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Advanced Pathophysiology (N230A) > Genes and Genetic Diseases > Flashcards

Genes and Genetic Diseases Flashcards

Information covering the various topics of the "Genes and Genetic Diseases" lecture.

1
Q

The study of biologic heredity

A

Genetics

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2
Q

The basic unit of heredity

A

Gene

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3
Q

The field of genetics concerned with the structural and functional studies of the genome

A

Genomics

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4
Q

DNA representing all of the genes for a given species

A

Genome

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5
Q

Name the 3 basic parts of Nucleotide

A
  1. Deoxyribose (pentose sugar)
  2. Phosphate molecule
  3. Nitrogenous base
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6
Q

Nucleotide nitrogenous bases can be broken down into 2 basic groups

A
  1. Purines

2. Pyrimidines

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7
Q

Name the Purines associated with DNA

A
  1. Adenine

2. Guanine

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8
Q

Name the Pyrimidines associated with DNA

A
  1. Cytosine

2. Thymine

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9
Q

How does complementary pairing occur (general)?

A

A Purine binds with Pyrimidine:

  • A to T
  • C to G
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10
Q

The basic building block of Proteins

A

Amino Acids

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11
Q

The number of Amino Acids associated with human physiology

A

20

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12
Q

Nucleic Acid which contains the transcribed instructions for protein synthesis

A

Messenger RNA (mRNA)

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13
Q

Site of Transcription

A

Nucleus

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14
Q

Nucleic Acid which provides the machinery needed for protein synthesis

A

Ribosomal RNA (rRNA)

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15
Q

Nucleic Acid which delivers Amino Acids to the Ribosome

A

Transfer RNA (tRNA)

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16
Q

Site of Translation

A

Cytoplasm

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17
Q

T/F: DNA never leaves the nucleus

A

TRUE

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18
Q

4 ways in which mRNA is process

A
  1. Removing some parts (Introns)
  2. Keeping some parts (Extrons, “expressed”)
  3. Adding some bases
  4. Cutting and Splicing mRNA
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19
Q

_____ acts as a pattern/template telling the cell how to line up Amino Acids for Protein synthesis

A

mRNA

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20
Q

Cellular structure that holds mRNA and binds Amino Acids during Protein synthesis

A

Ribosome

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21
Q

Process which involves taking the instructions transcribed from DNA to mRNA and using them for Protein synthesis

A

Translation

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22
Q

_____ refers to 3 consecutive bases on mRNA

A

Codon

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23
Q

_____ refers to 3 consecutive bases on tRNA that are complementary to an mRNA Codon

A

Anticodon

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24
Q

Substance that directs the creation of all Proteins and cell

A

DNA

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25
Q

Sequences of DNA which contain the instructions for making a Protein

A

Gene

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26
Q

Chromosomes that are Sex-linked

A

X and Y chromosomes

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27
Q

T/F: The X chromosome is Dominant

A

FALSE

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28
Q

_____ refers to all chromosomes other than sex-linked

A

Autosomal

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29
Q

Human cells containing 46 chromosomes (23 pairs); Diploid cells

A

Somatic Cells

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30
Q

Human cells containing 23 chromosomes; Haploid cells

A

Gametes

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31
Q

The process which forms Haploid cells from Diploid cells

A

Meiosis

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32
Q

Chromosome Structure:

Notated as “p”

A

Short arm

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33
Q

Chromosome Structure:

Notated as “q”

A

Long arm

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34
Q

Chromosome Structure:

The region of attachment between sister chromatids

A

Centromere

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35
Q

Chromosome Structure:

End “caps” containing multiple base pairs which shorten with each cell division

A

Telomere

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36
Q

A Chromosome pair that are virtually identical are said to be _____

A

Homologous

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37
Q

Example of a Nonhomologous pair of Chromosomes

A

XY

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38
Q

Any inherited alteration of genetic material

A

Mutation

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39
Q

The 2 basic types of Mutation

A
  1. Chromosome aberrations

2. Base pair substitutions

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40
Q

Choose: Somatic Cells or Gametes

Mutations in this type of cell can be transmitted to offspring

A

Gametes

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41
Q

An agent known to increase the frequency of mutations

A

Mutagen

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42
Q

The 2 basic types of Mutagens

A
  1. Radiation

2. Chemicals

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43
Q

The 4 basic types of Base Pair Substitution Mutations

A
  1. Silent
  2. Missense
  3. Nonsense
  4. Frameshift
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44
Q

