Ch. 4 - Single-Gene Inheritance Flashcards

1
Q

An individual with two identical alleles for a gene is _____ for that gene.

A

Homozygous

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2
Q

An individual with two different alleles is _____.

A

Heterozygous

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3
Q

The _____ describes the outward expression of an allele combination.

A

Phenotype

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4
Q

A _____ phenotype is a variant of a gene’s expression that arises when the gene undergoes a change.

A

Mutant

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5
Q

One trait that masks another is _____ trait.

A

Dominant

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6
Q

When pea plants from a pure-breeding strain with purple flowers are crossed with pea plants from a pure-breeding strain with white flowers, the F1 offspring all have purple flowers. However, the next generation (the F2 generation) contains plants with purple flowers and plants with white flowers.

For the flower color, purple is _____ white.

A

Dominant to

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7
Q

When pea plants from a pure-breeding strain with purple flowers are crossed with pea plants from a pure-breeding strain with white flowers, the F1 offspring all have purple flowers. However, the next generation (the F2 generation) contains plants with purple flowers and plants with white flowers.

If the symbols P and p are used for the purple and white alleles, then the genotype of the F1 plants is _____.

A

Pp

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8
Q

When pea plants from a pure-breeding strain with purple flowers are crossed with pea plants from a pure-breeding strain with white flowers, the F1 offspring all have purple flowers. However, the next generation (the F2 generation) contains plants with purple flowers and plants with white flowers.

In this example, the _____ of a flower is purple or white.

A

Phenotype

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9
Q

When pea plants from a pure-breeding strain with purple flowers are crossed with pea plants from a pure-breeding strain with white flowers, the F1 offspring all have purple flowers. However, the next generation (the F2 generation) contains plants with purple flowers and plants with white flowers.

Plants that contain two p alleles are said to be _____.

A

Homozygous

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10
Q

When pea plants from a pure-breeding strain with purple flowers are crossed with pea plants from a pure-breeding strain with white flowers, the F1 offspring all have purple flowers. However, the next generation (the F2 generation) contains plants with purple flowers and plants with white flowers.

The most common expression of a particular allele combination is called the _____ phenotype.

A

Wild type

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11
Q

Determine whether each description applies to autosomal dominant traits, autosomal recessive traits, or both.

Successive generations affected

Affected individuals may be heterozygous

A

Autosomal dominant

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12
Q

Determine whether each description applies to autosomal dominant traits, autosomal recessive traits, or both.

Trait skips generations

Affected individuals are always homozygous

A

Autosomal recessive

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13
Q

Determine whether each description applies to autosomal dominant traits, autosomal recessive traits, or both.

Males and females affected

Both males and females transmit the trait

A

Both

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14
Q

Consider the following genotype and phenotypes:
BB, Bb, yellow (normal) urine
bb, beeturia (red urine after eating beets)
HH, Hh, colored eyelids
hh, normal eyelids
EE, Ee, brachydactyly (short fingers)
ee, normal fingers

If a man and woman both have the genotype Ee, then what is the probability that their child will have normal fingers?

A

1/4

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15
Q

Consider the following genotype and phenotypes:
BB, Bb, yellow (normal) urine
bb, beeturia (red urine after eating beets)
HH, Hh, colored eyelids
hh, normal eyelids
EE, Ee, brachydactyly (short fingers)
ee, normal fingers

If a man has normal urine and genotype Bb and a woman has beeturia and genotype bb, what is the probability that their child will have beeturia?

A

1/2

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16
Q

Consider the following genotype and phenotypes:
BB, Bb, yellow (normal) urine
bb, beeturia (red urine after eating beets)
HH, Hh, colored eyelids
hh, normal eyelids
EE, Ee, brachydactyly (short fingers)
ee, normal fingers

If a man has genotype BbHh and a woman has genotype Bbhh, then what is the probability that their child will have beeturia?

A

1/4

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17
Q

Consider the following genotype and phenotypes:
BB, Bb, yellow (normal) urine
bb, beeturia (red urine after eating beets)
HH, Hh, colored eyelids
hh, normal eyelids
EE, Ee, brachydactyly (short fingers)
ee, normal fingers

What is the probability that their child will have colored eyelids?

A

1/2

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18
Q

Consider the following genotype and phenotypes:
BB, Bb, yellow (normal) urine
bb, beeturia (red urine after eating beets)
HH, Hh, colored eyelids
hh, normal eyelids
EE, Ee, brachydactyly (short fingers)
ee, normal fingers

What is the probability that their child will have both beeturia and colored eyelids?

