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MLT-MLS Spring 2023 > Molecular Diagnostics Exam 3 > Flashcards

Molecular Diagnostics Exam 3 Flashcards

1
Q

Definition:
All the genes found in a single individual

A

Human genome

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2
Q

TRUE or FALSE:
Humans have 2 copies of every gene with the exception of some on the X and Y chromosomes

A

TRUE

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3
Q

Definition:
Genetic DNA composition of an individual

A

Genotype

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4
Q

Definition:
Physical characteristics of an individual resulting from genotype

A

Phenotype

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5
Q

Definition:
A change in the sequence of nucleotides in DNA present in a small percentage of the population; usually used to describe rarer genetic changes

A

Mutation

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6
Q

Definition:
A variance in DNA found in a small percentage of the population. Considered mutations that do not severely affect phenotype.

A

Polymorphism

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7
Q

Definiton:
Having the proper number of chromosomes per nucleus

A

Euploid

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8
Q

Definition:
Having other than two of each chromosome, caused by genome mutations.

A

Aneuploidy

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9
Q

Definition:
The complete set of metaphase chromosomes in a cell

A

Karyotype

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10
Q

DNA coils up, wraps around proteins called __________

A

Histones

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11
Q

DNA keeps coiling up and creates ________ and exists as this most of the time.

A

Chromatin

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12
Q

When do we see chromosomes?

A

During cell division

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13
Q

What is done to confirm or predict phenotype?

A

Genotypic analysis

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14
Q

TRUE or FALSE:
Mutations and polymorphisms will always result in a phenotypic change

A

FALSE

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15
Q

What are the 3 categories of DNA mutations?

A

-Gene mutation
-Chromosome mutation
-Genome mutation

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16
Q

Definition:
DNA mutation that affects single genes; often small changes in DNA.

A

Gene mutation

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17
Q

Definition:
DNA mutation that affects the structures of entire chromosomes.

A

Chromosome mutation

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18
Q

Definition:
DNA mutation that changes the number of chromosomes.

A

Genome mutation

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19
Q

Label the picture:

A

1: Telomere
2: p arm
3: Centromere
4: q arm

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20
Q

Definition:
The site of attachment of the chromosome to the spindle

A

Centromere

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21
Q

Definition:
The end of a chromosome composed of repeated DNA sequences and associated proteins

A

Telomere

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22
Q

Definition:
The long arm of a chromosome

A

q arm

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23
Q

Definition:
The short arm of a chromosome

A

p arm

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24
Q

Chromosome Morphology:
Centromere is in the middle of the chromosome; arms are the same length

A

Metacentric

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25
Q

Chromosome Morphology:
One arm is longer than the other

A

Sub-metacentric

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26
Q

Chromosome Morphology:
Centromere is located at one end of the chromosome where the telomere is located

A

Telocentric

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27
Q

Chromosome Morphology:
One arm is extremely small or missing altogether

A

Acrocentric

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28
Q

Visualizing Chromosomes:
This stain results in Q band pattern

A

Fluorescent

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29
Q

Visualizing Chromosomes:
This stain results in G band pattern

A

Chemical

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30
Q

Visualizing Chromosomes:
Stain that results in R banding; pattern that is opposite of G/Q banding

A

Giemsa

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31
Q

Visualizing Chromosomes:
Results in C banding

A

Alkali treatment of chromosomes

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32
Q

Visualizing Chromosomes:
Alkali treatment of chromosomes is used to visualize which part of a chromosome?

A

Centromere

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33
Q

Basis for genetic nomenclature:
Determine the (?)

A

17p11.5
Chromosome 17
Region 1
Band 1
Subband 5

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34
Q

Definition:
A method to detect genome mutations, or aneuploidy

A

Karyotyping

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35
Q

Detection of Chromosomal Mutations:
The exchange of genetic material between chromosomes - may be reciprocal or balanced

A

Translocation

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36
Q

Detection of Chromosomal Mutations:
Loss of chromosomal material - may be micro/smaller and not easily detected by karyotyping

A

Deletion

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37
Q

Detection of Chromosomal Mutations:
Gain of chromosomal material

A

Insertion

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38
Q

Detection of Chromosomal Mutations:
Excision, flipping, and reconnecting chromosomal material within the chromosome

A

Inversion

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39
Q

Detection of Chromosomal Mutations:
Chromosome containing two copies of the same arm and loss of the other arm

A

Isochromosome

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40
Q

Detection of Chromosomal Mutations:
Results from deletion of genetic regions from ends of the chromosome and a joining of the ends to form a ring

A

Ring chromosome

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41
Q

Which of the following is a normal female karyotype result?:
-23, XX
-23, XY
-46, XX
-46, XY

A

-46, XX

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42
Q

A male patient with down syndrome would have what karyotype analysis result?

