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380: Patho/Physio > Ch.2 Genes and genetic disease > Flashcards

Ch.2 Genes and genetic disease Flashcards

1
Q

DNA consists of what three main things?

A

Deoxyribose, phosphate molecule, and four nitrogenous bases

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2
Q

Proteins are composed of ____ _____. How many?

A

amino acids; 20

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3
Q

What are the two main steps of DNA replication?

A
  1. Untwisting and unzipping of the DNA strand.

2. Complementary base pairing by DNA polymerase (A-T and C-G)

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4
Q

In DNA replication, does the single strand act as a template?

A

Yes

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5
Q

in DNA replication, what allows for complementary base pairing?

A

DNA polymerase

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6
Q

A ______ is any inherited alteration of genetic material

A

mutation

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7
Q

The insertion or deletion of one or more base pairs is which type of mutation?

A

Frameshift

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8
Q

Which type of mutation causes a change in the entire reading frame?

A

Frameshift

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9
Q

Which type of mutation occurs in the absence of exposure to known mutagens?

A

Spontaneous

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10
Q

Areas of chromosomes that have high mutation rates are called?

A

Mutational hot spots

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11
Q

What is a mutagen?

A

Agent known to increase the frequency of mutations

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12
Q

List some common chemical mutagens

A

Nitrogen mustard, vinyl chloride, alkylating agents, formaldehyde, and sodium nitrate

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13
Q

RNA is synthesized from the DNA template. This occurs during _______

A

transcription

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14
Q

With transcription, DNA polymerase binds to the promoter site. T or F?

A

False, RNA polymerase binds to promoter site

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15
Q

What is the result after RNA is synthesized from the DNA template and RNA polymerase binds to the promoter site?

A

Formation of mRNA

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16
Q

after RNA polymerase detaches, where does the mRNA go?

A

It moves out of the nucleus and into the cytoplasm

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17
Q

Transcription of mRNA synthesis continues until?

A

Until the termination sequence is reached

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18
Q

T or F: introns are removed and the exons are then spliced together before mRNA migrates to the cytoplasm

A

True

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19
Q

What is translation?

A

Process by which RNA directs the synthesis of a polypeptide via interaction with tRNA

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20
Q

During translation, what is the site of protein synthesis?

A

ribosome

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21
Q

_____ is the process by which RNA directs the synthesis of a polypeptide via interaction with tRNA

A

translation

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22
Q

tRNA contains a sequence of _______ (anticodon) complementary to the triad of nucleotides on the ____ strand (codon)

A

nucleotides; mRNA

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23
Q

The ____ moves along the mRNA sequence to translate the amino acid sequence

A

ribosome

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24
Q

Translation continues until….

A

termination sequence is reached

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25
Q

After the termination sequence is reached, the polypeptide is released into the ______

A

cytoplasm

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26
Q

T or F, RNA contains the same bases as DNA

A

False

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27
Q

T or F, DNA is replicated in the cytoplasm

A

False; nucleus

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28
Q

T or F, a mutation is an inherited alteration of DNA

A

True

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29
Q

Diploid cells are ______ and haploid cells are _______

A

somatic; gametes

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30
Q

Sperm and egg cells are called

A

gametes

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31
Q

How many chromosomes do gametes contain?

A

23 (one member of each chromosome pair)

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32
Q

How many chromosomes do somatic cells contain?

A

46 (23 pairs)

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33
Q

Mitosis is the formation of ____ cells whereas meiosis is the formation of ______ cells from diploid cells

A

somatic cells; haploid cells

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34
Q

What are autosomes?

A

The first 22 of the 23 pairs of chromosomes in males and females.

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35
Q

T or F, females have a nonhomologous pair of chromosomes XX

A

False…XX is homologous (same)

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36
Q

The ordered display of chromosomes is the _____

A

karotype

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37
Q

____ cells have a multiple of the normal number of chromosomes

A

Euploid

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38
Q

____ and _____ cells are euploid forms

A

haploid and euploid

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39
Q

When is a euploid called a polypoid cell?

A

When a euploid has more than the diploid number

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40
Q

What is a triploidy?

A

A zygote having three copies of each chromosome (69)

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41
Q

What is a tetraploidy?

