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Bio 140 Cyto > Cyto Flashcards > Flashcards

Cyto Flashcards

1
Q

Hybrid science which attempts to correlate cellular events, especially those of the chromosomes, with genetic phenomena

A

Cytogenetics

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2
Q

Cytogenetics is the combination of?

A

Cytology and Genetics

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3
Q

Steps of the cell cycle

A

G1 -> S -> G2 -> M

G1 - Prepare to Grow 10H
S - Replication 9H
G2 - Prepares to divide 4H
M - Mitosis/Meiosis 1H

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4
Q

Which steps of the cell cycle is considered Interphase?

A

G1, S, G2

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5
Q

Step in the M-phase that consists of:

  • Condensation of chromosomes
  • Each chromosome is already doubled
A

Prophase (1/2)

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6
Q

Step in the M-phase that consists of:

  • Mitotic Spindle Formation (Microtubules become spindles)
  • Centromeres located at polar ends of cell
A

Metaphase

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7
Q

Point of attachment for centromeres and spindles

A

Kinetochore

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8
Q

Step in the M-phase that consists of:

  • Pulling apart due to progressive shortening of spindles
  • Separation of chromosomes
A

Anaphase (1/2)

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9
Q

Once chromosomes are separated, they are now considered ______________. (2 words)

A

Sister Chromatids

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10
Q

Step in the M-phase that consists of:

  • Formation of Nuclear Envelope
A

Telophase (hehe mb)

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11
Q

Differentiate Meiosis I and Meiosis II

A

Meiosis I - Reductional Division (Ploidy decreases)

Meiosis II - Equational Division (Ploidy stays the same)

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12
Q

Generalized Parts of Chromosome (3)

A

P arm - shorter arm
Q arm - longer arm
Centromere

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13
Q

consists of a p and q arm

A

Chromatid

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14
Q

DNA-protein structures found at each end of a chromosome

Protect the genome from degradation

A

Telomere

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15
Q

Black bands

Gene-poor

Not actively transcribing

In interphase they are condensed and tightly packed

Made up of repeated satellite DNA

Can silence euchromatic gene expression

30-nm fiber

A

Heterochromatin

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16
Q

Also called the Primary (1°ry) constriction

Region where kinetochore proteins are located

Binds two sister chromatids together

Made up of repeated α-satellite DNA

A

Centromere

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17
Q

White band

Actively transcribing

More open/loosely packed

Allow recruitment of RNA polymerase complexes and gene regulatory proteins to initiate transcription

Made up of nucleosomes

11-nm Fiber

A

Euchromatin

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18
Q

Any narrowing or constricted point in the chromosome other than the centromere

Site of Nucleolar Organizer Region (NOR)

18S and 28S ribosomal genes that synthesize rRNA for ribosomes

Forms a satellite at the distal end of the chromosome

A

Stalk/ 2°ry constriction

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19
Q

A part of the chromosome that is separated from the rest via a secondary constriction

Used as markers in research

A

Satellite

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20
Q

Types of Chromosomes based on Number and what does it mean

A

Monad - only one sister chromatid

Dyad - two sister chromatids

Tetrad
- Four sister chromatids
- Two homologs during synapsis pairing

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21
Q

Types of chromosomes based on the number of centromeres and define.

A

Univalent - Only one centromere; monad or dyad

Bivalent - two centromeres; only tetrad

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22
Q

Types based on locations of centromeres

A

Metacentric
Submetacentric
Acrocentric
Telocentric

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23
Q

Type of chromosome where both arms are equal in length

A

Metacentric

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24
Q

Type of chromosome where one arm is slightly longer than the other

A

Submetacentric

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25
Q

Type of chromosome where one arm is significantly longer than the other

A

Acrocentric

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26
Q

Type of chromosome where the centromere is located at the telomeres

A

Telocentric

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27
Q

T/F Prophase 1 in meiosis is less elaborate than in Mitosis

A

F, Prophase 1 in meiosis actually has 5 stages and is more elaborate

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28
Q

5 stages in Prophase 1

A

Leptotene
Zygotene
Pachytene
Diplotene
Diakinesis

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29
Q

Stage in Prophase where chromosomes become visible

A

Leptotene

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30
Q

Stage in Prophase where Chromosomes start to pair

A

Zygotene

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31
Q

Stage in Prophase where crossing over takes place

A

Pachytene

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32
Q

Stage in Prophase where Homologous chromosomes start to move away

A

Diplotene

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33
Q

Stage in Prophase where Chromosomes condense to their greatest extent; nucleolus disappears, fragments of nuclear envelope disperse

A

Diakinesis

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34
Q

Point of contact between two homologous chromosomes for recombination

A

Chiasma

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35
Q

Differentiate mitosis and meiosis

A

Mitosis:
- One division
- 2 daughters
- genetic identical
- same # of chromosomes in parents and daughter
- Occur in somatic cells
- Occur throughout life cycle
- Used for growth, repair, and asexual reproduction

Meiosis:
- Two divisions
- 4 daughters
- recombinant DNA
- Haploid product
- Occurs in gametes
- Limited occurance
- Used for genetic diversity

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36
Q

DNA where proteins of the spindle fibers bind

A

Centromeric DNA

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37
Q

DNA where ends of chromosomes that form hairpin loops to facilitate DNA replication

A

Telomeric DNA

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38
Q

T/F Ends of chromosomes stay the same length at each division.

A

F, ends of the chromosomes get shorter every time the cells divide,
because part of the bases are used to template off of themselves

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39
Q

Ribozyme that makes telomeres longer

Contains a necessary piece of RNA which serves as the template for synthesizing the new strand

Some cancer cells have overexpressed ___________ that make cancer cells live “forever”

A

Telomerase

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40
Q

Formed during Pachytene stage of Prophase I between two (2) homologs

Resembles a zipper

Made of central and lateral elements

A

Synaptonemal Complex

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41
Q

Two types of specialized chromosomes

A

Polytene Chromosomes and Lampbrush Chromosomes

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42
Q

Giant chromosomes found in larval stages of Dipteran insects

Found in
Salivary glands, Midgut, Malpighian tubules

Formed by repeated chromosome synthesis without cell division

“Puffs” - actively transcribed regions

A

Polytene Chromosomes

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43
Q

Appearance similar to the brushes used to clean street lamps

Isolated from the diplotene stage of prophase I of meiosis in most animals, particularly in amphibians

A

Lampbrush Chromosomes

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44
Q

Lampbrush chromosomes consist of

A

Chromomere - Condensed area that is repeated along main axis

Lateral loops - Extended less coiled dna emanating from chromomeres

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45
Q

Give the ploidy levels:
Spermatogonium (x)
Spermatocyte (y)
spermatids (z)
sperm cells (w)

A

Spermatogonium (2n)
Spermatocyte (2n)
spermatids (n)
sperm cells (n)

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46
Q

Cells that induce spermatocyte to undergo meiosis

A

Sertoli Cells

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47
Q

What is the ploidy level of U, V, W, X, Y, and Z

Oogonium (W)
Primary oocytes (X)

[Meiosis I halted]

[Puberty, Meiosis I resumes]

Secondary oocyte (Y)

1st Polar Body (Z)

[Meiosis II halted]

[Fertilization commences; Meiosis II resumes]

Ovum (U), 2nd polar body (V)

A

Oogonium (2n)
Primary oocytes (2n)

[Meiosis I halted]

[Puberty, Meiosis I resumes]

Secondary oocyte (n)

1st Polar Body (n)

[Meiosis II halted]

[Fertilization commences; Meiosis II resumes]

Ovum (n), 2nd polar body (n)

As long as Meiosis I has not continued, 2n

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48
Q

When are human chromosomes usually observed for sex determination, why?

A

During Metaphase because it is during metaphase that they are most condensed

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49
Q

T/F Chromosome number does not vary among species and bears little relation to the complexity of the organism

A

F, It varies tremendously among species

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49
Q

T/F The nucleus of each somatic cell contains a fixed number of chromosomes that is characteristic of a particular species

A

T

50
Q

Non-sex chromosomes

A

Autosomes

51
Q

Chromosomal Systems of Sex determination

A

X-Y
X-0
Z-W
Haplo-Diplo

52
Q

Common in mammals

Female is default gender

___-Chromosome contains factors triggering male development

A

X-Y System

Y-Chromosomes

53
Q

Systemof sex determination wherein Males produce gametes with either an X chromosome or with no sex chromosome

A

X-0 System

54
Q

Common in birds

Default gender is male

___ Chromosome triggers female development

Also present in bees and moths

A

Z-W System

55
Q

Peculiar to Hymenoptera

Can develop from unfertilized or fertilized egg, this determines if they are male or female

A

Haplo-Diplo System

Added Context:
If there is only one copy of the gene, because the animal is haploid, then the
animal develops as a male.

If there are two copies (representing two chromosomes) and they differ in
their DNA sequences, then the animal is female.

56
Q

Dosage Compensation Mechanism for X-Linked Genes in Mammals

  • Random inactivation of one of the X chromosomes
  • Expressed as a BARR body
A

X-Chromosome Inactivation

57
Q

Condensed and (mostly) inactivated X chromosome (Xi)

Lyonization/ heterochromatization of one chromosome leaves one transcriptionally active X, equalizing gene dose between the sexes

Characterized by:
- High levels of DNA methylation
- Low levels of histone acetylation
- Generally random
- Generally irreversible

A

BARR Body

58
Q

How to calculate Number of Barr bodies?

A

n-1, where n=number of X chromosomes

59
Q
  • Region in the X chromosome crucial for inactivation
  • Contains genes that code for non-translated RNA sequences that are involved in X chromosome inactivation
A

X Inactivation Center (XIC)

60
Q

Mechanisms of X inactivation (2)

A

Xist and Tsix genes

61
Q

Encodes an X inactive specific transcript RNA that binds to a specific site on one of the X chromosomes

A

Xist gene (X-Inactivated Specific Transcript)

62
Q

Overlaps with the Xist gene but is complementary or opposite to it

Believed to be an antagonist of the Xist gene in that X chromosomes lacking this gene are inactivated more easily and quickly

A

Tsix gene

63
Q

X and Y chromosome pairing during prophase I is facilitated by:

A

Pseudoautosomal Regions

64
Q
  • Characteristics of pseudoautosomal regions:
A
  • present as homologous copies in X and Y chromosomes
  • they are not inactivated in the X chromosome
  • crossing-over takes place in X and Y in male cells
  • genes in this region are not linked to either X or Y chromosome
65
Q
  • Found in placental and marsupial mammals
  • Intronless
  • Code for the transcription factor protein for male sex determination
  • member of the high mobility group (HMG)-box family of DNA-binding protein
A

Sex-determining region of the Y (SRY)

66
Q

Syndrome caused by:

  • translocation of part of the SRY region to the X chromosome
  • 4-5 individuals in 100,000
  • With small testis and varying degrees of gynecomastia
A
  • XX Male Syndrome (de la Chapelle syndrome)
67
Q

Two main changes observed in chromosomal aberrations

A

Numerical and Structural changes

68
Q

Types of Numerical Aberrations

  • Too many or too few
A

Aneuploidy

Euploidy

69
Q

Types of Structural Aberrations

  • Total # same, structure change lang
A

Deletion
Duplication
Inversion
Translocation

70
Q

2 main methods of detection

A

Karyotyping

FISH

71
Q
  • Cytological technique that demonstrates chromosomal aberrations
  • Makes use of cultured cells at late prophase or metaphase
  • Chromosomes are arranged from largest to smallest and according to
    centromere location
  • Chromosomes are identified based on the banding patterns revealed
    by stains
A

Karyotyping

72
Q

Types of Karyotyping Banding (5)

A
  • G-banding
  • Q-banding
  • C-banding
  • T-banding
  • R-banding
73
Q
  • Giemsa Stain
  • alternating dark and light bands
A

G-Banding

74
Q
  • Quinacrine stain
  • fluorescent
A

Q- Banding

75
Q
  • Giemsa
  • centromere focused
A

C-Banding

76
Q
  • Acridine orange
  • telomere focused
A

T-Banding

77
Q
  • Giemsa stain
  • Reverse of G banding
A

R-Banding

78
Q

Karyotyping method wherein:

  • Sampling fetal cells shed into the amniotic fluid
    *Used on fetuses at 15-16 weeks of gestation
A

Amniocentesis

79
Q

Karyotyping method wherein:

*Uses cells from the chorionic villi, whose chromosomes match those of the fetus because they all descend from the fertilized ovum
*Used on fetuses at 10 weeks of gestation

A

Chorionic Villus Sampling

80
Q

Karyotyping method wherein:

  • Makes use of fetal cells separated from the mother’s blood stream
  • A device called fluorescence-activated cell sorter (FACS) separates fetal cells by identifying surface characteristics that differ from those on the mother’s cells
  • Safer than the other two techniques because it reduces the risk of a miscarriage while fetal cells are being sampled
A

Fetal Cell Sampling

81
Q
  • Rapid technique to identify the different chromosomes
  • Does not require cell culturing
  • Makes use of DNA probes that are complementary to DNA sequences found only on one chromosome type
  • Probes are attached to molecules that fluoresce when illuminated

Lumalangoy (Swims in english)

A

Fluorescent In-Situ Hybridization (FISH)

82
Q

Shows a karyotype where each chromosome type is fluoresced by a unique color

A

Chromosome Painting

83
Q

Change in chromosome number involving whole sets of chromosomes

A

Euploidy

84
Q

Change in chromosome number involving single whole chromosomes

A

Aneuploidy

85
Q

Euploids whose chromosome number is more than the diploid condition by multiples of the haploid (n) chromosome number

A

Polyploids

86
Q

produced when cytokinesis is interfered either during mitosis or meiosis

Mitosis:
- Chromosomes remain dyads
- Failure of separation of sister chromatids

Meiosis:
- Gametes produced are unreduced
- Failure of separation of homologous chromosomes

A

Polyploids

87
Q

T/F Viable polyploids are common in animals because self-fertilization of unreduced gametes can commonly take place

A

F, Rare in animals because self fertilization rarely occurs

88
Q

T/F Polyploidy is more common in plants

A

T

89
Q

T/F Tetraploids (4N) are usually fertile because chromosome pairing is possible during meiosis

A

T

90
Q

T/F Tetraploids are usually less fit than their diploid counterparts

A

F, more fit

91
Q

Induces polyploidy in plants by preventing spindle fiber formation

A

Colchicine

92
Q

Self-fertilization of unreduced gametes

A

Autotetraploidy

93
Q

Sterile hybrids from different species double their chromosomes so as to undergo regular meiosis

A

Allotetraploidy

94
Q
  • Change in chromosome number involving single whole chromosomes
  • The chromosome number is not an exact multiple of the haploid number of the species
  • Results in non-disjunction of one or more homologous chromosome pairs either during meiosis I or meiosis II
A

Aneuploidy

95
Q

Aneuploidy in humans related to their Sex chromosomes (4)

A
  • Turner Syndrome (45, X0)
  • Metafemale Syndrome (47, XXX)
  • Klinefelter Syndrome (47, XXY)
  • Jacobs Syndrome (47, XYY)
96
Q

Aneuploidy in humans related to their Autosomes

A
  • Down Syndrome (Trisomy 21)
  • Edward Syndrome (Trisomy 18)
  • Patau Syndrome (Trisomy 13)
  • Warkany Syndrome (Trisomy 8)
97
Q
  • Women lacking an X chromosome
  • 1 in 2000 females
  • Short, stocky
  • Flat-chested
  • With folds of skin at the back of the neck (50% of affected individuals)
  • Wide-set nipples
  • Has undeveloped ovaries
  • Verbal IQ normal
  • Performance IQ lower than average
  • Sterile
  • Not correlated with age of the mother
A

Turner Syndrome (45, X)

98
Q
  • 1 in 1000 females
  • Phenotypically female
  • Rarely mentally retarded, although they may be less intelligent than their siblings
  • Mental IQ reduces as the number of X chromosomes increases
  • Irregular menstrual cycle
  • May be tall or short
  • Others are flat-chested
  • May be fertile, although may produce eggs with two X chromosomes
  • Incidence of offspring increases with maternal age
  • Non-disjunction of X chromosomes in aging oocytes
A

Metafemale Syndrome (47, XXX)

99
Q
  • 1 in 500 males
  • With female-like breast development (Gynecomastia)
  • However, it only occurs in 25% of those with 47 XXY
  • With rudimentary testis
  • With long arms and legs
  • Large hands and feet
  • No pubic or facial hair
  • Usually sterile
  • Slow to learn, but not mentally retarded
  • Mental retardation sets in as more X chromosomes are added
  • Incidence also increases with maternal age (mid to late 30’s)
A
  • Klinefelter Syndrome (47,XXY)
100
Q
  • 1 in 1000 males
  • Studied 197 inmates in Carstairs, a high-security mental hospital in Scotland
  • 7 out of 12 men with unusual chromosomes had an extra Y
  • attributed to “congenital criminals” due to these patients’ violent or aggressive behavior
  • no clear correlation between extra Y and aggressive behavior
  • great height
  • acne
  • speech and reading problems
  • may be mentally retarded
A
  • Jacobs Syndrome (47, XYY)
101
Q
  • 1 in 800 to 1000 births
  • Patients resembled people of Mongolian heritage
  • Poor muscle tone
  • Flat face
  • Eyes slant upward
  • Abnormally shaped ears
  • Single deep crease across palms
  • Joints extremely flexible
  • Underdeveloped fifth fingers
  • With epicanthal folds (skin folds at inner corners of the eyes)
  • Gap between first and second toes
  • Large tongue
  • People affected with this syndrome has increased risk of getting affected with Alzheimer’s disease beyond 40 years old
A
  • Down Syndrome (Trisomy 21)
102
Q
  • 1 in 6000 individuals
  • heart defects
  • displaced liver
  • growth retardation
  • oddly clenched fists
  • narrow and flat skull
  • abnormally shaped and low-set ears
  • small mouth and face
  • unusual or absent fingerprints
  • short large toes
  • “rocker-bottom” feet
  • 90% of newborns do not survive the first 6 months
A

Edward Syndrome (Trisomy 18)

103
Q
  • 1 in 15000 individuals
  • fusion of the eyes during development, forming one large eye-like structure in the center of the face (CYCLOPIA)
  • malformed nose
  • cleft lip/palate present
  • extra fingers or toes may appear
  • some with extra spleen
  • abnormal liver structure
  • rotated intestines
  • abnormal pancreas
  • more than 80% die during the first month
  • some survive up to adulthood, but they do not progress developmentally beyond the
    six-month level
A

Patau Syndrome (Trisomy 13)

104
Q
  • Maternal meiotic errors
  • Nondisjunction of chromosome in the egg of the mother
  • causes severe defects on the
    developing fetus and is almost
    always perinatal lethal
  • accounts for 0.8% of pregnancy
    losses
  • 1 in 25,000 to 1 in 50,000
  • Prominent forehead
  • Deep set eyes
  • Hypertelorism with broad nasal root
  • Thick everted lips
  • Prominent ears
  • Camptodactyly
  • Deep plantar and palmar creases
  • Wilms tumors
  • Myelodysplasia
  • Myeloid leukemia
A
  • Complete Warkany Syndrome (Trisomy 8)

Complete is different from Mosaic (T8MS)

105
Q
  • 1 in 2500 – 1 in 5000
  • occurs when only a portion of these cells contains three copies of chromosome 8, while others contain the usual two copies of that chromosome
  • hydronephrosis (swelling of kidney), cryptorchidism (undescended testes),
A
  • Mosaic Warkany Syndrome (T8MS/Trisomy 8 Mosaic Syndrome)
106
Q

Structural aberration where in there is loss of a chromosomal portion or segment

A

Deletion

107
Q

Structural aberration where in there is repetition of a portion or segment

A

Duplication

108
Q

Structural aberration where in there is switching a chromosomal portion or segment within the same chromosome

A

Inversion

109
Q

Inversion that does not involve the centromere

A

Paracentric inversion

110
Q

Inversion that involve the centromere

A

Pericentric inversion

111
Q

Structural aberration where in transfer of a chromosomal portion or segment to another non-homologous chromosome

A

Translocation

112
Q

Translocation where in no net genetic material is gained or lost

A

Reciprocal transloction

113
Q

Translocation where in some genetic material is gained or lost

A

Non-reciprocal translocation

114
Q

Translocation where in it occurs between two acrocentric chromosomes

A

Robertsonian translocation

115
Q
  • Affected individuals have a high-pitched cry similar to the mewing of a cat
  • Low birth weight
  • Poor muscle tone
  • Small head
  • Impaired language skills
  • Mentally retarded
  • Rarely survives to teens
A

Cri du chat (5p-)

5p- = Deletion in the p arm of chrom 5

116
Q
  • deletion of segments q11 and q12 in chromosome 15
  • affected chromosome from the father
  • mentally retarded, obese
  • eats uncontrollably
  • small hands and feet
  • does not develop signs of puberty
  • Poor muscle tone, resulting in floppy infants
  • Can be treated with growth hormones
A

Prader Willi Syndrome (15q-) or PWS

15q- = deletion in the q arm of chromosome 15

deletion in the region including the SNRPN gene (encodes a component of the mRNA splicing system)

117
Q
  • deletion of same segments in chromosome 15 as in PWS
  • affected chromosome from the mother
  • Developmental delay
  • Speech impairment
  • Movement or balance disorder
  • Frequent laughter or smiling
  • Easily excitable
  • Frequent flapping of arms
  • Jerky movements
  • Also known as the happy puppet syndrome
A
  • Angelman syndrome (15q-)

15q- = deletion in the q arm of chromosome 15

deletion in a gene of the Ubiquitin Pathway (UBE3A)

118
Q
  • Still with 3 copies of chromosome 21s
  • Extra 21 is attached to Group D chromosome (14 or 15)
  • With 46 chromosomes
  • Phenotypically identical with trisomy Down
  • Inherited from translocation carrier
A

Translocation/Familial Down Syndrome

119
Q
  • Associated with reciprocal translocation between chromosomes 9 and 11
  • Leads to disruption of the DIBD 1 gene in chromosome 11
  • People exhibit manic episodes sometimes with extreme depressive episodes
A
  • Bipolar Affective Disorder (Manic Depression)
120
Q
  • Chromosomes with identical arms
  • Formed when, during anaphase,
    the centromeres part in the
    wrong plane
  • Result in loss of some genes and
    duplication of other genes
  • May be genetically or
    environmentally induced
A

Isochromes

121
Q
  • Abnormal fusion of two fragments from nonhomologous chromosomes, each with a centromere
A

Dicentric Chromosomes

122
Q
  • Occur when the ends of a chromosome are broken and the subsequent new ends fuse to form a ring
A

Ring Chromosomes

123
Q

Have a break, have a kitkat #notsponsored

A

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Bio 140 Cyto (1 decks)

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