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[MT 6319] Molecular Biology & Diagnostics Lecture > [2S] UNIT 5 Molecular Diagnosis of Chromosomal Disorders > Flashcards

[2S] UNIT 5 Molecular Diagnosis of Chromosomal Disorders Flashcards

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1
Q

T/F: Linear DNA undergoes process of compacting to ensure that the very long sequences of DNA fit inside the cells

A

T

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2
Q

are made up of supercoiled strands of DNA around histone octamers

A

Chromosomes

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3
Q

The DNA is duplicated and transmitted via _____ or _____ to the next cell generation

A

mitosis or meoisis

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4
Q

cell division for somatic cells

A

Mitosis

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5
Q

cell division for gametes

A

Meoisis

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6
Q

■ Darkly staining
■ Composed of DNA repeating sequences

A

Heterochromatic Bands

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7
Q

■ Light staining
■ Contains many protein encoding genes
■ Non-repetitive sequences

A

Euchromatic Bands

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8
Q

T/F: The bulk of chromosomes are primarily euchromatin which are coding for any protein

A

F; The bulk of chromosomes are primarily heterochromatin which are not coding for any protein

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9
Q

● Nucleosomes pack tightly together
● TRFs cannot bind DNA
● Genes are not expressed

A

Methylation of DNA and Histones: Heterochromatin

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10
Q

● Loose packing of nucleosomes
● TRFs bind DNA
● Genes are expressed

A

Histone Acetylation: Euchromatin

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11
Q

■ Less compact, evenly spaced
■ Makes DNA segments available for
transcription, and later to translation

A

Euchromatin

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12
Q

■ Tightly packed together
■ Transcription factors cannot readily access the DNA sequences; play lesser role in transcription and translation

A

Heterochromatin

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13
Q

47, XXY

A

Klinefelter Syndrome

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14
Q

45, X

A

Turner Syndrome

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15
Q

47, XX, +21

A

Trisomy 21 : Down Syndrome

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16
Q

47, XY +13
47, XX +13

A

Trisomy 13 : Patau Syndrome

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17
Q

47, XY +18
47, XX +18

A

Trisomy 18 : Edward Syndrome

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18
Q

The offspring of a generation wherein the condition manifested and was used as a basis for tracing of the inheritance of traits from previous generations

A

Proband (↖)

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18
Q

Represents the chromosomal aberrations that are present in offsprings

A

Pedigree Analysis

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19
Q

CHROMOSOMAL DISORDERS

● One mutated allele caused the disease
● Each person usually has one affected parent
● Appears in every generation of an affected family (Vertical)

A

Autosomal Dominant

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20
Q

CHROMOSOMAL DISORDERS

● Approximately half of everybody
● Males and females affected
● All Generations

A

Autosomal Dominant

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21
Q

CHROMOSOMAL DISORDERS

● Two mutated alleles needed to cause the disease
● Parents are usually unaffected heterozygotes
● Not typically seen in every generation (Horizontal)

A

Autosomal Recessive

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22
Q

CHROMOSOMAL DISORDERS

● Rare
● Skips generations
● Males and females affected
● Consanguinity

A

Autosomal Recessive

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23
Q

CHROMOSOMAL DISORDERS

Marfan Syndrome
Achondroplasia
Huntington Disease
Myotonic Dystrophy
Freckles
Polydactylism

A

Autosomal Dominant

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24
Q

CHROMOSOMAL DISORDERS

● Females are more frequently affected than males
● No male-to-male transmission

A

X-Linked Dominant

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24
Q

CHROMOSOMAL DISORDERS

Beta-Thalassemia
Cystic Fibrosis
Homocystinuria
Congenital Adrenal Hyperplasia
Maple Syrup Urine
PKU
Tay Sach

A

Autosomal Recessive

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25
Q

CHROMOSOMAL DISORDERS

● Males are more frequently affected
than females
● Both parents of an affected daughter must be carriers
● Fathers cannot pass X-linked traits
to their sons

A

X-Linked Recessive

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26
Q

CHROMOSOMAL DISORDERS

● Some females can have it
● All Generations
● Males get it from affected mothers and give it to their daughters

A

X-Linked Dominant

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27
Q

CHROMOSOMAL DISORDERS

Rett Syndrome
Hypophosphatemia
X-Linked Rickets
Incontinienta Pigmenti

A

X-Linked Dominant

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28
Q

CHROMOSOMAL DISORDERS

● Rare
● Males predominantly have it
● Generally skips generations
● Y-Linked
● Males generally get it from unaffected mothers

