s uterus

111
Q

Maternal spindle transfer

A

Repair is done before fertilization
Unfertilized nucleus removed from recipient’s egg and donor’s egg
Recipient’s unfertilized nucleus inserted into enucleated donor’s egg containing healthy mtDNA
In vitro fertilization
After checking for mitochondrial mutations, blastocyst is implanted in recipient’s uterus

112
Q

Polar body transfer

A

Repair is done before fertilization
Unfertilized nucleus removed from donor’s egg
Polar body extracted from recipient’s unfertilized egg
Polar body inserted into enucleated donor’s egg containing healthy mtDNA
In vitro fertilization
After checking for mitochondrial mutations, blastocyst is implanted in recipient’s uterus

113
Q

Risks of Mitochondrial Replacement Therapy (MRT)

A

Procedures may cause damage that is not well understood.
Maternal mitochondria will be carried over to the donor egg (minor risk: < 2% carried over)
Eggs may mature abnormally
Adverse “mito–nuclear” interactions (no data in support of this theoretical risk)
Limited studies in large animal models

114
Q

Linked genes

A

Occur on the same chromosome.
Linked alleles tend to be inherited together—they are physically joined.
Results in a deviation from Independent Assortment

115
Q

Chiasmata

A

Are the sites of crossing over

116
Q

Barbara McClintock & Harriet Creighton…

A

1931—early evidence that crossing over involves breakage-and-rejoining of DNA

117
Q

Multiple crossovers

A

Crossovers can occur at multiple sites
Multiple crossovers can only be detected when studying three or more linked genes
Multiple crossovers can include two or more chromatids

118
Q

Gene Mapping by Recombinant Frequency

A

The farther apart two genes are, the higher the probability that a crossover will occur between them and therefore the higher the recombination frequency

119
Q

Genetic Map

A

An ordered list of the genetic loci along a particular chromosome

120
Q

1 genetic map unit (m.u.)

A

The distance between genes for which 1% of gametes (products of meiosis) are recombinants.

121
Q

Recombinant Frequency (RF)

A

Frequency of observed recombinants
𝑅𝑒𝑐𝑜𝑚𝑏𝑖𝑛𝑎𝑛𝑡 𝑓𝑟𝑒𝑞𝑢𝑒𝑛𝑐𝑦= (𝑁𝑢𝑚𝑏𝑒𝑟 𝑜𝑓 𝑟𝑒𝑐𝑜𝑚𝑏𝑖𝑛𝑎𝑛𝑡𝑠)/(𝑇𝑜𝑡𝑎𝑙 𝑛𝑢𝑚𝑏𝑒𝑟 𝑜𝑓 𝑜𝑓𝑓𝑠𝑝𝑟𝑖𝑛𝑔)
answer x 100 for m.u.

122
Q

Single nucleotide polymorphisms (SNPs)

A

Variation in a single base pair in a DNA sequence

Allele 1: AGGCATTA
Allele 2: AGGTATTA

123
Q

Microsatellites

A

Variable number of short sequence repeats (alleles vary in number of repetitive units)

Allele 1: CTCTCTCT (4 repeats)
Allele 2: CTCTCT-- (3 repeats)
Allele 3: CTCT---- (2 repeats)
124
Q

Recombination-based map

A

Map the relative loci of genes based on recombination frequencies

125
Q

Physical maps

A

Map genes as segments arranged along the DNA molecule constituting a chromosome

126
Q

Chi-square (χ2) test

A

A statistical test used to determine the probability of obtaining observed proportions by chance
Compares observed values with those expected under a given hypothesis (e.g., independent assortment)
“χ” ^2=∑▒〖(𝑂_𝑖−𝐸_𝑖)〗^2/𝐸_𝑖

Genetics (1 decks)

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