A

four copies of each chromosome (92)

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42
Q

What is the leading cause of miscarriages and intellectual disability?

A

Chromosomal aberrations

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43
Q

Do triploid or tetraploid fetuses survive?

A

No

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44
Q

What is an aneuploidy?

A

A somatic cell that does not contain a multiple of 23 chromosomes

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45
Q

A ______ is a cell containing three copies of one chromosome

A

trisomic/trisomy

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46
Q

Monosomy is the presence of what?

A

Presence of only one copy of any chromosome

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47
Q

Monosomy is lethal, but infants can survive with trisomy of certain chromosomes. T or F

A

True; it is better to have extra than less

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48
Q

What is the usual cause of aneuploidy?

A

Nondisjunction

49
Q

What is nondisjunction”?

A

Failure of the homologous chromosomes or sister chromatids to separate normally during meiosis or mitosis

50
Q

What is a partial trisomy?

A

When only an extra portion of a chromosome is present in each cell

51
Q

Trisomies occurring only in some cells of the body are called _____ ______

A

Chromosomal mosaics

52
Q

Trisomy 21 is also known as _____ ______

A

down syndrome

53
Q

What is the best known example of an aneuploidy?

A

Down syndrome

54
Q

What is the ratio of Down syndrome to live births?

A

1:800

55
Q

What are some of the phenotypic traits seen in people with Down syndrome?

A

Mentally challenged, low nasal bridge, epicentral folds, protruding folds, protruding tongue, low-set ears, poor muscle tone, etc.

56
Q

The risk of birthing an infant with Down syndrome increases with maternal age above

A

35

57
Q

What is one of the most common sex chromosome aneuploidy?

A

Trisomy X (three X chromosomes)

58
Q

What are some of the symptoms associated with trisomy X

A

Sterility, menstrual irregularity, and/or intellectual disability

59
Q

Do symptoms worsen with each additional X with a sex chromosome aneuploidy?

A

Yes

60
Q

What causes Turner syndrome?

A

females only having only one X chromosome (as opposed to XX)

61
Q

What are the characteristics of Turner syndrome?

A
  • Underdeveloped ovaries (sterile)
  • Short stature (~ 4”7)
  • Webbing of the neck
  • edema
  • un.dev. breasts with wide set nipples
  • high number of aborted fetuses
62
Q

With Turner syndrome, the X is usually inherited from the mother or father?

A

Mother

63
Q

Which syndrome is associated with being mentally challenged and having poor muscle tone?

A

Down syndrome

64
Q

Which syndrome is associated with underdeveloped ovaries and webbing of the neck?

A

Turner syndrome

65
Q

Which syndrome is associated with male appearance, small testes, and sparse body hair

A

Klinefelter syndrome

66
Q

Individuals with at least two X’s and one Y chromosome are born with _____ syndrome

A

Klinefelter

67
Q

Can individuals with Klinefelter syndrome be XXY and XXXY

A

Yes

68
Q

Do the abnormalities of Klinefelter syndrome increase with each X or each Y?

A

X

69
Q

What is a clastogen?

A

A mutanic agent that disrupts or causes chromosomal breakage

70
Q

Examples of clastogens?

A

Ionizing radiation, chemicals, and viruses

71
Q

What’s important about chromosomal breakage?

A

If a chromosome break does occur, physiologic mechanism will usually repair the break, but breaks can heal in a way that alters the structure of the chromosome

72
Q

What causes Cri du chat syndrome?

A

Deletion of the short arm of chromosome 5

73
Q

Cri du chat causes..

A

low birth weight, severe intellectual disability, and microcephaly

74
Q

does duplication of a gene or gene sequence have more or less consequences than deletion of a gene or gene sequence?

A

Less consequences

75
Q

Duplication in the same region as. Cri du chat causes intellectual deficiencies but fewer what?

A

Physical abnormalities

76
Q

Inversions (when looking at abnormalities in chromosome structure) are what?

A
  • Two breaks on a chromosome

- Reversal of the gene order

77
Q

Inversions usually occur from a breakage that gets reversed during reattachment. T or F

A

True

78
Q

What are translocations?

