Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

CYTOGENETICS > Lesson 6 - Genetic Basis Of Human Diseases > Flashcards

Lesson 6 - Genetic Basis Of Human Diseases Flashcards

1
Q

A scientific discipline that bridges the gap between classical genetics and the microscopic world of chromosomes

A

Cytogenetics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

By studying the structure and number of chromosomes in an individual’s cells, cytogenetics helps us understand the link between ____ and various ____.

A

Chromosomal abnormalities; genetic conditions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

(3) Cytogenetic Techniques

A

Karyotyping
FISH (Fluorescence in situ Hybirdization)
CGH (Comparative Genetic Hybridization)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What cytogenetic technique?

Analyzing the number and structure of chromosomes

A

Karyotyping

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What cytogenetic technique?

targeting specific DNA sequences

A

FISH (Fluorescence in situ Hybridization)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What cytogenetic technique?

detecting chromosomal gains or losses

A

CGH (Comparative Genomic Hybridization)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Cells are cultured and then artificially arrested in mitosis during ____ (or ____)

A

Metaphase; prometaphase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

The most commonly used banding and staining method is the ____ (___)

A

GTG Banding; G-bands trypsin Giemsa

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

GTG banding is also known as

A

G Banding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

XX meaning

A

Female

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

XY meaning

A

Male

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

[##] meaning

A

Number [#] of cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

cen meaning

A

Centromere

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

del meaning

A

Deletion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

der meaning

A

Derivative

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

dup meaning

A

Duplication

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

ins meaning

A

Insertion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

inv meaning

A

Inversion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

ish meaning

A

Metaphase FISH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

nuc ish meaning

A

Interphase FISH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

mar meaning

A

Marker

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

mos meaning

A

Mosaic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

p meaning

A

Short arm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

q meaning

A

Long arm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

r meaning

A

Ring chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

t meaning

A

Translocation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

ter meaning

A

Terminal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

/ meaning

A

Slash

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

+ meaning

A

Gain of

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

— meaning

A

Loss of

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Normal female Karyotype

A

46, XX

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Normal male karyotype

A

46, XY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Number of cells in each clone, typically inside brackets Mosaicism in Klinefelter syndrome with 12 normal cells and 10 cells with an extra X chromosome

A

46, XY[12]/47, XXY[10]

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Male with deletion of chromosome 5 short arm

A

46, XY, del(5p)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Female with structurally rearranged chromosome 2 that resulted from a translocation between chromosomes 2 (short arm) and 7 (long arm)

A

46, XX, der(2), t(2p12;7q13)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Male with interstitial duplication in the long arm of chromosome 15 in the Prader-Willi/Angelman syndrome region

A

46, XY, dup(15)(q11-q13)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Male with an insertion within chromosome 3
A piece between q21q26 has reinserted on p13

A

46, XY, ins(3)(p13q21q26)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Male with pericentric inversion of chromosome 2 with breakpoints at bands p21 and q31

A

46, XY, inv(2)(p21q31)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Female with deletion in the Williams syndrome region detected by in situ hybridization

A

46, XX.ish del(7)(q11.23q11.23)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Interphase in situ hybridization showing 3 signals for the X centromeric region

A

nuc ish(DXZ1 x 3)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Male with extra, unidentified chromosome material

A

47, XY, +mar

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Turner syndrome mosaicism (analysis of 30 cells showed that 14 cells were 45,X and 16 cells were 46,XX)

A

mos 45,X[14]/46, XX[16]

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Male with deletion on the short arm of chromosome 5, band p12 (short nomenclature)

A

46,XY, del(5)(p12)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Male with a deletion on the long arm of chromosome 5, band 14

A

46, XY, del(5)(p14)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Female with 1 normal X chromosome and a ring X chromosome

A

46, X, r(X)(p21q27)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Interchange of material between chromosome 2 and 8 with breakpoints at bands 2q33 and 8q24.1