A

47,XY+21

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43
Q

Definiton:
A method used to detect protein, RNA, and DNA structures in place in the cell

A

FISH - fluorescence in situ hybridization

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44
Q

FISH targets specific sequences of ___________ with fluorescent probes

A

chromosomes

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45
Q

This type of FISH is commonly used to test prenatal samples, tumors, and hematological malignancies. It is more sensitive than metaphase FISH.

A

Interphase FISH

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46
Q

Types of probes used in interphase FISH (4)

A

-Dual-fusion
-Break-apart
-Centrometric
-Telomeric

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47
Q

This type of FISH is commonly used to detect abnormalities that affect multiple chromosomes, detecting small or complex rearrangements.

A

Metaphase FISH

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48
Q

This type of FISH requires sample prep of 72 hour cell culture

A

Metaphase FISH

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49
Q

Definition:
A permanent alteration in DNA sequence that affect single genes; usually small changes in DNA sequence but can range from 1 bp to large segments

A

Gene mutation

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50
Q

Defintion:
Alteration of a single base pair or a few base pairs

A

Point mutations

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51
Q

Types of point mutations (5)

A

-Silent
-Conservative
-Non-conservative
-Nonsense
-Frameshift

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52
Q

Types of Point Mutations:
An alteration in the DNA sequence that does not change the amino acid sequence

A

Silent

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53
Q

Types of Point Mutations:
An alteration in DNA sequence that substitutes and amino acid with one of similar biochemical properties

A

Conservative

54
Q

Types of Point Mutations:
An alteration in DNA sequence that results in the substitution of an amino acid with dissimilar biochemical properties

A

Non-conservative

55
Q

Types of Point Mutations:
Alteration in DNA sequence that results in the substitution of a stop codon for an amino acid codon

A

Nonsense

56
Q

Types of Point Mutations:
Insertion or deletion in DNA sequence that throws the triplet codon out of frame

A

Frameshift

57
Q

Types of Point Mutations:
Which point mutations affect the phenotype? (3)

A

Frameshift
Nonsense
Non-conservative

58
Q

TRUE or FALSE:
Finding a mutation does not guarantee an altered phenotype

A

TRUE

59
Q

4 methods of detection for gene mutations

A

-Biochemical
-Hybridization based
-Sequencing based
-Enzymatic & chemical cleavage

60
Q

Detection of Gene Mutations:
Method used to directly analyze the change in protein structure or function rather than searcher point mutations; useful for metabolic defects

A

Biochemical method

61
Q

Detection of Gene Mutations:
This type of biochemical method is uses specific antibodies to detect the presence of target molecules.

A

Enzyme immunoassays (EIA)

62
Q

Detection of Gene Mutations:
This type of biochemical method detects antigens in cells in tissue specimens using labeled antibodies specific for target antigen

A

Immunohistochemistry (IHC)

63
Q

Detection of Gene Mutations:
Labels for this biochemical method may be chromogenic or fluorescent

A

Immunohistochemistry (IHC)

64
Q

Detection of Gene Mutations:
This biochemical method measures migration rates of different molecules

A

High-Performance Liquid Chromatography (HPLC)

65
Q

Detection of Gene Mutations:
-Molecules are separated
-Bead or particulate solid trap smaller particles
-Separated particles then measured by detector

A

High-Performance Liquid Chromatography (HPLC)

66
Q

Detection of Gene Mutations:
Similar to HPLC but the samples are vaporized

A

Gas Chromatography (GC)

67
Q

Detection of Gene Mutations:
Molecules are converted to ions that can be moved in a magnetic field based on charge and mass

A

Mass spectrometry (MS)

68
Q

Detection of Gene Mutations:
Molecules are identified based on characteristic peaks

A

Mass spectrometry (MS)

69
Q

Detection of Gene Mutations:
Method that produces ions by shooting a sample with a laser. The ion flies to the detector at a speed based on charge and mass (“time of flight”).

A

Matrix-Assisted Laser Desorption/Ionization (MADLI)

70
Q

Detection of Gene Mutations:
Used to identify high-molecular weight molecules. Used in the micro lab for microorganism identification, sub typing, and antibiotic susceptibility testing. Responsible for decreasing turn-around times in many areas of micro

A

MALDI-TOF

71
Q

Detection of Gene Mutations:
Method that includes methods such as Single-Strand Conformation Polymorphism (SSCP)m Allele-Specific Oligomer (ASO) hybridization, Melt-Curve Analysis (MCA), Heteroduplex Analysis, and Array Methods

A

Hybridization-Based Methods

72
Q

Detection of Gene Mutations:
Method that includes Sequence-Specific PCR (SSP-PCR)

