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Genes and Genomics > Exam 2- Modification of Medel and Replication > Flashcards

Exam 2- Modification of Medel and Replication Flashcards

1
Q

What is Incomplete Dominance?

A

Phenotype of heterozygote is intermediate between the homozygotes and can be on a continuum

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2
Q

What is Codominance?

A

Phenotype of heterozygote is a mix of both homozygotes

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3
Q

Is Blood Type Determined by 1 or More Alleles?

A

Multiple Alleles

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4
Q

What are the Possible Genotypes of Type A Blood?

A

AA or AO

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5
Q

What are the Possible Genotypes of Type B Blood?

A

BB or BO

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6
Q

What are the Possible Genotypes of Type AB Blood?

A

AB

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7
Q

What are the Possible Genotypes of Type O Blood?

A

OO

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8
Q

What Blood Types can A Blood Receive?

A

A or O

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9
Q

What Blood Types can B Blood Receive?

A

B or O

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10
Q

What Blood Types can AB Blood Receive?

A

A, B, AB, or O

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11
Q

What Blood Types can O Blood Receive?

A

O

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12
Q

What is Lethality?

A

Sometimes specific alleles can be lethal, acquiring two copies of this allele will cause death in the individual

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13
Q

What is Pleitrophy?

A

A mutation in a single metabolic enzyme involved in converting the amino acid sequence phenylalanine to tyrosine.

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14
Q

What Results from Phenylketonuria?

A
  1. Phenylalanine accumulation
  2. Loss of tyrosine (loss of melanin)
  3. Neuronal damage
  4. Intellectual disability
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15
Q

What is Incomplete Penetrance?

A

Genotype does not always produce the expected phenotype

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16
Q

What is Variable Expressivity?

A

The degree to which a trait is expressed

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17
Q

What is Epistasis?

A

Mutation on multiple genes that affect Phenotype. 1 gene has the ability to mask the effect of the other

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18
Q

What Causes Mutant Phenotype?

A
  1. Several mutations in one gene

2. Several different mutations in different genes involved in a phenotype

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19
Q

What is a Complementation Test?

A

Crossing homozygous recessive mutants to produce hybrids to determine if the phenotype is caused by mutations in the same gene

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20
Q

What is Recessive Epistasis?

A

An allele at one locus masks the expression of an allele at a second locus.

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21
Q

What is an Example of Pleitrophy?

A

Phenylketonuria where a mutation in a metabolic enzyme involved in converting phenylalanine to tyrosine occurs

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22
Q

What is an Example of Incomplete Penetrance?

A

Polydactyl individuals with an extra digit

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23
Q

What is an Example of Epistasis?

A

Lab Coat Color

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24
Q

What are the arms of a Chromosome Called?

A

P arm on top

Q arm on bottom

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25
Q

How Many Chromosome Pairs do Humans Have?

A

23 Pairs

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26
Q

How are Diploid Organisms Chromosomes Organized?

A

2 pairs of chromosomes organized as homologous pairs

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27
Q

What is Chromatin?

A

DNA + Nucleoproteins

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28
Q

What Happens at the Centromere of a Chromosome?

A

The Kinetochore forms and the spindle microtubules attach and separate the sisters

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29
Q

What is the Telomere?

A

The end of the chromosome where some segments of DNA are repeated to act as a buffer for the actual DNA. Eventually telomeres shorten and the cells division stops

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30
Q

What does Chromatin do for Cell Division?

A

Condenses into visible chromosomes

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31
Q

What Chromosome Condensing Happens During Interphase?

A

DNA wraps around histone proteins

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32
Q

What Chromosome Condensing Happens During Prophase?

A

DNA wrapped around histones wraps into chromosomes

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33
Q

What is the Nucleosome?

A

8 histone proteins that DNA wraps around

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34
Q

What are the 8 Histone Proteins?

A 
H2A 
H2B 
H3
H4
with 2 copies of each
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35
Q

What Happens to Condense DNA After Histones Wrap DNA?

A

Solenoid fibers form the “30 nm fiber” as the H1 histones form a ring together

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36
Q

What Happens to Condense DNA After the 30 nm Fiber?