A

The interchanging material between non homologous chromosomes

79
Q

Robertsonian translocation occurs when?

A

When fusion at centromere forms a single chromosome

80
Q

What are fragile sites?

A

Areas on chromosomes that develop distinctive breaks or gaps when cells are cultured

81
Q

Fragile sites have no apparent relationship to disease except for ___ _ _____

A

Fragile X syndrome

82
Q

Where do you find fragile x syndrome?

A

The long arm of the chromosome

83
Q

Which syndrome is second in occurrence to Down syndrome with intellectual disability?

A

Fragile X syndrome

84
Q

Why is there a higher incidence of Fragile X syndrome in males?

A

Because they only have one X chromosome

85
Q
  1. Principle of segregation

2. Principle of independent assortment. These are….

A

Mendel’s law of inheritance

86
Q

T or F: The current understanding of chromosomal behavior is consistent with Mendel’s laws–chromosome theory of inheritance

A

T

87
Q

Pedigrees begin with the _____, the first person who is diagnosed

A

Proband

88
Q

Autosomal _____ inheritance relatively rarely causes diseases

A

dominant

89
Q

Is Huntington disease autosomal dominant or recessive?

A

Dominant

90
Q

The probability that an individual will develop a genetic disease is _____ ____

A

recurrence risk

91
Q

_______ is the percentage of individuals with a specific genotype who also express the expected phenotype

A

Penetrance

92
Q

What is incomplete penetrance?

A

When an individual who has the gene for a disease, but not does not express the disease

93
Q

Which type of tumor (in children) demonstrates incomplete penetrance (90%)

A

Retinoblastoma

94
Q

T or F, ADPKD has full or nearly so penetrance

A

True

95
Q

What is the difference between ADPKD and ARPKD concerning the cysts?

A

Cysts in kidneys develop much earlier than in people with ADPKD

96
Q

Alterations in PKD1 or PDK2 gene occurs with ______

A

AD-PKD

97
Q

Does AD-PKD have a high recurrence risk?

A

Yes

98
Q

______: Same DNA sequence can produce different phenotypes. due to chemical modification that alters expression of genes

A

Epigenetics

99
Q

What is genomic imprinting?

A

When one parent imprints (aka inactivates) the gene during transmission to offspring

100
Q

With autosomal recessive inheritance, are both parents of affected individuals heterozygous carriers?

A

Yes

101
Q

Recurrence for offspring is 25%. This is pertaining to autosomal recessive or dominant?

A

Recessive

102
Q

Is cystic fibrosis ARI or ADI

A

recessive

103
Q

People with ARPKD have inherited a faulty version of gene ______

A

PDK1

104
Q

What is the carrier frequency of ARPKD

A

1:70 to 1:100

105
Q

Mutation in the cystic fibrosis transmembrane conductance regulator ______ gene results in cystic fibrosis

A

CFTCR

106
Q

Consanguinity is….

A

mating of two related individuals

107
Q

_______ dramatically increases the recurrence risk of recessive disorders

A

Consanguinity

108
Q

Why are sex linked disorders usually expressed by males?

A

Females have another X chromosome to counteract the abnormal gene

109
Q

Most sex-linked traits are X or Y linked?

A

X linked

110
Q

Is Duchenne muscular dystrophy sex-linked?

A

Yes

111
Q

Sex is determined by SRY gene on the short or long arm of the Y chromosome?

A

Short arm

112
Q

What triggers action of genes on other chromosomes?

A

The SRY gene on the short arm of the Y chromosome

113
Q

Most X-linked disorders are dominant. T or F

A

False; recessive

114
Q

Do sons or daughters of female carriers have a 50% risk of being affected?

A

Sons (daughters have xx)

115
Q

Dominant alleles have observable effects. T or F

A

True

116
Q

What is crucial about gene mapping?

A

It can identify links between a disease locus and a “marker” locus

117
Q

Variation in traits caused by interaction between/among genetic and environmental factors

A

Multifactorial trait

118
Q

What is gene therapy?

A

Experiments to treat genetic diseases.

119
Q

With _____ ____, you replace a mutated gene with a healthy copy of the gene

A

gene therapy

380: Patho/Physio (8 decks)

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