A

X-Linked Recessive

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29
Q

CHROMOSOMAL DISORDERS

Hemophilia
Duchenne Muscular Dystrophy
Red-Green Colorblindness
X-Linked Ichthyosis

A

X-Linked Recessive

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29
Q

CHROMOSOMAL DISORDERS

Leber’s Hereditary Optic Neuropathy (LHON)
Heteroplasmy

A

Mitochondrial

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30
Q

CHROMOSOMAL DISORDERS

● Only females can pass on to their children (Maternal Inheritance)
● Both males and females can be affected
● Can appear in every generation of a family

A

Mitochondrial

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30
Q

CHROMOSOMAL DISORDERS

● All males all the time
● All generations

A

Y-Linked

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31
Q

CHROMOSOMAL DISORDERS

Every child of affected mother is affected

A

Mitochondrial

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32
Q

Manifest even though there is only one dominant trait

A

Dominant

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33
Q

Both traits should be recessive for it to manifest

A

Recessive

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34
Q

GENE MUTATION VS CHROMOSOMAL MUTATION: Alteration

Nucleotide sequence of a gene

A

Gene Mutation

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34
Q

Mitochondrial can be transmitted only through ______

A

placenta

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35
Q

GENE MUTATION VS CHROMOSOMAL MUTATION: Caused by errors in

DNA Replication
Mutagens
UV & Chemicals

A

Gene Mutation

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36
Q

GENE MUTATION VS CHROMOSOMAL MUTATION: Alteration

Chromosome structure or number

A

Chromosomal Mutation

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37
Q

GENE MUTATION VS CHROMOSOMAL MUTATION: Affected Gene

Single affected gene

A

Gene Mutation

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37
Q

GENE MUTATION VS CHROMOSOMAL MUTATION

Lethal

A

Chromosomal Mutation

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38
Q

GENE MUTATION VS CHROMOSOMAL MUTATION

Low influence

A

Gene Mutation

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38
Q

GENE MUTATION VS CHROMOSOMAL MUTATION: Affected gene

Multiple affected gene

A

Chromosomal Mutation

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39
Q

GENE MUTATION VS CHROMOSOMAL MUTATION: Disease

● Sickle Cell Anemia
● Hemophilia
● CF
● Tay-sachs
● Cancers

A

Gene Mutation

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40
Q

GENE MUTATION VS CHROMOSOMAL MUTATION: Diseases

Aneuploidies/Polyploidies
● Klinefelter Syndrome
● Turner Syndrome
● Down Syndrome

A

Chromosomal Mutation

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41
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

Part of a chromosome is deleted

A

Deletion

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42
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

Portion of a chromosome is duplicated

A

Duplication

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43
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

Interchange of genetic material between non homologous chromosomes

A

Translocation

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44
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

Interchange of genetic material between two nonhomologous chromosomes

A

Reciprocal Translocation

45
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

The fusion of the long arms of two acrocentric chromosomes and loss of their short arms

A

Robertsonian Translocation

46
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

Portion of a chromosome is inverted

A

Inversion

47
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

The inverted segment includes the centromere

A

Pericentric Inversion

48
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

The inverted segment is located on one arm of the chromosome

A

Paracentric Inversion

49
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

Both arms of a chromosome have fused together as a ring

A

Ring

50
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

A chromosome that has two identical arms because of duplication of one arm of the chromosome

A

Isochromosome

51
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

Mirror-image of one arm of a chromosome

A

Isochromosome

52
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

Abnormal chromosome that has two centromeres

A

Dicentric Chromosome

53
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

Abnormal number of chromosomes

A

Aneuploidy

54
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

Presence of only one of two homologous chromosome in a diploid organism (e.g. Human)

A

Monosomy

55
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

Inheritance of two pairs of homologous chromosome from one parent and no copy from the other parent

A

Uniparental Disomy

56
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

Existence of three copies of a homologous chromosome

A

Trisomy

57
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

Existence of four copies of a homologous chromosome

A

Tetrasomy

58
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

The state of having a single (non-homologous) set of chromosomes

A

Monoploidy

59
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

Having three sets of chromosomes instead of two

A

Triploidy

60
Q

CYTOGENETICS AND MOLECULAR METHODS FOR MUTATION DETECTION

Detecting numerical and gross structural aberrations

A

Karyotype

60
Q

CHROMOSOMAL ABERRATIONS IN HUMAN DISORDERS

Is equivalent to simultaneous duplication and deletion of genetic material

A

Isochromosome

61
Q

CYTOGENETICS AND MOLECULAR METHODS FOR MUTATION DETECTION

● Detecting trisomies, monosomies, and microdeletions
● Detects mosaicism

A

FISH

61
Q

CYTOGENETICS AND MOLECULAR METHODS FOR MUTATION DETECTION

● Detects copy number variations of genetic material
● Used only for losses and gains

