Cytogenetic Analysis (CHROMOSOME) Flashcards
1
Q
humans inherit a ____ of genes (23 chromosomes) from each parent, X and y are exceptions.
A
haploid set
2
Q
carried on the chromosomes in the form of the order or sequence of nucleotide bases in the DNA helix.
A
genetic information
3
Q
the total genes found in a single individual.
A
human genome
4
Q
The human genome consists of 2.9 billion nucleotide base pairs of DNA organized into ____
A
23 chromosomes.
5
Q
Physically organized form of DNA in the nucleus of a cell.
A
CHROMOSOMES
6
Q
Consist of DNA, histones, non-histone protein, RNA & polysaccharides.
A
CHROMOSOMES
7
Q
It is very long continuous thread of DNA which contains many genes
A
CHROMOSOMES
8
Q
From the Greek word “chroma” means color and “soma” means body due to its capacity to stain dyes.
A
CHROMOSOMES
9
Q
“chroma” means
A
color
10
Q
“soma” means
A
body
11
Q
DNA wrapped in a histones
A
Chromatin
12
Q
loosely wrapped DNA in a histones, less condensed and stained lighter.
A
Euchromatin
13
Q
thread-like structure in the nucleus that carry genes.
A
chromosome
13
Q
tightly coiled DNA in a histones, more condensed and stained darker.
A
heterochromatin
14
Q
replicated copy of chromatin
A
chromatids
15
Q
2 chromatids attached together by 1 centromere
A
sister chromatids
16
Q
a protein where DNA is tightly bind. Helps DNA to condensed into chromosomes. (H1, H2A, H2B, H3, and H4 ).
A
Histones
17
Q
Postively charged due to arginine and lysine.
A
Histones
18
Q
consist of 8 units of histones. A repeating structural and functional unit of chromatin.
A
Nucleosome
19
Q
help in tightly packing of DNA , it controls gene expression as well.
A
Histones
20
Q
genes are easily expressed
A
Euchromatin
21
Q
genes are not expressed
A
heterochromatin
22
Q
chromosomes that are similar in terms of size and genetic material. From paternal and maternal chromosomes
A
Homologous
22
Q
2 identical copies of the chromosomes.
A
Sister chromatids-
23
they are separated to become a full chromosome during?
mitosis
24
Basic parts of a chromosome
Centromere
Telomere
Long arm
Short arm
25
the central region of the chromosome.
Centromeres
26
the point of attachment of 2 sister chromatids and pulls it apart during mitosis.
Centromeres
27
the tips of chromosomes.
Telomere
28
protects the ends of chromosomes from damage and prevents the attachment of 2 sister chromatids.
Telomere
28
shorten as we age.
Telomere
29
the long arm of a chromosome.
q arm
29
short arm of the chromosome.
p arm-
30
are used in genetic mapping (finding the location of gene in a chromosome).
p and q arm
31
22 pairs (44)
Identical in both sexes.
AUTOSOMES
32
Contain the related information about phenotypic characteristics of a human.
AUTOSOMES
33
1 pair (X and Y)
X chromosome is larger then Y.
HETEROSOMES/ALLOSOMES
34
Types of chromosomes Based on centromere location
Metacentric
Submetacentric
Acrocentric
Telocentric
34
Helps in the determination of sex of the progeny.
HETEROSOMES/ALLOSOMES
35
centromere is at the center nearly equal in length arm.
Metacentric
36
Metacentric Chromosome affects what number?
1
3
16
19-20
37
centromere is little away from the center. Chromatids on 1 side is longer than the other
Submetacentric
38
Submetacentric Chromosome affects what number?
2
4, 5, 6, 7, 8, 9, 10, 11-12
17-18
X
39
centromere located closer at end of the chromatid. A small round structure attach to the end of shorter arm (satellite).
Acrocentric
40
Acrocentric Chromosome affects what number?
13, 14, 15
21-22
Y
40
centromere is located at end of chromatid producing only 1 arm.
Telocentric
41
Carry the genetic information for the development of sexual characteristics
Sex chromosomes
41
This allow the determination of male or female.
Sex chromosomes
42
Not present in human.
Telocentric
43
Sex is determined __ weeks after the fertilization.
10
44
Sex determining region on y chromosome
SRY gene
44
found only in the y chromosome
SRY gene
45
responsible for the development of male sexual characteristics.
SRY protein
46
It codes for the production of SRY protein responsible for the development of male sexual characteristics.