A

Loops form to create the 300 nm fiber

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37
Q

What Happens to Condense DNA After the 300nm Fiber?

A

The DNA condenses further into the 250 nm fiber of visible chromosomes

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38
Q

What is Heterochromatin?

A

Densely packed DNA with fewer genes expressed

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39
Q

What is Euchromatin?

A

Less compacted DNA that is actively transcribed

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40
Q

What does N Represent?

A

Number of Different Chromosomes (Haploid Set)

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41
Q

What is 2N?

A

Total number of chromosomes

42
Q

What are the Phases of the Cell Cycle?

A

M, G1, S, G2

mitosis, growth 1, synthesis, growth 2

43
Q

What Happens at the Metaphase Checkpoint?

A

Pass if all chromosomes are on mitotic spindle

44
Q

What Happens at the G1 Checkpoint?

A

Pass if cell size is adequate

45
Q

What Happens at the S Checkpoint?

A

Pass if DNA is replicated successfully

46
Q

What Happens at the G2 Checkpoint?

A

Pass if cell size is adequate

47
Q

What do Cohesion Proteins do?

A

Keep sister chromatids together during prophase, despite the pressure at the kinetochore

48
Q

What Does Separase do?

A

Breaks cohesion polypeptide bonds and creates chromosome disjunction

49
Q

What Cell Cycles Phases are a Part of Interphase?

A

G1, S, and G2

50
Q

What Happens During Prophase?

A

Chromosomes are paired up

51
Q

What Happens During Metaphase?

A

Spindle fibers line chromosomes up

52
Q

What Happens During Anaphase?

A

Sister chromatids are pulled apart

53
Q

What Happens During Telophase?

A

Cell pinches in the middle

54
Q

What are the Phases of Mitosis?

A

Interphase, Prophase, Metaphase, Anaphase, Telophase

55
Q

What does Helicase do?

A

Breaks H bonds between nucleotides and the complementary strand

56
Q

What does DNA Polymerase 3 do?

A

Builds DNA 5’-3’

57
Q

What Does Topoisomerase do?

A

Holds the strands tight so they do not unwind

58
Q

What does Primase do?

A

Makes RNA primers for DNA polymerase

59
Q

What do Single Strand Binding Proteins do?

A

Stop single strand exposure from causing self-attachment

60
Q

What does DNA Polymerase 1 do?

A

Replaces RNA in primers with DNA

61
Q

What does Ligase do?

A

Seals the backbone

62
Q

What Would Happen if DNA Polymerase 1 lost 3’-5’ Exonuclease Activity?

A

No proofreading would occur and nucleotides could be placed incorrectly. this would caused increased mutations

63
Q

What Would Happen if DNA Polymerase 2 lost 5’-3’ Polymerase Activity?

A

RNA would not be converted into functional DNA and DNA would not be placed down. Transcription would not be able to long-term work, there would be large gaps in the DNA

64
Q

What is Euploidy?

A

Any number of sets of chromosomes

65
Q

What is Polyploidy?

A

A cell having more than two sets of chromosomes

66
Q

What is Aneuploidy?

A

Variations in the number of single chromosomes, one chromosome more or less than the diploid number

67
Q

What is Nondisjunction?

A

Failure of one or more pairs of homologous chromosomes or sister chromatids to separate normally during nuclear division, resulting in abnormal distribution of chromosomes in the daughter nuclei

68
Q

What is Down Syndrome?

A

Trisomy in the chromosome 21

69
Q

What is Crossing Over?

A

When genes are transferred between homologous chromosomes, resulting in allele combinations that are different from either parent

70
Q

What are the 2 Situations for Meiotic Recombination?

A

Independent Assortment at the metaphase plate

Crossing over of genes on non-sister chromatids

71
Q

What is the Recombinant?

A

The offspring that has different alleles from either parent

72
Q

What are Parental Types?

A

Phenotypes that reflect a previously existing parental combination of genes that is retained during gamete formation

73
Q

What are Recombinant Types?

