Chapter 2 Flashcards

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1
Q

What are two examples of pre-Mendelian hypotheses of inheritance?

A

Pangenesis and blending hypothesis

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2
Q

This theory of inheritance was proposed by Hippocrates in 400 BC

A

Pangenesis

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3
Q

In this theory of inheritance, “seeds” are produced by all parts of the body, collect in the reproductive organs and are transmitted to offspring at conception

A

Pangenesis

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4
Q

Who proposed the theory of pangenesis?

A

Hippocrates

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5
Q

What are the two main ideas of the blending hypothesis of inheritance?

A
  1. Factors that control hereditary traits are malleable; 2. Factors that control hereditary traits can blend together from generation to generation
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6
Q

Who is considered to be the father of genetics?

A

Gregor Johann Mendel

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7
Q

Mendel’s meticulously accurate records of his experiments included this type of analysis

A

Quantitative analysis

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8
Q

Mendel published this work in 1866

A

Experiments on Plant Hybrids

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9
Q

Was Mendel’s 1866 paper given attention right away by the scientific community?

A

No

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10
Q

What are two reasons why Mendel’s work went ignored in his lifetime?

A
  1. Title did not capture importance of work; 2. Lack of understanding of chromosome transmission
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11
Q

Mendel’s work was independently rediscovered in 1900 by these three scientists

A

Hugo de Vries (Holland); Carl Correns (Germany); Erich von Tschermak (Austria)

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12
Q

Mendel chose this species to study the natural laws governing plant hybrids

A

Garden pea (Pisum sativum)

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13
Q

What are two reasons why the garden pea plant was advantageous for Mendel to study?

A
  1. It existed in several varieties with distinct characteristics; 2. Its structure allowed for easy crosses and parental choice
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14
Q

What two types of breeding experiments did Mendel carry out?

A

Self-fertilization and cross-fertilization

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15
Q

This type of fertilization naturally occurs in pea plant because of isolation of the plant’s reproductive structure

A

Self-fertilization

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16
Q

This type of fertilization requires removing and manipulating the anther of the pea plant

A

Cross-fertilization

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17
Q

How many true-breeding characteristics did Mendel study in pea plants?

A

7

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18
Q

These are the observable characteristics of an organism

A

Characters

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19
Q

This term describes the specific properties of a character

A

Trait (or variant)

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20
Q

This is a variety of an organism that produces the same trait over several generations

A

True-breeder

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21
Q

What are the seven characters of pea plants that Mendel studied?

A
  1. Height; 2. Flower color; 3. Flower position; 4. Seed color; 5. Seed shape; 6. Pod color; 7. Pod shape
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22
Q

What two variants of the height character in peas did Mendel observe?

A

Tall and dwarf

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23
Q

What two variants of the flower color character in peas did Mendel observe?

A

Purple and white

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24
Q

What two variants of the flower position character in peas did Mendel observe?

A

Axial and terminal

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25
Q

What two variants of the seed color character in peas did Mendel observe?

A

Yellow and green

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26
Q

What two variants of the seed shape character in peas did Mendel observe?

A

Round and wrinkled

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27
Q

What two variants of the pod color character in peas did Mendel observe?

A

Green and yellow

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28
Q

What two variants of the pod shape character in peas did Mendel observe?

A

Smooth and constricted

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29
Q

Did Mendel have a hypothesis to explain hybrids?

A

No

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30
Q

Mendel believed that quantitative analysis of crosses may provide these that govern hereditary traits

A

Mathematical relationships

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31
Q

This approach, used by Mendel, is used to deduce empirical laws

A

Empirical approach

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32
Q

Mendel’s first experiments involved crossing these

A

Two variants of the same character

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33
Q

This is the term for crossing two variants of the same character to observe that character

A

Single-factor cross

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34
Q

What was the result for the F1 generation across all 7 single-factor crosses that Mendel performed?

A

All one variant

35
Q

What was the ratio of the F2 generation across all 7 single-factor crosses that Mendel performed?

A

3:1

36
Q

Mendel’s results refuted this mechanism of heredity

A

Blending

37
Q

This variant’s effect can be seen in the F1 generation of a single-factor cross

A

Dominant

38
Q

This variant’s effect cannot be seen in the F1 generation of a single-factor cross

A

Recessive

39
Q

Mendel’s results supported this type of inheritance theory, that suggests traits are inherited as discrete units

A

Particulate theory of inheritance

40
Q

This Mendelian law states that two copies of a gene segregate from each other during the process that gives rise to gametes

A

Law of Segregation

41
Q

What ratio is consistent with Mendel’s Law of Segregation?