A DNA sequence change that does not change the Amino Acid sequence of the Gene

A

Silent Mutation

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45
Q

A type of Mutation that results in a single Amino Acid change in the translated Gene

A

Missense Mutation

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46
Q

A type of Mutation in which an mRNA [STOP] Codon is either produced or removed

A

Nonsense Mutation

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47
Q

An alteration of DNA in which an addition or deletion of a Base Pair occurs

A

Frameshift Mutation

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48
Q

Examples of consequences of Mutation which result in a gain of function

(Associated with Dominant Disorders)

A
  • Production of new Protein product

- Overexpression of a Protein product

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49
Q

Examples of consequences of Mutation which result in a loss of function

(Associated with Recessive Disorders)

A

Loss of 50% Protein product

May or may not be adequate for normal function.

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50
Q

A Mutation that occurs in absence of exposure to known Mutagens

A

Spontaneous Mutation

51
Q

Areas of the Chromosomes that have high Mutation rates

A

Mutational Hotspots

52
Q

Example of a Mutational Hotspot in Humans

A

Cytosine base followed by a Guanine base

53
Q

A specific position of a Gene along a Chromosome

A

Locus

54
Q

A different form of a particular Gene at a given Locus

A

Allele

55
Q

A Locus that has two or more Alleles that occur with appreciable frequency

A

Polymorphism

56
Q

The genetic makeup of an organism

A

Genotype

57
Q

The observable, detectable, or outward appearance of the Genetics of an organism

A

Phenotype

58
Q

When all copies of a Gene/Loci (between Chromosomes) are alike, they are said to be _____

A

Homozygous

59
Q

When all copies of a Gene/Loci (between Chromosomes) are different, they are said to be _____

A

Heterozygous

60
Q

When only one copy of a Gene exists, it is said to be _____

A

Hemizygous

61
Q

In studying Pedigrees, the person with whom the disorder begins is referred to as the _____

A

Proband

62
Q

Process of turning a Gene “ON”

Promoted by external influence.

A

Induction

63
Q

Process of turning a Gene “OFF”

A

Repression

64
Q

The ability of a Gene to express its function

A

Penetrance

65
Q

When many Genes can affect one Trait

A

Polygenic

66
Q

When both multiple Genes and the environment can affect one Trait

A

Multifactorial

67
Q

When one Gene can mask the effect of another

A

Epistasis

68
Q

When one Gene might depend on another Gene

A

Complementary

69
Q

When two Genes together might create a new Phenotype

A

Collaborative

70
Q

The probability that parents of a child with a genetic disease will have yet another child with the same disease

A

Recurrence Risk

71
Q

When one parent is affected by an Autosomal Dominant disease and the other is normal, the occurrence and recurrence risks for each child are _____

A

50%

72
Q

When inheriting a dominant mutant gene fails to be expressed, the trait is said to have _____

A

Reduced Penetrance

73
Q

Disorders that can be expressed differently among individuals are said to have _____

A

Variable Expressivity

74
Q

The percentage of individuals with a specific Genotype who also express the expected Phenotype

A

Penetrance

75
Q

The variation in a Phenotype associated with a particular Genotype

A

Expressivity

76
Q

Disorder type that is manifested only when both members of the gene pair (Homozygous) are affected

A

Autosomal Recessive Disorders

77
Q

The mating of two related individuals

A

Consanguinity

78
Q

X chromosome or Y chromosome:

Location of most Sex-linked Disorders

A

X chromosome

79
Q

Presence in one individual of two or more cell lines characterized by distinctive karyotypes

A

Mosaicism

80
Q

A change in chromosome number

A

Aneuploidy

81
Q

The presence of only one member of a chromosome pair

Severe; often causes abortion.

A

Monosomy

82
Q

The presence of more than 2 chromosomes to a set

A

Polysomy

83
Q

The presence of three chromosomes to a set

A

Trisomy

84
Q

Most common trisomy disorder (and most common chromosome disorder)

A

Down Syndrome (Trisomy 21)

85
Q

The normal separation of chromosomes during cell division

A

Disjunction

86
Q

The failure of homologous chromosomes or sister chromatids to separate normally during Mitosis or Meiosis

A

Nondisjunction

87
Q

Type of Chromosome Aberration that usually the cause of Aneuploidy

A

Nondisjunction

88
Q

Autosomal Aneuploidy in which only an extra portion of a chromosome is present

A

Partial Trisomy

89
Q

Trisomies occurring only in some cells of the body

A

Chromosome Mosaics

90
Q

The best known example of Aneuploidy

A

Down Syndrome (Trisomy 21)

