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Human Heredity Flashcards

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AP® Biology flashcards Biology 101 flashcards
0
Q

What are the two types of mutations?

A

Gene mutations and chromosomal mutations.

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1
Q

What is a mutation?

A

A change in the genetic sequence.

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2
Q

What is a gene mutation?

A

It is a mutation that produces changes in a single gene.

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3
Q

What is one type of gene mutation?

A

A point mutation.

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4
Q

What is a point mutation?

A

A mutation that results from changes in one or few nucleotides.

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5
Q

What are the three types of point mutations?

A

Substitutions, deletions, and insertions.

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6
Q

What is a substitution?

A

A point mutation that substitutes an amino acid for a wrong one (usually only affects a single amino acid).

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7
Q

What is a deletion (in point mutations)?

A

A point mutation where an amino acid is deleted (affects every amino acid past the point mutation).

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8
Q

What is an insertion?

A

A point mutation where an amino acid is inserted (affects every amino acid past the point mutation).

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9
Q

What is another name for a deletion/insertion?

A

A frameshift mutation.

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10
Q

What is a chromosomal mutation?

A

A mutation that involves changes in the number or structure of chromosomes.

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11
Q

What are the five types of chromosomal mutations?

A

Deletion, duplication, inversion, translocation, and nondisjunction.

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12
Q

What is deletion (in chromosomal mutations)?

A

A chromosomal mutation where a piece of chromosome is lost.

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13
Q

What is duplication?

A

A mutation that results in an extra copy of genes.

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14
Q

What is inversion?

A

A mutation where a piece of chromosome breaks off and reattached backwards.

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15
Q

What is translocation?

A

A mutation were a piece of chromosome breaks off and attaches to another chromosome.

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16
Q

What is nondisjunction?

A

A mutation that occurs during meiosis when homologous chromosomes fail
to separate.

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17
Q

What does nondisjunction result in?

A

It results in an abnormal number of chromosomes.

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18
Q

What is polyploid?

A

A condition that occurs when an organisms has an extra set of chromosomes.

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19
Q

How many copies of an allele do dominant genes need to be expressed?

A

1

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20
Q

Where, in the chromosomes, is an autosomal disorder found?

A

The first 22 pairs.

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21
Q

True or false

Both males and females are equally susceptible to inheriting dominant autosomal disorders.

A

True

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22
Q

What are three examples of a dominant autosomal disorder?

A

Achondroplasia, Huntington’s disease, and hypercholesterolemia.

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23
Q

What is achondroplasia?

A

A form of dwarfism that affect the growth of long bones.

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24
Q

What is Huntington’s disease?

A

A disease that results in progressive loss of muscle control and mental function until death occurs.

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25
Q

When do symptoms for Huntington’s disease start to appear?

A

Between the ages of 30 and 50.

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26
Q

What is hypercholesterolemia?

A

A condition characterized by very high levels of cholesterol in the blood which can lead to heart disease.

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27
Q

What is a recessive autosomal genetic disorder?

A

A genetic disorder that usually requires two copies of alleles before it can be expressed.

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28
Q

True or false

You can be a carrier of a recessive genetic disorder and not show symptoms.

A

True

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29
Q

What are five examples of a recessive autosomal genetic disorder?

A
  • Phenylketonuria (PKU)
  • Tay-Sachs Disease
  • Albinism
  • Galactosemia
  • Cystic fibrosis
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30
Q

Describe phenylketonuria (PKU).

A

It occurs when you lack the enzymes to break down phenylalanine, and amino acids found in milk and many other foods.

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31
Q

What happens if someone with PKU accumulates too much phenylalanine or amino acids found in milk, ect.?

A

It builds up in their brain and can lead to mental retardation.

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32
Q

Describe Tay-Sachs disease.

A

Individuals lack the ability to produce an enzyme that helps break down a chemical found in nerve tissue called gangliosides (a lipid).

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33
Q

True or false

Tay-Sachs disease is more common in Indian families.

A

False, it is more common in Jewish families.

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34
Q

What happens to someone with Tay-Sachs disease?

A

Gangliosides build up in their nerve tissues and break down there nervous system, death normally occurs by the age of five.

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35
Q

Describe albinism.

A

It is caused by mutation and one of several genes that provide instructions for making one of the proteins in the production of melatonin.

36
Q

Describe galactosemia.

A

It is a condition in which the body is unable to use the sugar glucose.

37
Q

What happens if someone with galactosemia has galactose?

A

It builds up in their system and can lead to damage of the liver, brain, kidneys, and eyes.

38
Q

Describe cystic fibrosis.

A

It results in the production of too much mucus, this interferes with breathing and the digestive processes of the pancreas.

39
Q

True or false

Cystic fibrosis is more common in people whose ancestors came from Eastern Europe.

A

False, cystic fibrosis is more common in people whose ancestors came from NORTHERN Europe.

40
Q

Give an example of a codominant genetic disorder.

A

Sickle cell anemia

41
Q

Describe sickle cell anemia.

A

It result from a point substitution, which results in glutamic acid instead of valine in the recipe for the protein hemoglobin.

