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2nd sem-Cytogenetics PRELIM > Cytogenetic Analysis (CHROMOSOME) > Flashcards

Cytogenetic Analysis (CHROMOSOME) Flashcards

1
Q

humans inherit a ____ of genes (23 chromosomes) from each parent, X and y are exceptions.

A

haploid set

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2
Q

carried on the chromosomes in the form of the order or sequence of nucleotide bases in the DNA helix.

A

genetic information

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3
Q

the total genes found in a single individual.

A

human genome

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4
Q

The human genome consists of 2.9 billion nucleotide base pairs of DNA organized into ____

A

23 chromosomes.

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5
Q

Physically organized form of DNA in the nucleus of a cell.

A

CHROMOSOMES

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6
Q

Consist of DNA, histones, non-histone protein, RNA & polysaccharides.

A

CHROMOSOMES

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7
Q

It is very long continuous thread of DNA which contains many genes

A

CHROMOSOMES

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8
Q

From the Greek word “chroma” means color and “soma” means body due to its capacity to stain dyes.

A

CHROMOSOMES

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9
Q

“chroma” means

A

color

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10
Q

“soma” means

A

body

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11
Q

DNA wrapped in a histones

A

Chromatin

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12
Q

loosely wrapped DNA in a histones, less condensed and stained lighter.

A

Euchromatin

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13
Q

thread-like structure in the nucleus that carry genes.

A

chromosome

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13
Q

tightly coiled DNA in a histones, more condensed and stained darker.

A

heterochromatin

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14
Q

replicated copy of chromatin

A

chromatids

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15
Q

2 chromatids attached together by 1 centromere

A

sister chromatids

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16
Q

a protein where DNA is tightly bind. Helps DNA to condensed into chromosomes. (H1, H2A, H2B, H3, and H4 ).

A

Histones

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17
Q

Postively charged due to arginine and lysine.

A

Histones

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18
Q

consist of 8 units of histones. A repeating structural and functional unit of chromatin.

A

Nucleosome

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19
Q

help in tightly packing of DNA , it controls gene expression as well.

A

Histones

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20
Q

genes are easily expressed

A

Euchromatin

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21
Q

genes are not expressed

A

heterochromatin

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22
Q

chromosomes that are similar in terms of size and genetic material. From paternal and maternal chromosomes

A

Homologous

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22
Q

2 identical copies of the chromosomes.

A

Sister chromatids-

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23
Q

they are separated to become a full chromosome during?

A

mitosis

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24
Q

Basic parts of a chromosome

A

Centromere
Telomere
Long arm
Short arm

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25
Q

the central region of the chromosome.

A

Centromeres

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26
Q

the point of attachment of 2 sister chromatids and pulls it apart during mitosis.

A

Centromeres

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27
Q

the tips of chromosomes.

A

Telomere

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28
Q

protects the ends of chromosomes from damage and prevents the attachment of 2 sister chromatids.

A

Telomere

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28
Q

shorten as we age.

A

Telomere

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29
Q

the long arm of a chromosome.

A

q arm

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29
Q

short arm of the chromosome.

A

p arm-

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30
Q

are used in genetic mapping (finding the location of gene in a chromosome).

A

p and q arm

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31
Q

22 pairs (44)
Identical in both sexes.

A

AUTOSOMES

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32
Q

Contain the related information about phenotypic characteristics of a human.

A

AUTOSOMES

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33
Q

1 pair (X and Y)

X chromosome is larger then Y.

A

HETEROSOMES/ALLOSOMES

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34
Q

Types of chromosomes Based on centromere location

A

Metacentric
Submetacentric
Acrocentric
Telocentric

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34
Q

Helps in the determination of sex of the progeny.

A

HETEROSOMES/ALLOSOMES

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35
Q

centromere is at the center nearly equal in length arm.

A

Metacentric

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36
Q

Metacentric Chromosome affects what number?

A

1
3
16
19-20

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37
Q

centromere is little away from the center. Chromatids on 1 side is longer than the other

A

Submetacentric

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38
Q

Submetacentric Chromosome affects what number?

A

2
4, 5, 6, 7, 8, 9, 10, 11-12
17-18
X

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39
Q

centromere located closer at end of the chromatid. A small round structure attach to the end of shorter arm (satellite).

A

Acrocentric

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40
Q

Acrocentric Chromosome affects what number?

A

13, 14, 15
21-22
Y

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40
Q

centromere is located at end of chromatid producing only 1 arm.

A

Telocentric

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41
Q

Carry the genetic information for the development of sexual characteristics

A

Sex chromosomes

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41
Q

This allow the determination of male or female.