A

t(2;8)(q33;q24.1)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Male with a deletion of chromosome 5 between p12 and the end of the short arm (long nomenclature)

A

46, XY, del(5)(p12-pter)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Separate lines or clones
Mosaicism for monosomy X and a male cell line

A

45, X / 46, XY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Female with trisomy 21

A

47, XX, +21

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Male with monosomy 21

A

45, XY, -21

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

identifying chromosomal abnormalities in fetuses

A

Prenatal Diagnosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

(3) Clinical applications of cytogenetics

A

Prenatal diagnosis
Cancer diagnosis
Genetic counseling

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

detecting chromosomal rearrangements in tumors

A

Cancer diagnosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

informing couples about the risk of passing chromosomal disorders

A

Genetic counseling

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

Far more common that is widely appreciated

A

Genetic disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

Genetic disorders

Lifetime frequence is estimated to be ____ per ____

A

670;1000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

Less extreme genotypic errors permit _____ and ____

A

Full embroyonic development; live birth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

Estimated that ___% of spontaneous abortuses early in gestation demonstrate chromosomal abnormality

A

50

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

About ___% of all newborn infants possess a gross chromosomal abnormality

A

1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

Serious disease with a significant genetic component develops in approximately __% of individuals younger than age ___ years

A

5; 25

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

Cause the disease or predispose to disease

A

Disorders related to mutations in single genes with large effects

62
Q

Highly penetrant

A

Disorders related to mutations in single genes with large effects

63
Q

Caused by single gene mutations and usually follow the classic Mendelian pattern of inheritance

A

Disorders related to mutations in single genes with large effects

64
Q

Generally rare unless maintained in a population by strong selective forces

A

Disorders related to mutations in single genes with large effects

65
Q

Chromosomal disorders arise from ____ or ___ in the autonomies and sex chromosomes

A

Structural; numerical alteration

66
Q

Chromosomal disorders are ___ but associated with ___

A

Uncommon; high penetrance

67
Q

Caused by interactions between multiple variant forms of genes and environmental factors

A

Complex multigenic disorders

68
Q

Complex multigenic disorders are far more ___

A

Common

69
Q

Variant gene confers small increase in disease risk, no susceptible gene is necessary to produce the disease

A

Polymorphisms

70
Q

This is under polymorphisms

A

Complex multigenic disorders

71
Q

Complex multigenic disorders occurs when several polymorphisms occur that in ____ or _____

A

Multigenic or polygenic diseases

72
Q

Small effect and has low penetrance

A

Complex multigenic disorders

73
Q

Environmental interactions are important in pathogenesis ~ multifactorial disorders (4)

A

Hypertension
Atherosclerosis
Diabetes mellitus
Autoimmune diseases

74
Q

A permanent change in DNA

A

Mutations

75
Q

Germ cells = ___

A

Inherited diseases

76
Q

Somatic cells = ____

A

Cancers and some congenital malformations

77
Q

Point mutations within coding sequences (3)

A

Silent mutations
Missense mutations
Nonsense mutations

78
Q

Frameshift mutations (2)

A

Deletion
Insertion

79
Q

(4) mutations

A

Point mutations within coding sequences
Mutations within noncoding sequences
Deletions and Insertions (Frameshift mutations)
Trinucleotide-repeat mutations

80
Q

Genetic mutation where a single nucleotide base is changed, inserted or deleted from a sequence

A

Point mutation

81
Q

Mutations in DNA that do not have an observable effect on the organism’s phenotype

A

Silent mutation

82
Q

Silent mutations are a specific type of _____

A

Neutral mutation

83
Q

Mutations that alter the meaning of the sequence of the encoded protein

A

Missense mutation

84
Q

Type of missense mutation (2)

A

Conservative
Nonconservative

85
Q

Type of missense mutation

Substituted amino acid is biochemically similar to the original and causes little change in function