42
Q

How does sickle cell anemia affect the body?

A

The abnormal hemoglobin is not is soluble as the normal form and often sticks together in long strands causing clots.

43
Q

Why is sickle cell anemia more common in African-Americans?

A

Because being heterozygous (just a carrier) for sickle cell anemia makes you resistant to malaria.

44
Q

What is an example of a multiple allele trait?

A

Your blood type.

45
Q

What makes people’s blood types different?

A

The presence of certain proteins on the red blood cell called antigens.

46
Q

What type of anti-bodies would type A blood produce?

A

Anti-B bodies

47
Q

True or false

AB blood has no antibodies.

A

True

48
Q

True or false

Type O blood has no antibodies.

A

False, it has no antigens.

49
Q

True or false

Type O blood produces both antibodies.

A

True

50
Q

What does the genotype for type A or type B blood look like?

A

A- iAi or iAiA

B- iBi or iBiB

51
Q

What does the genotype for type AB blood look like?

A

iAiB

52
Q

What does the genotype for type O blood look like?

A

ii

53
Q

Who discovered sex-linked traits and linkage groups?

A

Thomas Hunt Morgan

54
Q

What did Thomas Hunt Morgan choose to work with for his experiments, and why?

A

Fruit flies because…
• they mature quickly
• they produce lots of offspring
• they only have 4 genes

55
Q

Describe Morgan’s observation.

A

He noticed that all females had red eyes, and males had either red or white eyes.

56
Q

Explain Morgan’s experiment.

A 
• P1  generation
    - red eye female x white eyed male
• F1 generation
    - all red eyes
    - crossed F1 male w/ F1 female
• F2 generation
    - 3/4 red, 1/4 white
57
Q

What are genes located on the same Y-chromosome called?

A

Y- traits

58
Q

What are genes located on the same X-chromosome called?

A

X-linked traits

59
Q

True or false

Males are more likely to get a recessive genetic disorder.

A

True

60
Q

What are 3 examples of sex- linked genetic disorders?

A

Color blindness, hemophilia, duchenne muscular dystrophy.

61
Q

Describe hemophilia.

A

It is when your blood does not clot properly.

62
Q

Is colorblindness dominant or recessive?

A

Recessive

63
Q

Is hemophilia dominant or recessive?

A

recessive

64
Q

Describe duchenne muscular dystrophy.

A

It is a defect in the gene that codes for a muscular protein.

65
Q

Is duchenne muscular dystrophy dominant or recessive?

A

Recessive

66
Q

What does this mean in a pedigree?

◼️

A

Male

67
Q

What does this mean in a pedigree?

⚫️

A

Female

68
Q

What is X chromosome inactivation?

A

Since females have two X chromosomes and they only need one, one is randomly used in the other turns into a dense mass called a bar body.

69
Q

What is a linkage group?

A

A group of genes located on the same chromosome.

70
Q

Describe the “linkage group experiment’s” results.

A

Linkage groups are normally inherited together, but occasionally an offspring does not follow this pattern.

71
Q

Why are linkage groups sometimes not inherited together?

A

Because crossing over occurs and mixes them up.

72
Q

Who did the “linkage group” experiment?

A

Alfred Sturtevant

73
Q

What is gene mapping?

A

A way to determine the distance between genes on a chromosome.

74
Q

What is the unit used in gene mapping?

A

Map units

75
Q

True or false

If two genes are separated 55% of the time, then there are 55 map units apart.

A

True

76
Q

What does a chromosomal disorder result from?

A

Nondisjunction

77
Q

What is a trisomy?

A

A didorder that results when individuals have an extra chromosome.

78
Q

What is a monosomy?

A

A disorder the results when individuals are missing a chromosome.

79
Q

What is another name for down syndrome?

A

Trisomy 21

80
Q

True or false

Sex chromosome disorders are more severe than autosomal disorders.

A

False, they are less severe than autosomal disorders.

81
Q

What are two examples of sex chromosome disorders?

A

Turner’s syndrome and Klinefelter’s syndrome.

82
Q

Describe Turner’s syndrome.

A

It is a monosomic disorder where females tend to not mature sexually and often times are sterile.

83
Q

Describe Klinefelter’s syndrome.

A

It is a disorder in which you have an extra X chromosome, and it occurs in males who often are sterile.

84
Q

What does someone with Klinefelter’s syndrome look like?

A

They have abnormal body proportions.

85
Q

When does nondisjunction occur and what happens?

A

It occurs during meiosis when homologous chromosomes fail to separate and result in an abnormal amount of chromosomes.

86
Q

Are dominant or recessive autosomal genetic disorders more common, why?

A

Recessive, because you can be a carrier and not get the disease.

87
Q

What is a karyotype?

A

The number and visual appearance of chromosomes in a cell’s nuclei.

88
Q

List three chromosome disorders and identify them as either monosomy or trisomy.

A
  • Down syndrome- trisomy
  • Turner’s syndrome- monosomy
  • patau syndrome- trisomy

Biology (11 decks)

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