Brainscape's Knowledge GenomeTM

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


See full index

cytogenetics > midterms 25% > Flashcards

midterms 25% Flashcards

1
Q

● A condition when during the heterozygous
condition (Bb) the dominant allele does not
completely overpower the recessive allele.
● Therefore, there is a “blending” of the traits.

A

incomplete/partial dominance

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

A condition when during the heterozygous
condition (Bb) the dominant allele does not
completely overpower the recessive allele so
both traits are seen at the same time.
- No recessive allele at all

A

codominance

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

This occurs when both alleles are
expressed equally in the phenotype of the
heterozygote.

A

Codominance

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

● Inheritance pattern for traits that are controlled
by more than one gene.
● An example would be: height, skin complexion,
eye color, hair color, etc.

A

polygenic inheritance

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

● Genes capable of causing death of organism
carrying them
- Typically the consequence of mutation

A

lethal genes

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

Manx cats are heterozygous for a dominant mutation that
results in no tails (or very short tails), large hindlegs, and a distinctive gait. The mating of two Manx cats yields two Manx kittens for each normal, long-tailed kitten, rather than 3:1 as would be predicted from Mendelian genetics. Therefore, the mutation causing the Manx cat phenotype is likely a(n)
_____ allele.
a. Codominant
b. Epistatic
c. Lethal
d. Sex-linked

A

lethal

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

● When one gene affects multiple characteristics.
● It refers to the expression of multiple
traits by a single gene.

A

Pleiotropy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q
  • The transmission of traits through cytoplasmic genetic factors such as mitochondria or chloroplasts.
    ■ These cytoplasmic organelles are usually inherited with the egg’s cytoplasm from the mother
A

● Maternal inheritance (also called cytoplasmic
inheritance)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q
  • An individual’s phenotype is controlled
    by gene products in the genome (e.g.
    proteins) of the mother (oocyte).
A

Maternal effects (also called maternal
influence)

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

A cell with a mutant and normal
mitochondria

A

heteroplasmy

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

A cell has a uniform set of
mitochondria: all completely
normal mtDNA or completely
mutant mtDNA

A

homoplasmy

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

Only the mother pass on the
mitochondrial DNA

true or false

A

true!

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q
  • a complementary cross
    between the phenotypes of the female and the
    male
A

Reciprocal cross

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

● Refers to the inheritance of an agent
(microorganisms, parasites, viruses, bacterias,
etc.) that can be inherited with cytoplasm.

A

INFECTIOUS INHERITANCE

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

_______ are formed due to the differential
methylation of paternal and maternal alleles.

A

Imprints

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q
  • low levels of gene
    expression
  • Genes are imprinted
  • Not expressed at all
A

Methylated DNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q
  • higher level of gene
    expression
  • Genes are not imprinted
  • Will be expressed
A

Unmethylated DNA

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

Presence of two or more populations of cells
with different genotypes in one individual who
has developed from a single fertilized egg.

A

mosaicism

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

This can be a result of X-inactivation or
mutation
- Both could lead to the development of
multiple cell populations

A

mosaicism

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

It develops during early
stage of embryonic development
(development of multiple cell
populations)

A

Mosaicism

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

it can be seen usually on the
later stage of life or when the individual
was already born

A

Vitiligo

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

refers to the
marking process in which an offspring
expresses a gene that is inherited from
one parent but not both.

A

Genomic Imprinting

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

used to analyze the patterns of
inheritance of a particular trait that runs in the
family.

A

Pedigrees

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

Use a__________ if the gender is not yet known, a
circle or a square if the gender is known.

A

diamond

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

○ If the trait is ________, one of the
parents must have the trait.

A

dominant

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

__________ traits skips the generation of
the affected family.

A

Recessive

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

✔ Only males are affected

A

Sex linked

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

✔ Parents doesnt have to be affected
✔ Skips generation (meron sa anak, sa parent
wala)

A

Sex linked recessive

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

✔ Does not skip a generation

A

Autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q
  • One mutated copy of the gene in each cell is
    sufficient for a person to be affected
  • Each affected person usually has one affected
    parent
A

Autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q
  • Two mutated copies (homozygous) of the gene
    are present in each cell
  • Affected person usually has unaffected parents
    who each carry a single copy of the mutated
    gene (and are referred to as carriers)
A

Autosomal recessive

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

● Associated diseases are located in the X
chromosomes

A

X-LINKED DOMINANT INHERITANCE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q
  • Always expressed in the males
  • Expressed in a female homozygote but very
    rarely in a heterozygote
A

X-linked Recessive trait

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

● Only males are affected
● It is based from father to all sons
- Because it is y-linked
● It does not skip generations

A

Y-linked Dominant

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

● Appears in both sexes with equal frequency
● Trait tend to skip generations
● Affected offspring are usually born to unaffected
parents

A

Autosomal Recessive

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

If most of the males in the pedigree are
affected, then the disorder is ?

A

X-linked

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

If it is a 50/50 ratio between men and women
the disorder is?

A

autosomal

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

● Both males and females are affected; often more
females than males are affected
● Does not skip generations.
● Affected sons must have an affected mother

A

X-linked Dominant

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

● Affected daughters must have either an affected
mother or an affected father
● Affected fathers will pass the trait on to all their
daughters
● Affected mothers if heterozygous will pass the
trait on to 1/2 of their sons and 1/2 of their
daughters

A

X LINKED DOMINANT

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

● It is NEVER PASSED FROM FATHER TO SON
● All daughters of affected fathers are carriers

A

X LINKED RECESSIVE

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

occurs when a homologous
pair of chromosomes fails to disjoin or separate
during cell division.

A

Nondisjunction

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

________ NONDISJUNCTION
● Failure of the chromosomes to disjoin and pass
to opposite poles
● Major cause of chromosomal abnormalities

A

MEIOTIC

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

● 75% occurs in oogenesis, where the
probability of nondisjunction increases with
maternal age
● Almost 80% occur in the first meiotic division

A

meiotic nondisjunction

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

During this stage, sister copies of DNA are
supposed to break apart and chromosomes are pulled
by the spindle

A

Anaphase

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

describes the chromosomal
complement of an individual.

A

Karyotype

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

petit, short arm

A

p

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

p-arm
○ Region 1
■ Contains __ band

A

1 band

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

p-arm
○ Region 2
■ Contains __ bands

A

2 bands

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

q-arm
○ Region 1
■ Contains __ bands

A

3 bands

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

q-arm

○ Region 2
■ Contains __ bands

A

8 bands

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

69, XXX ; 69, XXY ; 69, XYY
- 3 sets of chromosome
- Happens when ovum is fertilized by 2
sets of sperm

A

TRIPLOIDY

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

4, XX,+21
- Gain of 1 chromosome

A

TRISOMY

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

45,X
- 1 chromosome is missing

A

MONOSOMY

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

47,XXX / 46,XX
- 2 population of cells: 1 with trisomy, 1
normal cells

A

MOSAICISM

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

________ deletion - 1 break in the chromosome
→ chromosome segment distal to the break gets
detached and is lost

A

Terminal

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

_________ deletion - 2 breaks in the
chromosome → chromosome segment distal to
the break gets reattached

A

Interstitial

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

● 2 breaks in the chromosome arm (pwedeng both
arm or isang arm lang)
● Nagflip upside down yung segments tsaka siya
nag reattach

A

INVERSION

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

When the inversion involves BOTH arms and involves the centromere

A

PERICENTRIC INVERSION

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

When the inversion involves ONLY ONE arm

A

PARACENTRIC INVERSION

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

This involves the long arm of chromosome 1 region 2 band 2; has two segments

A

duplication

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

● The chromosome break, another chromosome
break

A

translocation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

● The break occurs in the arm and they are fused
with each other
● The fragment that was cut off are lost during cell
division and it loses genetic material

A

ring chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

46.XY,r(9)(p12q21)

A

RING CHROMOSOME

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

formed when you have 1 break on its
arm: both in short and long arm, and the two
ends of the two arms fuse together because
they are sticky forming a ______ at the centromere

A

ring chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

46,XX,del(5)(q13q33)

A

interstitial

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

46,XY,del(4)(p16.3)

A

terminal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

Abnormalities based on cell chromosomal
constituent are
1.
2.

A

○ Constitutional
○ Somatic or acquired

68
Q

________ ABNORMALITY
● Found in ALL cells of the body
● Occurs very early in development

A

CONSTITUTIONAL

69
Q

_________ ABNORMALITY
● Present only in CERTAIN tissues or cells
● Cell types with different chromosome
compositions

A

SOMATIC OR ACQUIRED

70
Q

Abnormalities in chromosomes are produced
by the following, EXCEPT:

a. Misrepair of broken chromosomes
b. Improper recombination
c. Erroneous segregation during cell
division
d. DNA mutation

A

DNA MUTATION

71
Q

Nondisjunction that occurs during meiosis II
will NOT result in which of the following
chromosome number in the zygote?
a. Normal
b. Monosomy
c. Nullisomy
d. Trisomy

A

NULLISOMY

72
Q

Meiotic nondisjunction is more commonly
seen among which of the following?
a. Increasing maternal age
b. Increasing paternal age
c. Post-radiation in the young
d. Maternal infection

A

Increasing maternal age

73
Q

Single gene mutation is increased in which
of the following?
a. Oogenesis in elderly women
b. Spermatogenesis in elderly men
c. Both

A

SPERMATOGENESIS IN ELDERLY MEN

74
Q

Which of the following outcomes of
anaphase lag is almost always not
compatible with embryogenesis or live birth?
a. Monosomy of sex chromosomes
b. Trisomy of sex chromosomes
c. Monosomy of autosomes
d. Trisomy of autosomes

A

Monosomy of autosomes

75
Q

GIVE THE KARYOTYPE
Female with classic Trisomy 21

A

47,XX,+21

76
Q

Give the karyotype of Male with terminal deletion of chromosome 3, short arm, region 2, band 3, sub-band 1

A
  • 46,XY,del(3)(p23.1)
77
Q

45,X means

A

a female with monosomy X

78
Q

Karyotype of a female with triploidy

A

69,XXX / 69,XYY

79
Q

Karyotype of a female with triploidy

A

69,XXX / 69,XYY

80
Q

A female with balanced reciprocal
translocation with breakpoint in the long arm
of chromosome 7, region 2, band 3 and the
short arm of chromosome 10, region 3 band
2 sub-band 1

A
  • 46,XX,t(7;10)(q23;p32.1)
81
Q

individuals with a normal set of
chromosomes; no extra or missing; normal
human somatic cells are diploid, with two sets of
23 chromosomes

A

Euploidy

82
Q
  • with extra sets of chromosomes;
    caused by fertilization of an egg by > 1 sperm;
    not compatible with life; e.g. triploidy (69,XXX).
A

Polyploidy

83
Q
  • two or more genetically different
    cell lines
A

Mixoploidy

84
Q
  • with two cell populations
    originating from the same zygote
A

Mosaic

85
Q
  • arise from two different zygotes
A

Chimera

86
Q
  • missing a pair of homologs
    occuring during the preimplantation stage; lethal.
    ○ During this stage, baby may be aborted
A

Nullisomy

87
Q
  • one chromosome missing; occurs
    during embryonic stage; lethal and abort in 99%
    of cases;
A

Monosomy

87
Q
  • one chromosome missing; occurs
    during embryonic stage; lethal and abort in 99%
    of cases;
A

Monosomy

88
Q
  • gain of one chromosome: occurs
    during embryonic (1-2 weeks) or fetal (9-36
    weeks) stage;
A

Trisomy

89
Q

In NONDISJUNCTION,

1st Meiotic division results to = __ normal zygotes, 1
trisomic, __ monosomic

A

2 normal zygotes, 1 trisomic, 1 monosomic

90
Q

In NONDISJUNCTION,

2nd Meiotic division = __ trisomic zygotes, 1
monosomic

A

1

91
Q

● May occur at G1 (affects both chromatids) or
G2 (affects one chromatid) phase of cell
cycle.

A

STRUCTURAL ABNORMALITIES

92
Q

_____systems in the cell recognize and repair
broken chromosomes

A

Enzyme

93
Q

Repair can be either by joining the two ends or
??

A

capping ends with telomeres

94
Q

-
healed by adding telomere, if near the
telomere

A

Single break (terminal deletion)

95
Q
  • ring chromosome formation, duplication, interstitial deletion, inversion, translocation
A

Two or three breaks

96
Q

two breaks -> broken portion turned
upside down -> reattached
○ No loss or gain of genetic material ->
inversion carriers, normal

A

INVERSION

97
Q
  • inversion of a
    segment of the p or q arm and DOES NOT
    include the centromere
A

Paracentric inversion

98
Q
  • breaks occur in
    both short and long arms and INCLUDES
    the centromere in the inverted segment
A

Pericentric inversion

99
Q
  • loss of a segment of a chromosome;
    2 breaks between the centromere and telomere
    -> loss -> fusion of broken ends
A

Deletion

100
Q
  • transfer of a chromosome
    segment to another chromosome
A

Translocation

101
Q

involves exchange of genetic materials of non-homologous chromosomes
○ No loss or gain of chromosomes but with gene rearrangement -> physically And mentally normal

A

Reciprocal or balanced translocation -

102
Q

_________ translocation - involves
acrocentric chromosomes which have short p
arms called satellites

A

Robertsonian

103
Q

_________ translocation - involves
acrocentric chromosomes which have short p
arms called satellites

A

Robertsonian

104
Q

Robertsonian translocation - involves
acrocentric chromosomes which have short p
arms called ?

A

Satellites

105
Q

○ The two p arms or satellites are lost because they are not attached to a spindle fiber during mitosis

○ Total chromosome is 45 due to fusion of the two chromosomes

A

Robertsonian translocation

106
Q

Acrocentric chromosomes are __ 14,
15, __ and __ with short arms
(satellites) made up of rRNA

A

13, 14, 15, 21 AND 22

107
Q

-
occurs when the exchange of chromosome
material is UNEQUAL resulting in loss or gain of
genes
○ Causes significant clinical outcomes

A

Nonreciprocal or unbalanced translocation

108
Q
  • chromosomes with two identical arms
    ○ Arms mirror image of each other; both p or q arms
A

Isochromosomes

109
Q

● Study of chromosomes and their heredity
● The study of the physical size, structure,
and behavior of chromosomes.

A

CYTOGENETICS

110
Q

○ Dark stain regions -

A

heterochromatin

111
Q

Lightly stain regions -

A

euchromatin

112
Q

○ Dark bands
○ Heterochromatic
○ Rich in the base pairs A-T (Adenine
and Thymine)
○ Devoid or with inactive genes

A

G-BANDS

113
Q

○ Pale or bright bands
○ Euchromatic
○ Rich in G-C (Guanine and Cytosine)
○ Genes actively expressed

A

G negative bands

113
Q

○ Pale or bright bands
○ Euchromatic
○ Rich in G-C (Guanine and Cytosine)
○ Genes actively expressed

A

G negative bands

114
Q

● Fluorescent dye (Quinacrine, DAPI,
Hoeschst 3328)
● Patterns are similar to G banding
● Uses fluorescent microscope

A

Q-BANDING

115
Q

● A-T rich (fluorescing, heterochromatin)
● G-C rich (light regions, euchromatin)
● Applied for rapid ID of Y chromosome in
uncertain genitalia

A

Q-BANDING

116
Q

● Reverse of G-banding pattern
● Chromosomes are denatured by heat
before staining with Giemsa
● Patterns are similar to G banding

A

R-BANDING

117
Q

● Heat denatures = A-T rich (bright)
● Dark regions - G-C rich (euchromatin)
● Used to detect deletion of telomeres
which are dark bands

A

R-BANDING

118
Q

● Severe heat prior to staining (Giemsa or
combination of dye and fluorochromes)
● Identifies telomeres

A

T-BANDING

119
Q

● Giemsa
● Treated with alkali solution
● Stains centromeres

A

C-BANDING

120
Q

○ Most common SPECIMEN USED FOR
CYTOGENETIC TECHNIQUES
○ Preferred specimen for routine
cytogenetic studies of adult and
children

A

Heparinized peripheral blood

121
Q

○ Used in studying hematologic disorders

A

Bone marrow aspirates

122
Q

○ Used in Fibroblast cultures

A

Skin biopsies

123
Q

○ Most common specimen for prenatal
analysis

A

Amniotic fluid

124
Q

Fetal blood from the umbilical cord
○ Useful in ??

A

rapid karyotyping

125
Q

Chorionic villus is used for

A

prenatal analysis

126
Q

Chorionic villus is used for

A

prenatal analysis

127
Q

Tissues such as kidney, liver, muscle, and lung should be handled and transported with?

A

ice

128
Q

Excellent sources if obtained soon after death during autopsy or from a fetal loss

A

Tissues such as
kidney, liver, muscle,
and lung

129
Q

○ Single enzyme or multiple enzymes
synthesize copies of target nucleic
acid

A

Target amplification

130
Q

○ Most mature and widely used nucleic acid amplification method
○ In vitro chemical reaction that permits the synthesis of essentially limitless quantities of a targeted nucleic acid sequence
○ Uses DNA polymerase

A

Polymerase Chain Reaction

131
Q

○ Amplification products contain a sequence only present in the initial probes

A

Probe amplification

132
Q

○ The concentration of the probe or target does not increase
○ Concentration of label molecu;es attached to target nucleic acid increases
○ Uses multiple enzymes and probes with reduction of background noise to enhance target detection

A

Signal amplification

133
Q

A heat-stable DNA polymerase
An equimolar mixture of dNTPs
- (dATP, dCTP, dTTP)

A

pcr

134
Q

● DNA polymerase synthesizes a new DNA strand complementary to the DNA template in 5’ to 3’ direction

A

Extension/Elongation (72°C)

135
Q

● Cooled to permit the primers to anneal the target DNA in a sequence specific manner
● Polymerase binds to the primer-template hybrid and begins DNA synthesis

A

Annealing (50 - 65°C for 20-60 secs)

136
Q

● Reaction mixture is heated to separate 2 strands of target DNA

A

Denaturation (94 - 98°C for 20-30 secs)

137
Q

● Amplify ribonucleic acid (RNA) targets
● Complementary (cDNA) is produced first
from RNA targets, then cDNA is amplified
by PCR
● Detection/quantification of hepatitis C virus
(HCV) RNA and HIV-1

A

rt pcr

138
Q

● Target amplification and detection steps
occur simultaneously in the same tube
● PCR product is detected as it is
produced

A

REAL-TIME (HOMOGENOUS, KINETIC)
POLYMERASE CHAIN REACTION

139
Q

● Fluorescent dyes that preferentially bind to
double-stranded DNA (dsDNA)
● Decrease time required to perform nucleic
acid assays because there are no
post-PCR processing steps

A

REAL-TIME (HOMOGENOUS, KINETIC)
POLYMERASE CHAIN REACTION

140
Q

● Use of DNA probes on a chromosome spread.
● Used to detect and localize the presence or
absence of specific DNA sequences on
chromosomes

A

FISH

141
Q

________FISH
- Uses a computer assisted system
- E.g: Dual fusion probes

A

Multicolor

142
Q

________Karyotyping (SKY)
- Identify the chromosome using chromosome with same colors
- Multiple chromosomal aberrations
- White arrows identify some of the chromosome translocations

A

Spectral

143
Q
  • Uses a telomere probe → recognize 6 base repeat present at the ends of the chromosome
  • Confirms the presence or absence of telomeric regions
A

ALL-TELOMERE FISH

144
Q
  • Involves only co-hybridization of 2 DNA samples
  • Detects the copy number variation (CNV) of a DNA sequence
A

Comparative Genomic Hybridization

145
Q
  • Directly compares the DNA content
    of differentially labeled normal and
    tumor cell population by their
    co-hybridization to normal
    metaphase chromosome spreads
A

Comparative Genomic Hybridization

146
Q

○ Comparison of labeled normal and tumor cells by their hybridization to a series of genomic oligonucleotides
aligned on a glass slide that serves as probes

○ Hundreds to thousand of features can be placed in 1 solid surface

A

Microarray Hybridization/DNA Chip
Technology

147
Q

● Injection of a monodisperse suspension of particles (cells) into the center of a flowing stream of fluid (sheath)

● Passing through a small quartz capillary tube at a constant velocity

A

FLOW CYTOMETRY

148
Q

● Light scattered by the particle is collected by detectors positioned at a variety of angles Around the capillary

● Cross-sectional area, and size or complexity/granularity of the particle

● Fluorescent molecules or fluorochromes may be attached to the particles and are excited by the incident light → fluorescent emission

A

FLOW CYTOMETRY

149
Q

_________ at different angles - can
distinguish difference in size and internal
complexity

A

Light scattering

150
Q

Light emitted from fluorescent labeled
particles or antibodies - can identify cell
surface and ?

A

cytoplasmic antigens

151
Q

_________ cells express patterns of antigen
that are distinctly different from those of
their normal counterparts

A

Neoplastic

152
Q

Which of the following karyotypes show euploidy?

a.46, XX

b.69,XXX

c.45,X

d.47,XX,+21

A

46,xx

153
Q

The karyotype 46,XX,del(10)(q26.1q26.3) is an example of which chromosomal structural abnormality?

A

interstitial deletion

154
Q

The cells are committed to advance further into the cell cycle after passing through which point in the cell cycle?

A

G1 RESTRICTION POINT

155
Q

Which of the following structural chromosomal abnormalities result in significant loss of genetic information?

a.Balanced reciprocal translocation

b.Ring chromosome formation

c.Duplication

d. Inversion

A

RING CHROMOSOME

156
Q

Nondysjunction occurring during the first meiotic division can give rise to which of the following zygotes?

a.Both of the given options

b.Normal

c.Neither of the given options

d.Trisomic

A

TRISOMIC

157
Q

This is what we call to an individual if he/she is known to have symptoms of the disease or trait

A

AFFCTED INDIVIDUAL

158
Q

The affected individual that brings the family to the attention of a geneticist is called:

A

PROBAND

159
Q
  • check for DNA damage
    o If present, it will stop the cell cycle allow the cell to repair and continue the cell cycle
A

G1-S checkpoint

160
Q
  • check for damaged or unduplicated DNA
A

G2-M checkpoint

161
Q

Which of the following is true in constitutional abnormality?

a.An acquired abnormality

b.Occurs late in the development

c.Seen in mosaicism

d.Found in all cells of the body

A

d.Found in all cells of the body

162
Q

A mutation in the mitochondrial DNA may lead to the following diseases, EXCEPT:
A) MELAS
B) Encephalopathy
C) Myopathy
D) Renal cancer

A

d renal cancer

163
Q

Alternative forms of genes are called

A

alleles

cytogenetics (3 decks)

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