A

3:1

42
Q

This is a grid that helps predict the outcome of simple genetic crosses

A

Punnett square

43
Q

The Punnett square was proposed by this English geneticist

A

Reginald Punnett

44
Q

What are the two possible patterns of inheritance for two-factor crosses?

A

Linked assortment or independent assortment

45
Q

The occurence of these in the F2 generation of two-factor crosses contradicts the linked assortment model

A

Nonparentals (offspring with novel combinations of traits)

46
Q

What is the predicted phenotypic ratio of an independently assorted F2 generation?

A

9:3:3:1

47
Q

This Mendelian law states that two different genes will randomly assort during gamete formation

A

Law of Independent Assortment

48
Q

Why are some genes linked?

A

They are close together on the same chromosome

49
Q

This is when an offspring receives a combination of alleles that differs from the parental generation

A

Genetic recombination

50
Q

What are two causes of genetic recombination?

A

Independent assortment and crossing over

51
Q

The Punnett square becomes cumbersome when involving this many independently assorting genes

A

3 or more

52
Q

These are two alternative methods to the Punnett square for predicting crosses involving 3 or more independently assorting genes

A

Forked-line method and multiplication method

53
Q

Modern geneticists are often interested in the relationship between this and the outcome of traits

A

Molecular expression of genes

54
Q

What two-step approach do modern geneticists use to examine the outcome of traits based on gene expression?

A
  1. Identify individual with defective copy of gene; 2. Observe how this copy affects the organism’s phenotype
55
Q

These are defective copies of genes

A

Loss-of-function alleles

56
Q

Are loss-of-function alleles commonly inherited as dominant or recessive alleles?

A

Recessive

57
Q

This is used to determine the pattern of inheritance of traits in humans

A

Pedigree analysis

58
Q

Pedigree analysis is commonly used to determine the inheritance pattern of these

A

Human genetic diseases

59
Q

Is cystic fibrosis a recessive or dominant disorder?

A

Recessive

60
Q

About what percent of Caucasian people carry the gene that causes cystic fibrosis?

A

3%

61
Q

This protein that regulates ion transport across the cell membrane is altered by a mutant allele in individuals with cystic fibrosis

A

Cystic fibrosis transmembrane conductance regulator (CFTR)

62
Q

What is the formula for the probability of an event?

A

Probability = # of times an event occurs/total # of events

63
Q

This deviation between observed and expected outcomes is large for small samples and small for large samples

A

Random sampling error

64
Q

To compute probability, these two mathetmatical operations are used

A

Product rule and binomial expansion equation

65
Q

This rule states that the probability that two or more independent events will occur is equal to the product of their respective probabilities

A

Product rule

66
Q

These are events in which the occurrence of one does not affect the probability of another

A

Independent events

67
Q

In this genetic disease, affected individuals cannot perceive extreme sensations as painful

A

Congenital analgesia

68
Q

This is a statistical method used to determine the goodness of fit

A

Chi Square Test

69
Q

This refers to how close the observed data are to those predicted from a hypothesis

A

Goodness of fit

70
Q

Can the chi square test prove that a hypothesis is correct?

A

No

71
Q

What is the general formula for the Chi Square Test?

A

χ² = ∑ (O - E)²/E

72
Q

What does O stand for in the Chi Square Test formula?

A

Observed data in each category

73
Q

What does E stand for in the Chi Square Test formula?

A

Expected data in each category based on the experimenter’s hypothesis

74
Q

What does ∑ stand for in the Chi Square Test formula?

A

Sum of calculations for each category

75
Q

The calculated chi square value can be used to obtain these from a chi square table

A

P values

76
Q

These probabilities determine the likelihood that observed deviations are due to random chance alone

A

P values

77
Q

What do low chi square values indicate?

A

High probability that the observed deviations could be due to random chance alone

78
Q

What do high chi square values indicate?

A

Low probability that the observed deviations are due to random chance alonee

79
Q

If a chi square test results in a P value less than this, the hypothesis is rejected

A

0.05 (5%)

80
Q

Before using a chi square table, these have to be determined

A

Degrees of freedom

81
Q

This is a measure of the number of categories that are independent of each other

A

Degrees of freedom

82
Q

What is the formula for degrees of freedom?

A

df = n - 1

83
Q

What does n stand for in the formula for degrees of freedom?

A

Total number of categories