A

Sequencing-Based method

73
Q

Detection of Gene Mutations:
Method that includes Restriction Fragment Length Polymorphisms and Nonisotopic RNAse Cleavage Assay (NIRCA)

A

Enzymatic and Chemical Cleavage Methods

74
Q

A system to consistently describe mutations and polymorphisms

A

Gene Variant Nomenclature

75
Q

Gene or Protein:
Names are capiltalized and set in italics, no hyphens

A

Genes

76
Q

Gene or Protein:
Names are not italicized nor completely capitalized

A

Proteins

77
Q

Mutations in germ cells result in (inherited disease/cancer and some congenital malformations)

A

Inherited disease

78
Q

Mutations in somatic cells result in (inherited disease/cancer and some congenital malformations)

A

cancer and some congenital malformations

79
Q

What can be within genes or outside of genes? Also, when benign, these can be useful for mapping disease genes, identity testing, and determining parentage.

A

Polymorphisms

80
Q

Change in phenotype without change in genotype. Do not change primary DNA sequence. Heritable changes in gene expression.

A

Epigenetic alterations

81
Q

3 forms of epigenetic alterations

A

-DNA methylation
-Genomic imprinting
-Chromatic remodeling

82
Q

Epigenetic alterations:
methyl groups added to DNA which can change the activity of a DNA segment without changing the sequence

A

DNA methylation

83
Q

Epigenetic alterations:
Selectively inactivates chromosomal regions

A

Genomic imprinting

84
Q

Epigenetic alterations:
Sequesters large regions of chromosomal DNA

A

Chromatin remodeling

85
Q

Chromosomal Abnormalities:
Abnormalities in chromosome number

A

Genome mutations

86
Q

Chromosomal Abnormalities:
How are genome mutations detected? (3)

A

Karyotyping, policy analysis by flow cytometry, and FISH

87
Q

Chromosomal Abnormalities:
Down syndrome and Edward syndrome are examples of which type of chromosomal abnormality?

A

Genome mutation

88
Q

Chromosomal Abnormalities:
Abnormalities in chromosome structure. Structural mutations require breakage and reunion of DNA.

A

Chromosome mutation

89
Q

Chromosomal Abnormalities:
How are chromosome mutations detected? (3)

A

Karyotyping, high-resolution FISH, and MicroArray

90
Q

Chromosomal Abnormalities:
DiGeorge syndrome and Cri du chat syndrome are examples of which type of chromosomal abnormality?

A

Chromosome mutation

91
Q

Patterns of Inheritance in Single-Gene Disorders:
Transmission patterns = ?

A

Transmission patterns = patterns of inheritance

92
Q

Patterns of Inheritance in Single-Gene Disorders:
A diagram of the inheritance pattern of a phenotype f family members

A

Pedigree

93
Q

Patterns of Inheritance in Single-Gene Disorders:
The frequency of expression of disease phenotype in individuals with a gene lesion

A

Penetrance

94
Q

Patterns of Inheritance in Single-Gene Disorders:
The expression of the disease phenotype in every individual with the mutated gene; common in homozygous recessive phenotypes.

A

Complete penetrance

95
Q

Patterns of Inheritance in Single-Gene Disorders:
A range of phenotypes in individuals with the same gene lesion

A

Variable expressivity

96
Q

Patterns of Inheritance in Single-Gene Disorders:
What are the 3 main Mendelian transmission patterns?

A

-Autosomal dominant
-Autosomal recessive
-X-linked or Sex-linked

97
Q

Patterns of Inheritance in Single-Gene Disorders: (Mendelian transmission patterns)
A child of an infected individual + unaffected mate has a 50% to 100% risk of expressing disease phenotype

A

Autosomal dominant

98
Q

Patterns of Inheritance in Single-Gene Disorders: (Mendelian transmission patterns)
-A child of an affected individual + unaffected carrier has a 50% change of being affected
-A child of two affected individuals has a 100% probability of being affected
-More often observed as a result of two individuals heterozygous for the same mutation producing offspring

A

Autosomal recessive

99
Q

Patterns of Inheritance in Single-Gene Disorders: (Mendelian transmission patterns)
-Having genetic components located on the X chromosome
-Almost always recessive
-Carried by females, manifested most often in males

A

X-linked/Sex-linked

100
Q

This type of disorder can affect structural proteins, enzymes, cell surface receptor proteins, and growth regulators.

A

Single-gene disorders

101
Q

This disorder affects DNA sequence in one gene

A

Single-Gene disorder

102
Q

How are single-gene disorders transmitted?

A

Mendelian fashion (autosomal recessive/dominant or X-linked)

103
Q

Cystic fibrosis is an example of what type of disorder?

A

Single-gene disorder

104
Q

Cystic fibrosis is caused by the loss of function of what gene?