A

CGH

62
Q

CYTOGENETICS AND MOLECULAR METHODS FOR MUTATION DETECTION

● Restriction fragments are separated by electrophoresis
● Requires mutation in restriction site

A

RFLP (Restriction Fragment Length Polymorphism)

63
Q

CYTOGENETICS AND MOLECULAR METHODS FOR MUTATION DETECTION

Amplification of more than one target simultaneously

A

Multiplex PCR

64
Q

CYTOGENETICS AND MOLECULAR METHODS FOR MUTATION DETECTION

Amplification using external and internal primer sets

A

Nested PCR

65
Q

CYTOGENETICS AND MOLECULAR METHODS FOR MUTATION DETECTION

Amplification of RNA

A

RT-PCR (Reverse Transcription PCR)

66
Q

CYTOGENETICS AND MOLECULAR METHODS FOR MUTATION DETECTION

● It is based on a combination of PCR, transcription, and translation
● Detects translation-terminating mutations
● Missense mutations are not detected

A

PTT (Protein Truncation Test)

67
Q

CYTOGENETICS AND MOLECULAR METHODS FOR MUTATION DETECTION

● It is based on ligation of two flanked primers annealed with target sequences
● Detects all base exchanges

A

OLA (Oligonucleotide Ligation Assay)

68
Q

Chromosomes 1,3,16,19,20

A

Metacentric

69
Q

Chromosomes 13,14,15,21,22,Y

A

Acrocentric

70
Q

KARYOTYPING

T/F: High resolution banding needs fixation before the chromosomes are fully compacted

A

T

71
Q

INDICATIONS

● Suspected chromosome abnormality
● Sexual disorders

A

Karyotyping

72
Q

BANDING TECHNIQUES

Casperson et al.

A

Q (Quinacrine)

72
Q

INDICATIONS

● Multiple congenital anomalies and/or developmental
retardation
● Undiagnosed learning disabilities

A

Karyotyping

73
Q

INDICATIONS

Infertility or multiple miscarriage, stillbirth and malignancies

A

Karyotyping

74
Q

Chromosomes whose size has
condensed and whose diameter is increased are used for chromosome banding studies after fixing the stage

A

Metaphase Chromosomes

75
Q

BANDING TECHNIQUES

Summer et al.

A

G (Giemsa)

76
Q

BANDING TECHNIQUES

Linde & Laursen

A

C (Centromeric)

76
Q

BANDING TECHNIQUES

Matsui & Sasaki

A

N (NOR)

77
Q

BANDING TECHNIQUES

ID of all chromosomes and bands; reveals polymorphisms on chromosomes 3, 4, 13, 14, 15, 21, 22, and Y; easily destained for sequential staining

A
78
Q

BANDING TECHNIQUES

● ID of all chromosomes and bands
● Permanent stain
● Simple photography

A

G-Banding

79
Q

BANDING TECHNIQUES

● ID of all chromosomes and bands
● Visualization of ends of chromosomes and small positive R-bands

A

R-Banding

80
Q

BANDING TECHNIQUES

● ID of all chromosomes and bands
● ID of inactive late-replication X chromosome

A

Replication Banding

81
Q

BANDING TECHNIQUES

● ID of all centromeric and distal Y heterochromatin
● Reveals polymorphisms including heterochromatin inversions
● Evaluation of ring and dicentric chromosomes

A

C-Banding

81
Q

BANDING TECHNIQUES

● ID of active NOR
● Reveals polymorphisms and rearrangements of acrocentric chromosomes

A

NOR Banding

81
Q

BANDING TECHNIQUES

● ID of centromeric heterochromatin regions of chromosomes: 1,9,15,16,Y
● Useful in evaluation of chromosome 15-derived markers

A

DA-DAPI Staining

82
Q

BANDING TECHNIQUES

● Giemsa stain
● AT-rich regions stain darker than GC-rich regions

A

G-Banding

83
Q

BANDING TECHNIQUES

Quinacrine fluorescent dye stains AT-rich regions

A

Q-Banding

84
Q

BANDING TECHNIQUES

● Banding pattern is opposite
G-banding
● GC-rich regions stain darker than AT-rich regions

A

R-Banding

84
Q

ANEUPLOIDY

One copy instead of a diploid number (2N-1)

