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Molecular Diagnostics > Chromosome Structure and Mutations > Flashcards

Chromosome Structure and Mutations Flashcards

1
Q

a structure that carries the DNA that are supercoiled inside the nucleus

A

Chromosome

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2
Q

most abundant protein that winds the DNA

A

Histone

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3
Q

present when the cells are not dividing and is packaged into a “bead-on-a-string” arrangement

A

Chromatin

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4
Q

Number of chromosomes in a Human Diploid Organism

A

46 chromosomes

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5
Q

Chromosome 1-22 are called?

A

Autosomes

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6
Q

Sex Chromosomes?

A

Chromosome 23

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7
Q

Chromosomes are found in all nucleated cells?

True or False

A

True

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8
Q

Why is DNA compacted in the chromosome?

A

To Fit inside the nucleus and for segregation in mitosis

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9
Q

What stage where Chromosomes are only present?

A

Mitosis

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10
Q

The resting phase and the longest stage of cell cycle?

A

Interphase

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11
Q

Interphase stage which chromosomes are formed after DNA Replication

A

S Phase

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12
Q

Once chromosome is formed with two (sister) chromatids after DNA Replication
True or False

A

True

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13
Q

Presence of mutations will undergo Mitosis

True or false

A

False

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14
Q

Checkpoint Stage

A

Gap 2 (G2) Phase

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15
Q

Chromosomes line up at the center

A

Metaphase

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16
Q

Sister chromatids are pulled apart by the spindle fibers attaching to the Kinetochore

A

Anaphase

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17
Q

Forms the nuclear envelope from the new cells formed

A

Telophase

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18
Q

Long arm is designated as s

True or False

A

True

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19
Q

Chromosome structure that divides the chromosome into arms

A

Centromere

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20
Q

A component and it assembles the centromere sequences which spindle fibers also attach during Anaphase?

A

Kinetochore

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21
Q

Type of chromosome that is not present in Humans?

A

Telocentric

22
Q

Type of chromosome that divides into short and long arm?

A

Acrocentric

23
Q

Human chromosome are acrocentric or submetacentric. True or False?

24
Q

What are the types of chromosomes based on the centromere location?

A

Metacentric
Submetacentric
Acrocentric
Telocentric

25
Q

Any inheritable changes in the DNA sequence

26
Q

Mutations in the DNA itseld

A

Gene mutations

27
Q

Structural changes in the Chromosomes

A

Chromosomal mutations

28
Q

Increase in chromosomal numbers

A

Genomic mutations

29
Q

Reverse banding that is opposite to G or Q banding

30
Q

Stain used in R banding

A

Acridine orange

31
Q

Stained using Giemsa

32
Q

Centromere staining

33
Q

Stain used to visualize Q Band

A

Quinacrine or quinacrine mustard

34
Q

R banding darkly stains?

A

Euchromatin and non-centromeric regions

35
Q

It is the complete set of all chromosomes in a cell

36
Q

A mitogen that stimulate mitosis

A

Phytohemagglutinin

37
Q

What stage is arrested in Karyotyping using Colchicine/Colcemid?

38
Q

Chromosomal mutations

A

Translocation
Inversion
Deletion
Duplication

39
Q

A molecular technique used using stain and cultures the cell to visualize chromosomes?

A

Karyotyping

40
Q

Translocation always result to an effect (disease) or manifestation of the individual. True or False?

41
Q

Mutation which the gene is loss or deleted

42
Q

Deletion in the short arm of chromosome 5?

A

Cri du chat

43
Q

Deletion in the chromosome 15?

A

Prader Willi Syndrome

44
Q

A balanced translocation seen in chronic myelogenous leukemia?

A

Philadelphia Chromosome

45
Q

Affected chromosome of Philadelphia chromosome?

A

Chromosome 9 and 22

46
Q

Translocation of one entire chromosome to the centromere of another chromosome?

A

Robertsonian Translocation

47
Q

A mutation involving transfer of one segment of the chromosome to a homologous part or within the same chromosome?

A

Duplication

48
Q

Characterized by excision, flipping, or reconnecting of a segment of the chromosome in the same chromosome?

49
Q

Pericentric Inversion

A

Two arms are broken with centromere and flipped

50
Q

Paracentric Inversion

A

One arm is inverted of a chromosome

Molecular Diagnostics (1 decks)

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