A

CF transmembrane conductance regulator (CFTR)

105
Q

Cystic fibrosis can be detected by what molecular test methods? (4)

A

-PCR-RFLPs, SSP-PCR, Bead Array Technology, and Direct Sequencing

106
Q

Single-Gene Disorders:
Hemoglobinopathies are detected using which molecular methods? (2)

A

Sequencing and PCR-RFLP

107
Q

Single-Gene Disorders:
Connective tissues disorders are detected using which molecular method? (1)

A

Sequencing

108
Q

Single-Gene Disorders:
Cell membrane-associated protein dysfunction can be detected using which molecular methods? (3)

A

Southern Blot, RFLP, Multiplex PCR

109
Q

The most frequent mutation for Cystic Fibrosis

A

3 bp deletion that removes a phenylalanine residue from position 508 of the protein (F508del)

110
Q

3 categories of Single-Gene Disorders with Non-Classical Patterns of Inheritance

A

-Gonadal mosaicism
-Mitochondrial mutations
-Genomic Imprinting

111
Q

TRUE or FALSE:
Single-gene disorders with non-classical patterns of inheritance do not follow Mendelian rules of inheritance

A

TRUE

112
Q

Single-Gene Disorders with Non-Classical Patterns of Inheritance:
-Generation of new mutations in germ cells
-Mutated cells give rise to eggs/sperm carrying the mutation, which can lead to a heritable phenotype
-phenotypically normal parents can have more than one affected child

A

Gonadal mosaicism

113
Q

Single-Gene Disorders with Non-Classical Patterns of Inheritance:
Testing methods for this category include Next-generation sequencing, Sanger sequencing, and Southern Blot

A

Gonadal mosaicism

114
Q

Single-Gene Disorders with Non-Classical Patterns of Inheritance:
Osteogenesis imperfecta is an example of this category

A

Gonadal mosaicism

115
Q

Single-Gene Disorders with Non-Classical Patterns of Inheritance:
-Inherited from mother
-Mitochondria contain their own genome with 37 genes
-Disease manifests in energy-demanding organs (muscles, nervous system)

A

Mitochondrial mutations

116
Q

Single-Gene Disorders with Non-Classical Patterns of Inheritance:
Testing methods include Southern Blot, PCR, PCR-RFLPs, and sequencing

A

Mitochondrial mutations

117
Q

Single-Gene Disorders with Non-Classical Patterns of Inheritance:
Kearns-Sayre syndrome is an example of this category

A

Mitochondrial mutations

118
Q

Single-Gene Disorders with Non-Classical Patterns of Inheritance:
-Inherit only one working copy of a gene instead of two
-Uniparental disomy: inheritance of chromosomal material from only one parent due to abnormal chromosome separation during meiosis

A

Genomic imprinting

119
Q

Single-Gene Disorders with Non-Classical Patterns of Inheritance:
Testing methods include cytogenetics, Karyotyping, FISH, PCR-RFLPs, STR analysis

A

Genomic imprinting

120
Q

Single-Gene Disorders with Non-Classical Patterns of Inheritance:
Chromosome 15:
-Prater-Willi syndrome: deletion from paternal chromosome
-Angelman syndrome: deletion from maternal chromosome

A

Genomic imprinting

121
Q

Label the following on the chromosome: Telomere (2), centromere, p arm, q arm, gene region

A

A-Telomere
B-Centromere
C-Telomere
D-Gene region
E-p arm
F-q arm

122
Q

If the location of a certain part of Chromosome 17 is located on the q arm, region 1, band 1, subbed 2, how would that be written?

A

17q11.2

123
Q

Fill in the blank:
_________ is the exchange of genetic material between chromosomes

A

Translocation

124
Q

Fill in the blank:
________ is the loss of chromosomal material

A

Deletion

125
Q

Fill in the blank:
__________ is the gain of chromosomal material.

A

Insertion

126
Q

Fill in the blank:
___________ is the excision, flipping, and reconnecting of chromosomal material within the chromosome.

A

Inversion

127
Q

Fill in the blank:
____________ is a chromosome containing two copies of the same arm and a loss of the other arm.

A

Isochromosome

128
Q

Fill in the blank:
__________ results from a deletion of genetic regions from ends of the chromosome and a joining of the ends to form a ring.

A

Ring chromosome

129
Q

Karyotyping analysis results are expressed as the number of chromosomes per nucleus, followed by sex chromosomes, followed by any genetic abnormalities. How would a normal male and female karyotype be expressed?

A

Male: 46,XY
Female: 46,XX

130
Q

If a male had an extra chromosome 21, how would that karyotype be written?

A

47,XY+21

131
Q

If a female had a deletion in the q arm of chromosome 7 at region 1, band 3, how would her karyotype be written?

A

46,XX,del(7)(q13)

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