A

Phenotypes reflecting a new combination of genes that occurs during gamete formation

74
Q

How do you Tell if Genes are Linked?

A

If the ratio of alleles differ from 9:3:3:1, the genes are linked on the same chromosome

75
Q

What Percentage of Offspring Alleles are Parental and What Percentage are Recombinant? Why?

A

Parents > 50%
Recombinant < 50%
Because crossing over does not happen all of the time, it is more rare than the regular parent alleles forming

76
Q

What are the 2 Hybrids That Can be Created When 2 Genes are Linked?

A

Cis Dihybrid- AB/ab dominant on the same homolog

Trans Dihybrid- Ab/aB dominant on the opposite homolog

77
Q

How do you Calculate the Recombination Frequency?

A

Total # of Recombinants % Total # of Progeny

*100

78
Q

What Controls How Often Crossovers Occur Between Genes?

A

The distance between the genes. The recombination frequency is proportional to the physical length of DNA between the two genes on the chromosome

79
Q

What is a Linkage Map?

A

Using the frequency of recombination to map the genes relative locations on a chromosome

80
Q

What do Linkage Maps Tell us?

A

The distance between genes of interest

81
Q

What is cM?

A

Linkage map unit- unit of measure of recombination frequency, 1cM=1% recombination frequency

82
Q

What is the Null Hypothesis of a Chi Squared Test?

A

The genes are not linked and the observed values are not different enough from the expected

83
Q

What is the Expected Ratio of Offspring for a Testcross?

A

1:1:1:1

84
Q

What is the Degrees of Freedom?

A

of classes - 1

85
Q

What does the Goodness of Fit Test Measure?

A

If the difference between observed and expected results are due to chance or something else at work

86
Q

What are Inversion Heterozygotes?

A

Diploid organisms in which one member of a pair of chromosomes is inverted in gene sequence, and the other is normal.

87
Q

What Phenotype do Inversion Heterozygotes Have?

A

Normal

88
Q

Where do Inversions Occur?

A

Breakpoints in DNA

89
Q

What Happens During Inversion?

A

DNA is disrupted and function of gene is disrupted or fused. No DNA is lost or gained, so it is seen as balanced.

90
Q

What forms Inversion Loops?

A

Paracentric and Pericentric Chromosomes

91
Q

What Happens when Crossing Over Happens Inside the Inversion Loop with Paracentric Chromosomes?

A

dicentric and acentric chromosomes are formed. Dicentric chromosomes break randomly, while acentric chromosomes are lost. RESULTS IS VIABLE AND NONVIABLE GAMETES 50:50 RATIO

92
Q

What Appears Where on an Inversion Loop?

A

The inverted DNA sequence is found inside the loop, but the normal DNA is found outside the loop

93
Q

What is the Difference Between Paracentric and Pericentric Chromosomes?

A

In Paracentric Chromosomes, the centromere location changes, while in Pericentric Chromosomes, the centromere location does not change. Paracentric Chromosomes result in dicentric and acentric chromosomes, while pericentric has one allele inserted in one chromosome,and then deleted in one chromosome

94
Q

How do you Know Which is the Dicentric Chromosome?

A

2 Centromeres

95
Q

How do you Know Which is the Acentric Chromosome?

A

No Centromeres

96
Q

What Happens to the Acentric Chromosome

A

It is lost

97
Q

What Happens to the Dicentric Chromosome?

A

Dicentric bridge forms, causing the chromosome to break randomly into two

98
Q

What is Triploidy?

A

Presence of an additional set of chromosomes

99
Q

What is a Translocation?

A

If a chromosome undergoes DNA breaks and the region of once chromosome can reattach to a non-homologous chromosome

100
Q

What is a Balanced Translocation?

A

Where equal parts of the chromosome are switched so they remain the same size

101
Q

What is a non-balanced Translocation?

A

When Chromosomes unequally switch DNA so they are no longer the same size

102
Q

What is a Robertsonian Translocation?

A

Two non-homologous chromosomes fuse, reducing chromosome number and creating an extremely large and a potentially very small chromosome

Genes and Genomics (7 decks)

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