A

Conservative

86
Q

Type of missense mutation

Replaces the normal amino acid with a biochemically different one

A

Nonconservative

87
Q

A point mutation may change amino acid codon to a chain terminator or stop codon

A

Nonsense mutation

88
Q

Signals the cell to stop building protein which results in a shortened protein that may function improperly or not at all

A

Nonsense mutation

89
Q

Interfere with binding of transcription factors and leads to marked reduction or lack of transcription

A

Mutations with noncoding sequences

90
Q

Interfere with binding of transcription factors and leads to marked reduction or lack of transcription such as ____

A

Thalassemias

91
Q

Mutations with noncoding sequences may lead to ___ of intervening sequences and results to form a mature ____ . Therefore translation cannot take place and the gene product is not ____.

A

Defective splicing; mRNA
Synthesized

92
Q

involves the loss of one or more nucleotides (in multiple of threes of not) from a segment of DNA

A

Deletion

93
Q

Permanent change in DNA sequence caused by the addition of nucleotides (in multiple of three or not)

A

Insertion mutation

94
Q

Small deletions or insertions of base pairs involved is three or multiple of three

A

Non-frameshift mutation

95
Q

The reading frame of non-frameshift mutation will remain ___ and an abnormal protein lacking or gaining one or more amino acids will be ____

A

Intact; synthesize

96
Q

The number of affected coding bases is not a multiple of threes

A

Frameshift mutations

97
Q

The frameshift mutation results in an altered reading frame if the DNA strand typically results in incorporation of a ___ number of incorrect amino acids followed by a premature ____ codon

A

Variable; stop

98
Q

The frameshift mutation results in an altered reading frame if the DNA strand typically results in incorporation of a ___ number of incorrect amino acids followed by a premature ____ codon

A

Variable; stop

99
Q

Characterized by amplification of a sequence of three nucleotides

A

Trinucleotide-Repeat mutations

100
Q

Specific nucleotide sequence that undergoes amplication differs in various disorders, almost all affected sequences share the nucleotides ____ and ___

A

Guanine (G); cytosine (C)

101
Q

These disorders are caused by expansion in the number of 3-bp repeats

A

Triple repeat expansion disorders

102
Q

Triplet repeat expansion disorders include (4)

A

fragile X syndrome
myotonic dystrophy
Huntington disease
spinocerebellar ataxias

103
Q

Triple repeat expansion disorder can result to loss of protein production when gene becomes ____

A

Hypermethylated

104
Q

Triple Repeat Expansion Disorders

Some can cause disease through a mechanism other than decreased protein production like in Huntington disease, expansion causes the gene product to have a _____ effects on the ____

A

Toxic; neurons

105
Q

For most triplet repeat disorders, there is a clinical correlation to the size of the expansion, with a greater expansion causing more severe symptoms and having an earlier age of disease onset

A

Anticipation

106
Q

Thread-like structures found within the nucleus of a cell

A

Chromosome

107
Q

Chromosome contains the ___ material

A

Hereditary

108
Q

Humans have ___ chromosomes organized into ___ pairs

A

46; 23

109
Q

Chromosome is an organized structure where the DNA is tightly packed with histones forming the ____

A

Chromatin

110
Q

Each chromosome is made up of identical copies, called ____, held together by _____.

A

Sister chromatids; centromere

111
Q

Tips of the chromosome are guarded by ____, which prevent from ____

A

Telomeres; fraying

112
Q

Chromosomes are the foundation of ____, holding the information of our ____ and shaping the _____we inherit

A

Heredity
Ancestry; traits

113
Q

The chromosome’s complex structure allows for the precise ____ and transmission of _____

A

Replication; genetic information

114
Q

Chromosomal disorders variation (5)

A

Variation in chromosome number
Variation in chromosome size
Variation in the arrangement of chromosome segments
Variation in the number of chromosome segments
Variation in chromosome morphology

115
Q

Any exact multiple of the haploid number of chromosomes (23)

A

Euploid

116
Q

Type of polyploidy (1)