91
Q

Aneuploidy whose signs/symptoms include:

  • Mental retardation
  • Low nasal bridge
  • Epicanthal folds
  • Protruding tongue
  • Poor muscle tone
A

Down Syndrome (Trisomy 21)

92
Q

T/F: The risk of offspring with Trisomy 21 increases with maternal age

A

TRUE

93
Q

Aneuploidy resulting in a female that is XXX

A

Trisomy X

94
Q

Aneuploidy termed “Metafemales”

A

Trisomy X

95
Q

Autosomal Aneuploidy or Sex-linked Aneuploidy:

Down Syndrome (Trisomy 21)

A

Autosomal Aneuploidy

96
Q

Aneuploidy whose signs/symptoms (variable) include:

  • Sterility
  • Menstrual irregularity
  • Mental retardation
A

Trisomy X (“Metafemales”)

97
Q

Aneuploidy resulting in a female with that is X_

A

Turner Syndrome

98
Q

Aneuploidy whose signs/symptoms include:

  • Sterility (absence of ovaries)
  • Short stature
  • Webbing of the neck
  • Edema
  • Underdeveloped breasts and wide nipples
  • High number of aborted fetuses
A

Turner Syndrome

99
Q

Aneuploidy resulting in an individual with at least 2 X chromosomes and 1 Y chromosome

A

Klinefelter Syndrome

100
Q

Increase or Decrease:

Generally, in Aneuploidy disorders, additional X chromosomes will _____ abnormalities.

A

Increase

101
Q

Aneuploidy whose signs/symptoms include:

  • Male appearance
  • Development of female-like breasts
  • Small testes
  • Sparse body hair
  • Long limbs
A

Klinefelter Syndrome

102
Q

3 Agents of Chromosomal Breakage

A
  1. Ionizing Radiation
  2. Chemicals
  3. Viruses
103
Q

5 Types of Chromosomal Damage involving Breakage and Rearrangement

A
  1. Deletion
  2. Inversion
  3. Isochromosome Formation
  4. Ring Formation
  5. Translocation
104
Q

Chromosomal Breakage and Rearrangement:

Disorder resulting from the deletion of a short arm of Chromosome 5

A

Cri du Chat Syndrome

105
Q

Chromosomal Breakage and Rearrangement:

The presence of a repeated gene or gene sequence

A

Duplication

106
Q

Chromosomal Breakage and Rearrangement:

Duplication in the same region as _____ causes mental retardation but no physical abnormalities

A

Cri du Chat Syndrome

107
Q

Chromosomal Breakage and Rearrangement:

Reversal of gene order; usually occurring from a breakage that is reversed during reattachment

A

Inversion

108
Q

Chromosomal Breakage and Rearrangement:

2 Types of Inversion

A
  1. Pericentric

2. Paracentric

109
Q

Chromosomal Breakage and Rearrangement:

Inversion resulting in genes moved to the opposite side of the Centromere

A

Pericentric Inversion

110
Q

Chromosomal Breakage and Rearrangement:

Inversion involving a break on the same arm of the chromosome

A

Paracentric Inversion

111
Q

The interchanging of material between nonhomologous chromosomes

A

Translocations

112
Q

A Translocation at the point of the Centromere

A

Robertsonian Translocation

113
Q

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

A

Fragile Sites

114
Q

Disorder involving a weakened site on the long arm of the X chromosome

A

Fragile X Syndrome

115
Q

The second most common cause of mental retardation

A

Fragile X Syndrome

116
Q

Disorder in which a small region of a sex chromosome gene undergoes repeated duplication, resulting in a longer gene which is susceptible to methylation

A

Fragile X Syndrome

117
Q

Many genes act together to influence an expressed trait

A

Multifactorial Inheritance

118
Q

When expression of a disease existed in two related family members

A

Concordance

119
Q

When expression of a disease exists in on family member but not a second

A

Discordance

120
Q

An environmental agent that produces abnormalities during embryonic or fetal development

A

Teratogenic Agent

121
Q

3 Types of Teratogenic Agents

A
  1. Radiation
  2. Chemicals and Drugs
  3. Infectious Agents
  4. Folic acid Deficiency
122
Q

Why is Mitochondrial DNA subject to mutations at a higher rate than Nuclear DNA?

A

Lack of repair mechanisms

123
Q

Where does all of an offspring’s Mitochondrial DNA come from?

A

The Mother

124
Q

Mitochondrial DNA codes for the proteins needed for _____

A

Aerobic Metabolism

Advanced Pathophysiology (N230A) (1 decks)

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