A

1/8

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19
Q

Which of the following statements are true of single-gene diseases?

A

Risks can be predicted for family members; predictive testing is sometimes possible; correction of the underlying genetic abnormality may be possible

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20
Q

Which stage of meiosis explains Mendel’s law of segregation?

A

Anaphase I

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21
Q

A male individual is heterozygous for a gene for big ears, Bb. After meiosis in a cell from this individual, how many gametes will there be and what will their genotypes be with regard to the B gene?

A

4 gametes, two with genotype B and two with genotype b

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22
Q

A Punnett square is used to track _____.

A

How alleles combine in offspring

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23
Q

Based on Mendel’s laws of independent assortment and segregation, what are the possible gametes for a cell with the genotype CCBb?

A

CB and Cb

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24
Q

Consider the following pedigree which follows the transmission of an autosomal recessive disease. For this disease M is the dominant allele and m is the recessive allele. What are the possible genotypes of individual 2 in the 4th generation (assume we don’t yet know if she is a carrier)?

A

MM or Mm

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25
Q

In order to determine if a patient with a syndrome inherited a recessive disease or had a de novo mutation, who all MUST undergo genome or exome sequencing?

A

The child; mom; dad

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26
Q

When exome sequencing detects a de novo mutation (one that is not present in either parent), that mutation is likely to be _____.

A

Dominant

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27
Q

Eye color in humans is controlled by at least two genes. Which individuals will have blue eyes?

A

An individual with 2 recessive

OCA2 genes; an individual with 2 dominant OCA2 genes and 2 recessive HERC2 genes

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28
Q

What affects eye color in humans?

A

The OCA2 gene; the HERC2 gene; peaks and valleys on the back of the iris

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29
Q

If a trait is autosomal dominant, then an individual who expresses the trait may have parents who do not express the trait.

A

False

30
Q

An autosomal dominant trait may be transmitted from father to son.

A

True

31
Q

Individuals who express autosomal recessive traits are always homozygous.

A

True

32
Q

Autosomal recessive traits never skip a generation.

A

False

33
Q

Individuals who express autosomal dominant traits are always homozygous.

A

False

34
Q

In a cross between two true-breeding pea plants, one with yellow (Y), round (R) seeds and one with green (y), wrinkled (r) seeds, all of the F1 offspring have yellow, round seeds. If two of the F1 individuals are crossed, the F2 generation is produced.

YYRR

A

Yellow round seed

35
Q

In a cross between two true-breeding pea plants, one with yellow (Y), round (R) seeds and one with green (y), wrinkled (r) seeds, all of the F1 offspring have yellow, round seeds. If two of the F1 individuals are crossed, the F2 generation is produced.

Yyrr

A

Yellow wrinkled seed

36
Q

In a cross between two true-breeding pea plants, one with yellow (Y), round (R) seeds and one with green (y), wrinkled (r) seeds, all of the F1 offspring have yellow, round seeds. If two of the F1 individuals are crossed, the F2 generation is produced.

yyRR

A

Green round seed

37
Q

In a cross between two true-breeding pea plants, one with yellow (Y), round (R) seeds and one with green (y), wrinkled (r) seeds, all of the F1 offspring have yellow, round seeds. If two of the F1 individuals are crossed, the F2 generation is produced.

yyrr

A

Green wrinkled seed

38
Q

In a cross between two true-breeding pea plants, one with yellow (Y), round (R) seeds and one with green (y), wrinkled (r) seeds, all of the F1 offspring have yellow, round seeds. If two of the F1 individuals are crossed, the F2 generation is produced.

YYrr

A

Yellow wrinkled seed

39
Q

In a cross between two true-breeding pea plants, one with yellow (Y), round (R) seeds and one with green (y), wrinkled (r) seeds, all of the F1 offspring have yellow, round seeds. If two of the F1 individuals are crossed, the F2 generation is produced.

yyRr

A

Green round seed

40
Q

In a cross between two true-breeding pea plants, one with yellow (Y), round (R) seeds and one with green (y), wrinkled (r) seeds, all of the F1 offspring have yellow, round seeds. If two of the F1 individuals are crossed, the F2 generation is produced.

YyRR

A

Yellow round seed

41
Q

In a cross between two true-breeding pea plants, one with yellow (Y), round (R) seeds and one with green (y), wrinkled (r) seeds, all of the F1 offspring have yellow, round seeds. If two of the F1 individuals are crossed, the F2 generation is produced.

YyRr

A

Yellow round seed

42
Q

Similar to the inheritance of single-gene diseases, infectious disease inheritance can be easily calculated.

A

False

43
Q

Single-gene diseases can be much more common in some populations than in others.

A

True

44
Q

If an individual has the allele(s) for a single-gene disease, they will definitely become ill with the disease.

A

False

45
Q

Some genetic diseases may be treated by providing a missing enzyme or protein.

A

True

46
Q

Single-gene traits and diseases are called Mendelian.

A

True

47
Q

This pedigree can describe either an autosomal dominant trait or an autosomal recessive trait. If the gene is represented by the letter A/a, what is the genotype of each individual listed?

Individual I-1 if trait is autosomal recessive.

A

aa

48
Q

This pedigree can describe either an autosomal dominant trait or an autosomal recessive trait. If the gene is represented by the letter A/a, what is the genotype of each individual listed?

Individual I-1 if trait is autosomal dominant.

A

Aa

49
Q

This pedigree can describe either an autosomal dominant trait or an autosomal recessive trait. If the gene is represented by the letter A/a, what is the genotype of each individual listed?

Individual I-2 if trait is autosomal recessive.

A

Aa

50
Q

This pedigree can describe either an autosomal dominant trait or an autosomal recessive trait. If the gene is represented by the letter A/a, what is the genotype of each individual listed?

Individual I-2 if trait is autosomal dominant.

A

aa

51
Q

This pedigree can describe either an autosomal dominant trait or an autosomal recessive trait. If the gene is represented by the letter A/a, what is the genotype of each individual listed?

Individual II-4 if trait is autosomal recessive.

A

aa

52
Q

This pedigree can describe either an autosomal dominant trait or an autosomal recessive trait. If the gene is represented by the letter A/a, what is the genotype of each individual listed?

Individual II-4 if trait is autosomal dominant.

A

Aa

53
Q

One way that single-gene diseases differ from other diseases is that _____.

A

It is possible to predict occurrence in specific relatives

54
Q

In pea plants, the allele for tall (T) is dominant to the allele for short (t). The genotype for a short pea plant is _____.

A

tt

55
Q

In a family that starts with you, your grandchildren would be the _____ generation.

A

F2

56
Q

Which of the following genotypes is homozygous?

A

RR

57
Q

Mendel called physical units responsible for the inheritance of traits “elementen.” The basis for his first law is that elementen _____.

A

Separate from each other as gametes form

58
Q

Mendel’s laws derive from _____.

A

Meiosis

59
Q

The inheritance of eye color indicates that _____.

A

Other characteristics, such as the texture at the back of the eye, can affect the phenotype

60
Q

Sickle cell disease is inherited as an autosomal recessive trait. The genotype of an individual with sickle cell disease is _____.

A

Homozygous recessive

61
Q

The wild type eye color for humans is _____.

A

Brown

62
Q

Destiny has distal symphalangism - her fingers and toes are stiff, with tiny nails. She looks it up and finds it is an autosomal dominant trait. Since her parents do not have it, she reasons that she has a new mutation. However, if she has children, each of them, assuming her partner does not have the condition, has a(n) _____ probability of inheriting the condition.

A

1/2

63
Q

One reason that diseases caused by dominant alleles remain in populations is that _____.

A

They often do not produce symptoms until a person has already had children

64
Q

Mode of inheritance reflects _____.

A

Whether a gene is on an autosome or sex chromosome and whether the allele is recessive or dominant

65
Q

For two genes on different chromosomes, the inheritance of one gene does not influence the chance of inheriting the other gene. This is called _____.

A

The law of independent assortment

66
Q

The phenotypic ratio expected from a dihybrid cross is _____.

A

9:3:3:1

67
Q

Using the product rule, the probability that parents heterozygous for two traits (AaBb) produce an offspring homozygous recessive for the same two traits (aabb) is _____.

A

1/16

68
Q

In a human pedigree that traces the inheritance of albinism, a filled square represents a _____.

A

Male with albinism

69
Q

The original pedigrees, used in France in the fifteenth century, resembled _____.

A

A bird’s foot

70
Q

This pedigree shows the transmission of an autosomal recessive disease. If individuals III-2 and III-3 have an additional child, what is the probability that it will be an affected girl?

A

1/8

71
Q

In a human pedigree that traces the inheritance of sickle cell disease, a half-filled circle represents a _____.

A

Heterozygous female

72
Q

Which of the following analyses would be most effective in identifying a disease-causing gene variant inherited from a parent, or one that has arisen in the child?

A

Family exam analysis