A

Triploidy

117
Q

Types of aneuploidy

A

Monosomy
Trisomy

118
Q

Euploid cells with more than the normal diploid number of 46 (2n) chromosomes: 3n, 4n

A

Euploid

119
Q

Those with 3 haploid sets of chromosomes (3n)

A

Triploidy

120
Q

An error occurs in meiosis or mitosis and a cell acquires a chromosome complement that is not the exact multiple of 23

A

Aneuploidy

121
Q

Occur when only 1, instead of the normal 2, of a given chromosome is present

A

Monosomy

122
Q

In humans, most autosomal monosomies appear to be ____ early in development, and survival is possible in mosaic forms except in ____

A

Lethal
Turner syndrome (45,X)

123
Q

Results from complete or partial monosomy of the X chromosome

A

Turner Syndrome 45,X

124
Q

Turner syndrome characterized primarily by ____ in phenotypic females

A

Hypogonadism

125
Q

the failure of chromosomes to disjoin normally during meiosis

A

Nondisjunction

126
Q

Characterized by the presence of 3 chromosomes, instead of the normal 2, of any particular chromosome

A

Trisomy

127
Q

Monosomy is the most common sex chromosome abnormality in ____, affecting about ___ in ____ live-born females

A

Females
1; 2500

128
Q

Most common form of aneuploidy

A

Trisomy

129
Q

Trisomy 21

A

Down syndrome

130
Q

Trisomy 18

A

Edwards syndrome

131
Q

Trisomy 13

A

Patau syndrome

132
Q

47, XXY

A

Klinefelter syndrome

133
Q

Most common of the chromosomal disorders and is a major cause of mental retardation

A

Down Syndrome or Trisomy 21

134
Q

Approximately 1% of Down syndrome patients are ____

A

Mosaics

135
Q

Male hypogonadism that occurs when there are two or more X chromosomes and one or more Y chromosomes

A

Klinefelter syndrome

136
Q

Loss of a portion of a chromosome

A

Deletions

137
Q

Most are ____ but rarely terminal deletions may occur

A

Interstitial

138
Q

Formation of a ring chromosome by a break in each arm, loss of the terminal segments and union of the centric segment

A

Ring chromosome

139
Q

The presence of extra genetic material from the same chromosome

A

Duplication

140
Q

breaks are in the 2 opposite arms of the chromosome and include the centromere

A

Pericentric inversions

141
Q

Occur when a piece of a chromosome broken at 2 points is incorporated into a break in another part of a chromosome

A

Insertion

142
Q

Occur when a piece of a chromosome broken at 2 points is incorporated into a break in another part of a chromosome

A

Insertion

143
Q

Consist of 2 copies of the same chromosome arm joined through a single centromere and forming mirror images of one another

A

Isochromosome

144
Q

Involve the transfer of material from one chromosome to another

A

Translocation

145
Q

Result of breaks in nonhomologous chromosomes with reciprocal exchange of the broken segments

A

Balanced Reciprocal Translocation

146
Q

Translocation between two acrocentric chromosomes

A

Robertsonian Translocation or Centric Fusion

147
Q

Robertsonian Translocation or Centric Fusion significance also lies in the production of ____

A

Abnormal progeny

148
Q

refers to traits that are caused by a combination of inherited, environmental, and stochastic factors

A

Multifactorial inheritance

149
Q

refers to traits that result from the additive effects of multiple genes

A

Polygenic inheritance

150
Q

Example of Triplenucleotide-Repeat Disorder (7)

A

Dentatorubral-pallidoluysian atrophy
Fragile-X syndrome
Friedreich’s ataxia
Hungtington’s disease
Myotonic dystrophy
Spinobulbar muscular atrophy
Spinocerebellar ataxia

151
Q

Example of trisomy syndrome (3)

A

Trisomy 13 (Patau syndrome)
Trisomy 18 (Edwards syndrome
Trisomy 8 (mosaicism)

CYTOGENETICS (3 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions