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CYTOGENETICS MIDTERMS > LESSON 1: CHROMOSOMAL STRUCTURE & MUTATION > Flashcards

LESSON 1: CHROMOSOMAL STRUCTURE & MUTATION Flashcards

1
Q
A
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2
Q

the largest (246 million nucleotide bp)

A

Chromosome 1

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3
Q

the smallest (48 million nucleotide bp)

A

Chromosome 2

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4
Q

is a trait or group of traits resulting from the transcription and translation of these genes.

A

Phenotype

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5
Q

is the DNA nucleotide sequence responsible for a phenotype.

A

Genotype

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6
Q

3 CATEGORIES OF DNA MUTATION

A

Gene Mutations
Chromosome Mutations
Genome Mutations

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7
Q

affect single genes and are often, but not always, small changes in the DNA sequence.

A

Gene Mutations

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8
Q

affect the structures of entire chromosomes; the movement of large chromosomal regions either within the same chromosome or to another chromosome.

A

Chromosome Mutations

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9
Q

changes in the number of chromosomes

A

Genome Mutations

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10
Q

a cell or cell population with a normal complement of chromosomes.

A

Euploid

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11
Q

mostly observed as increased numbers of chromosomes or when there are more than two copies of one or more chromosomes.

A

Aneuploid

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12
Q

a phenomenon that a gene inserted or moved into a different chromosomal location may be expressed differently than it was in its original position

A

Position effect

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13
Q

a disease resulting from aneuploidy, where there are three copies or trisomy of chromosome 21

A

Down syndrome

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14
Q

eight histone proteins

A

two each of H2a, H2b, H3, and H4

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15
Q

Nucleosomes are visible by:

A

electron microscopy

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16
Q

is the state of compaction of the DNA double helix that affects gene activity.

A

Chromosome topology

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17
Q

is less available for RNA transcription.

A

Highly compacted DNA

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18
Q

closed chromatin, or ____

A

heterochromatin

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19
Q

open chromatin, or euchromatin____

A

euchromatin

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20
Q

is the site of attachment of the chromosome to the spindle apparatus.

A

centromere

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21
Q

CLASSIFICATION OF CHROMOSOMES

A

Metacentric
Submetacentric
Acrocentric & Telocentric

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22
Q

arms are approximately equal in length

A

Metacentric

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23
Q

one arm is longer than the other

A

Submetacentric

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24
Q

one arm is extremely small or missing

A

Acrocentric & Telocentric

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25
Q

are considered acrocentric but may be classified as subtelocentric.

A

Chromosomes 13 to 15, 21, and 22

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26
Q

cytological stains used to visualize chromosomes.

A

Feulgen, Wright, and hematoxylin

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27
Q

region specific staining of chromosomes by the use of silver nitrate to stain specifically the constricted regions, or stalks on the acrocentric chromosomes.

A

Nucleolar organizing region (NOR) staining

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28
Q

stains chromosomes to detect mycoplasmal contamination in cell cultures; binds to the surface grooves of dsDNA and fluoresces blue under ultraviolet (UV) light (353- nm wavelength); also used to visualize chromosomes as well as whole nuclei

A

4′,6-diamidino-2-phenylindole (DAPI)

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29
Q

give particularly intense staining of the human Y chromosome and are used to distinguish the Y chromosome in interphase nuclei.

A

Q bands

30
Q

stained by chemical dye (Giemsa) similar to those seen in Q banding; also produced by Feulgen staining after treatment with DNase I.

A

G banding

31
Q

pattern produced by harsher treatment of chromosomes (87°C for 10 min, then cooling to 70°C) before Giemsa staining which can also be visualized after staining with acridine orange.

A

R banding

32
Q

Alkali treatment of chromosomes results in centromere staining

A

C banding

33
Q

the “quiet” or poorly transcribed sequences along the chromosomes that are also present around centromeres.

A

heterochromatin

34
Q

which is relatively rich in gene activity, may not be stained as much as heterochromatin in C banding.

A

euchromatin

35
Q

Genetic Mapping: ‘CARBS’

A

Chromosome Number, Chromosome Arm, Region, Band, Sub-band

36
Q

complete set of chromosomes in a cell.

A

karyotype

37
Q

is the direct observation of metaphase chromosome structure by arranging metaphase chromosomes according to size.

A

Karyotyping

38
Q

translocation results in no gain nor loss of chromosomal material, therefore, without phenotypic effects.

A

Balanced translocations

39
Q

occur when chromosomes are not properly assorted during meiosis affecting the phenotype of offspring

A

Unbalanced translocations

40
Q

involves the movement of the long arm of an acrocentric chromosome to the centromere of another acrocentric chromosome. (e.g. t(9;22) translocation known as Philadelphia chromosome)

A

Robertsonian translocation

41
Q

translocation in Chronic Myelogenous Leukemia 2

A

t(8;21)

42
Q

translocation in Follicular Lymphoma

A

t(14;18)

43
Q

translocation in Acute Promyelocytic Leukemia.

A

t(15;17)

44
Q

is a gain of chromosomal material. The inserted sequences arise from duplication of particular regions within the affected chromosome or from fragments of other chromosomes

A

Insertion

45
Q

result from excision, flipping, and reconnecting chromosomal material within the same chromosome.

A

Inversions

46
Q

include the centromere in the inverted region,

A

Pericentric inversions

47
Q

involve sequences within one arm of the chromosome.

A

paracentric inversions

48
Q

is a metacentric chromosome that results from the transverse splitting of the centromere during cell division.

A

Isochromosome

49
Q

causes two long arms or two short arms to separate into daughter cells instead of normal chromosomes with one long arm and one short arm.

A

Transverse splitting

50
Q

results from the deletion of genetic regions from the ends of the chromosome and a joining of the ends to form a ring.

A

Ring chromosome

51
Q

consists of translocated or otherwise rearranged parts from two or more unidentified chromosomes joined to a normal chromosome.

A

Derivative chromosome

52
Q

normal karyotype is ____ in a female

A

46,XX

53
Q

normal karyotype is ____ in a male

A

46,XY

54
Q

karyotype showing 46,XX,del(7)(q13) denotes a ___ in the long arm (q) of chromosome 7 at region 1, band 3.

A

deletion

55
Q

karyotype showing 46,XY,t(5;17)(p13.3;p13) denotes a___ between the short arms p of chromosomes 5 and 17 and region 1, band 3, sub-band 3, and region 1, band 3, respectively.

A

translocation

56
Q

karyotype showing 47,XX + 21 is the karyotype of a female with ___ resulting from an extra chromosome

A

Down syndrome

57
Q

is caused by an extra X chromosome in males, for example, 47,XXY.

A

Klinefelter syndrome

58
Q

+

A

Gain

59
Q

-

A

Loss

60
Q

del

A

Deletion

61
Q

der

A

Derivative of Chromosomes

62
Q

dup

A

Duplication

63
Q

ins

A

Insertion

64
Q

inv

A

Inversion

65
Q

i,iso

A

isochromosome

66
Q

mat

A

Maternal Origin

67
Q

pat

A

Paternal Origin

68
Q

r

A

Ring Chromosome

69
Q

t

A

Translocation

70
Q

tel

A

Telomere (end of chromosome arm)

CYTOGENETICS MIDTERMS (3 decks)

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