A

Sex chromosomes

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42
Q

Not present in human.

A

Telocentric

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43
Q

Sex is determined __ weeks after the fertilization.

A

10

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44
Q

Sex determining region on y chromosome

A

SRY gene

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44
Q

found only in the y chromosome

A

SRY gene

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45
Q

responsible for the development of male sexual characteristics.

A

SRY protein

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46
Q

It codes for the production of SRY protein responsible for the development of male sexual characteristics.

A

SRY gene

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47
Q

If the zygote inherit SRY gene it will become _____.

A

male

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48
Q

If the zygote does not inherit SRY gene it will become_____.

A

female

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49
Q

22 autosomes and X chromosome

A

Unfertilized egg (n)

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50
Q

22 autosomes and X chromosome
22 autosomes and y chromosome

A

Sperm cells (n)

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51
Q

Chromosomal abnormalities (Numerical abnormalities) Aneuploidy

A

Monosomy
Trisomy
Tetrasomy

51
Q

Chromosomal abnormalities (Numerical abnormalities) Polyploidy

A

Triploidy
Tetraploidy

52
Q

Chromosomal abnormalities (Structural abnormalities)

A

Translocation
Inversion
Duplication
Deletion
Ring chromosome

53
Q

complete set of chromosomes (46)

A

Euploidy

54
Q

extra or missing chromosome (> or < 46)

A

Aneuploidy

55
Q

Absence of 1 pair of chromosome.
Addected: sex chromosome

A

Monosomy

56
Q

(45 X)
Structural abnormalities
Infertility.

A

Turner syndrome

57
Q

extra chromosome in a pair.
Affected: sex chromosome

A

Trisomy

58
Q

(47XXY)
Breast enlargement
Less facial and body hair
Infertility

A

Klinefelter syndrome

59
Q

extra chromosome in a pair.
Affected: autosomes

A

Trisomy

60
Q

(trisomy 21)
Facial features
Learning problems
Birth defect

A

Down syndrome

61
Q

(trisomy 18)
Microcephaly
Cleft palate
Neural tube defect
Low chance of survival

A

Edward syndrome

62
Q

(trisomy 13)
Microcephaly
Polydactyly
Cleft palate
Heart defects

A

Patau syndrome

63
Q

(48 XXXX)
Affects only female
Distinct facial features
Heart defects
Impaired learning ability

A

Tetrasomy X

64
Q

more than 2 paired of chromosomes
Affected: all chromosomes

A

Polyploidy

65
Q

(3n)
Total chromosome: 69
Miscarriage or less than 1 year of survival

A

Triploid syndrome

66
Q

Total chromosome: 92
Miscarriage or death after birth

A

Tetra ploidy (4n)

67
Q

Chromosomal aberration (altered structure) Types

A

Deletions
Duplications
Translocation
Inversion
Rings

68
Q

missing or deleted portion of chromosome resulting to lost of genetic materials.

A

Deletions

69
Q

Deletion of chromosome 5p

A

Cri du Chat (Cat cry syndrome)

70
Q

a portion of a chromosome is transferred to another (non- homologous).

A

Translocation

71
Q

a segment of chromosome is duplicated resulting to an extra genetic material this result improper functioning of the genes.

A

Duplications

72
Q

Duplication of genetic material in chromosome 12 p arm.

A

Pallister Killian syndrome

73
Q

Exchange of some parts between chromosome 8 and chromosome 21.

A

Acute myeloid leukemia (AML)

74
Q

Types of translocation

A

Reciprocal
Robertsonian

75
Q

non homologous chromosome exchange genetic material with each other.

A

Reciprocal

76
Q

2 acrocentric chromosome joined together losing the p arms of both. Asymptomatic but can be passed to offspring leading to genetic disorders.

A

Robertsonian

77
Q

apportion of chromosome is broken off, turn upside down, and reattached. Resulting to inverted genetic material.

A

Inversion

78
Q

Types of Inversion

A

Paracentric
Pericentric

79
Q

centromere is not involved, occur in one arm only

A

Paracentric

80
Q

centromere in involved, occur in both arms.

A

Pericentric

81
Q

inv (9).
Infertility

A

Pericentric inversion of chromosome 9

82
Q

break in both ends of a chromosome resulting to fused together forming a ring.

A

Rings

83
Q

Mental disability
Epilepsy
Short stature

A

Ring chromosome 14 syndrome

84
Q

the complete set of chromosomes in a cell (somatic cell)

A

Karyotype

85
Q

Normal karyotype in male and female

A

46 XY- male
46 XX – female

86
Q

Karyo typing is also known as

A

nucleus typing

87
Q

A cytogenetic technique for direct observation of chromosomes.