A

Monosomics

85
Q

BANDING TECHNIQUES

● Stains heterochromatic regions
close to the centromeres
● Usually stains the entire long arm of the Y chromosome

A

C-Banding

85
Q

ANEUPLOIDY

Gain of an extra copy of chromosome (2N+1)

A

Trisomics

86
Q

BANDING TECHNIQUES

● Denaturation with barium hydroxide followed by giemsa
● The dark bands represent heterochromatin near the centromere

A

C-Banding

87
Q

ANEUPLOIDY

Condition where there is lack of both the normal chromosome for a pair of species; humans with this condition typically don’t survive (2N-2)

A

Nullisomics

88
Q

ANEUPLOIDY

Gain of extra pair of chromosome (2N+2)

A

Tetrasomics

89
Q

POLYPLOIDY

Gain of an extra set of chromosome (3N); resulting to 69 chromosomes rather than the normal 46

A

Triploid

90
Q

POLYPLOIDY

Gain of two extra sets of chromosome (4N); resulting to 92 chromosomes rather than 46

A

Tetraploid

91
Q

del q15

A

Prader Willi Syndrome

92
Q

A cytogenetic technique that uses fluorescent probes that bind specifically to a part of chromosomes complementary to its sequence

A

Fluorescence In Situ Hybridization (FISH)

93
Q

Useful in detecting and mapping the presence or absence of particular DNA sequences within chromosomes

A

Fluorescence In Situ Hybridization (FISH)

94
Q

Applied to provide specific localization of genes on chromosome

A

Fluorescence In Situ Hybridization (FISH)

95
Q

● Rapid Diagnosis of trisomies and microdeletions is acquired using specific probes
● Check the cause of
○ Trisomies
○ Microdeletion syndromes
○ etc.

A

Fluorescence In Situ Hybridization (FISH)

96
Q

METAPHASE VS INTERPHASE FISH

Gold standard and routinely done

A

Metaphase FISH

97
Q

METAPHASE VS INTERPHASE FISH

Done on cultured cells

A

Metaphase FISH

98
Q

METAPHASE VS INTERPHASE FISH

Allows direct visualization of chromosomes and exact position of signals

A

Metaphase FISH

99
Q

METAPHASE VS INTERPHASE FISH

Useful in the detection of
structural changes in the genome; for molecular analysis

A

Metaphase FISH

100
Q

METAPHASE VS INTERPHASE FISH

May also be done on
uncultured specimens

A

Interphase FISH

101
Q

METAPHASE VS INTERPHASE FISH

Advantageous in the rapid screening of many nuclei for prenatal diagnosis and newborn studies; detection of genetic abnormalities

A

Interphase FISH

102
Q

METAPHASE VS INTERPHASE FISH

Also, beneficial in the study of samples with a low mitotic index, such as most solid tumors

A

Interphase FISH

103
Q

METAPHASE VS INTERPHASE FISH

Major disadvantage is the inability to detect unknown structural chromosomal changes

A

Interphase FISH

104
Q

METAPHASE VS INTERPHASE FISH: Samples

Amniocytes
PBS
Bone Marrow Aspirate / Direct Harvest

A

Interphase FISH

105
Q

METAPHASE VS INTERPHASE FISH

Amniocytes
Chronic Villous Cells
Lymphocytes
Cells from bone marrow aspirates or solid tumors
Fibroblasts

A

Metaphase FISH

106
Q

Special FISH technique (dual probes) applied in detecting all genomic imbalances

A

Comparative Genomic Hybridization (CGH)

107
Q

A Fluorescent microscope equipped with a CCD camera and an image analysis system are used for evaluation.

A

Comparative Genomic Hybridization (CGH)

108
Q

APPLICATION

Applied in detecting all genomic imbalances

A

Comparative Genomic Hybridization (CGH)

109
Q

APPLICATION

Determine copy number alterations of genome in cancer and those cells whose karyotype is hard or impossible to prepare/analyze

A

Comparative Genomic Hybridization (CGH)

110
Q

APPLICATION

Basics of the technique: comparison of total genomic DNA of the given sample DNA (e.g tumor DNA) with total genomic DNA of normal cells

A

Comparative Genomic Hybridization (CGH)

111
Q

APPLICATION

Identical amount of both tumor and normal DNAs is labeled with 2 different fluorescent dyes
○ Mixture is added and hybridized to a normal lymphocyte metaphase slide

A

Comparative Genomic Hybridization (CGH)

[MT 6319] Molecular Biology & Diagnostics Lecture (9 decks)

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