A

Karyotyping (nucleus typing)

88
Q

To diagnose aneuploidy and chromosomal aberrations.

A

Karyotyping (nucleus typing)

89
Q

For therapeutic monitoring of genetic diseases.

A

Karyotyping (nucleus typing)

90
Q

Identification of possible carrier in the family

A

Karyotyping (nucleus typing)

91
Q

Karyotyping specimens

A

Blood
Bone marrow
Amniotic fluid
Placental tissue

91
Q

Determination of chromosomal abnormalities after exposure to environmental hazards.

A

Karyotyping (nucleus typing)

92
Q

Individual chromosome is photograph, cut images then organized according to size.

A

Karyotyping

92
Q

Arrangement of chromosomes

A

Karyotyping (nucleus typing)

93
Q

Other technique used computer software that arrange chromosomes according to sizes and displayed in a monitor.

A

Karyotyping

94
Q

Application of stain to chromosomes for direct observation.

A

Chromosome banding

95
Q

A light and dark color (banding pattern) is observed along the chromosome after staining.

A

Chromosome banding

96
Q

____ allows chromosome identification.

A

Staining

97
Q

Types of chromosome banding

A

G-banding
R-banding
Q-banding
C-banding
NOR banding

98
Q

The most common banding method in cytogenetics.

A

G-banding

99
Q

Chromosome is treated with trypsin for digest proteins then stain with giemsa

A

G-banding

99
Q

Produces an alternating banding pattern of Dark region and Light region

A

G-banding

100
Q

Guanine-Cytosine rich bases

A

Dark Region

101
Q

Adenine-Thymine rich bases

A

Light Region

102
Q

Represents euchromatin.
DNA is loosely wrapped into nucleosomes.
Genes can be expressed.

A

G-C rich bases (Dark band)

103
Q

Represents heterochromatin.
DNA is tightly wrapped into nucleosomes .
Genes can not be expressed.

A

A-T rich bases (light band)

104
Q

Chromosome is heat denatured (87°C for 10 min, then cooling to 70°C).then stain with giemsa.

A

R-banding

105
Q

Banding pattern
Dark region (A-T)

A

R-banding

106
Q

Banding pattern
Light region (G-C)

A

R-banding

107
Q

Observe under light microscope.
It is used to analyzed the telomeres since it stained light in G-banding

A

R-banding

108
Q

Chromosome is denatured with alkali solution (barium hydroxide), then stain with giemsa.

A

C-banding

109
Q

Stained with quinacrine mustard dye

A

Q- banding

110
Q

Observe under light microscope.
Used to analyzed heterochromatin or centromere.

A

C-banding

111
Q

Creates fluorescent when exposed to UV light.

A

Q- banding

112
Q

Banding patter is similar with G-banding

A

Q- banding

113
Q

Observed under fluorescent microscope.
Gives a high resolution of banding.

A

Q- banding

114
Q

Not widely used due to expensive equipment.

A

Q- banding

115
Q

NOR staining stands for

A

nucleolar organizing region

116
Q

Stains the terminal region of acrocentric chromosomes responsible for the formation of nucleolus.

A

NOR staining

117
Q

are code for the production of rRNA

A

NOR staining

118
Q

Chromosomes are stained with silver nitrate stain

A

NOR staining

119
Q

Gene address
Describe the location of specific genes along the chromosome.

A

Cytogenetic mapping

120
Q

Identifies the specific location (locus) of gene in a chromosome.

A

Cytogenetic mapping

121
Q

It is a combination of numbers and letters.

A

Cytogenetic mapping

122
Q

G-banding pattern is used.

A

Cytogenetic mapping

123
Q

Location of gene based on the

A

G- banding pattern.

123
Q

occupies a specific position on a chromosomes.

A

a gene (DNA sequence)

124
Q

indicates the chromosome number
autosomes (1-22)
sex chromosomes ( X &Y)

A

1st number

125
Q

indicates short arm (p) or long arm (q).

A

Letter

126
Q

indicates the region

A

2nd number

127
Q

indicates band region

A

3rd number

128
Q

decimal point indicates the sub region

A

4th number

129
Q

located on the long arm of chromosome 1, region 2 band 3 sub-band 2.

A

Gene blue

130
Q

long arm of chromosome 7 at region 1,band 3.

A

male with a deletion

131
Q

long arm of chromosome 9

A

female with a deletion

132
Q

between the short arms of chromosomes 5 and 17 and region 1, band 3, sub-band 3, and region 1, band 3, respectively.

A

male with translocation

2nd sem-Cytogenetics PRELIM (3 decks)

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