SRY gene
47
If the zygote inherit SRY gene it will become _____.
male
48
If the zygote does not inherit SRY gene it will become_____.
female
49
22 autosomes and X chromosome
Unfertilized egg (n)
50
22 autosomes and X chromosome
22 autosomes and y chromosome
Sperm cells (n)
51
Chromosomal abnormalities (Numerical abnormalities) Aneuploidy
Monosomy
Trisomy
Tetrasomy
51
Chromosomal abnormalities (Numerical abnormalities) Polyploidy
Triploidy
Tetraploidy
52
Chromosomal abnormalities (Structural abnormalities)
Translocation
Inversion
Duplication
Deletion
Ring chromosome
53
complete set of chromosomes (46)
Euploidy
54
extra or missing chromosome (> or < 46)
Aneuploidy
55
Absence of 1 pair of chromosome.
Addected: sex chromosome
Monosomy
56
(45 X)
Structural abnormalities
Infertility.
Turner syndrome
57
extra chromosome in a pair.
Affected: sex chromosome
Trisomy
58
(47XXY)
Breast enlargement
Less facial and body hair
Infertility
Klinefelter syndrome
59
extra chromosome in a pair.
Affected: autosomes
Trisomy
60
(trisomy 21)
Facial features
Learning problems
Birth defect
Down syndrome
61
(trisomy 18)
Microcephaly
Cleft palate
Neural tube defect
Low chance of survival
Edward syndrome
62
(trisomy 13)
Microcephaly
Polydactyly
Cleft palate
Heart defects
Patau syndrome
63
(48 XXXX)
Affects only female
Distinct facial features
Heart defects
Impaired learning ability
Tetrasomy X
64
more than 2 paired of chromosomes
Affected: all chromosomes
Polyploidy
65
(3n)
Total chromosome: 69
Miscarriage or less than 1 year of survival
Triploid syndrome
66
Total chromosome: 92
Miscarriage or death after birth
Tetra ploidy (4n)
67
Chromosomal aberration (altered structure) Types
Deletions
Duplications
Translocation
Inversion
Rings
68
missing or deleted portion of chromosome resulting to lost of genetic materials.
Deletions
69
Deletion of chromosome 5p
Cri du Chat (Cat cry syndrome)
70
a portion of a chromosome is transferred to another (non- homologous).
Translocation
71
a segment of chromosome is duplicated resulting to an extra genetic material this result improper functioning of the genes.
Duplications
72
Duplication of genetic material in chromosome 12 p arm.
Pallister Killian syndrome
73
Exchange of some parts between chromosome 8 and chromosome 21.
Acute myeloid leukemia (AML)
74
Types of translocation
Reciprocal
Robertsonian
75
non homologous chromosome exchange genetic material with each other.
Reciprocal
76
2 acrocentric chromosome joined together losing the p arms of both. Asymptomatic but can be passed to offspring leading to genetic disorders.
Robertsonian
77
apportion of chromosome is broken off, turn upside down, and reattached. Resulting to inverted genetic material.
Inversion
78
Types of Inversion
Paracentric
Pericentric
79
centromere is not involved, occur in one arm only
Paracentric
80
centromere in involved, occur in both arms.
Pericentric
81
inv (9).
Infertility
Pericentric inversion of chromosome 9
82
break in both ends of a chromosome resulting to fused together forming a ring.
Rings
83
Mental disability
Epilepsy
Short stature
Ring chromosome 14 syndrome
84
the complete set of chromosomes in a cell (somatic cell)
Karyotype
85
Normal karyotype in male and female
46 XY- male
46 XX – female
86
Karyo typing is also known as
nucleus typing
87
A cytogenetic technique for direct observation of chromosomes.
Karyotyping (nucleus typing)
88
To diagnose aneuploidy and chromosomal aberrations.
Karyotyping (nucleus typing)
89
For therapeutic monitoring of genetic diseases.
Karyotyping (nucleus typing)
90
Identification of possible carrier in the family
Karyotyping (nucleus typing)
91
Karyotyping specimens
Blood
Bone marrow
Amniotic fluid
Placental tissue
91
Determination of chromosomal abnormalities after exposure to environmental hazards.
Karyotyping (nucleus typing)
92
Individual chromosome is photograph, cut images then organized according to size.
Karyotyping
92
Arrangement of chromosomes
Karyotyping (nucleus typing)
93
Other technique used computer software that arrange chromosomes according to sizes and displayed in a monitor.
Karyotyping
94
Application of stain to chromosomes for direct observation.
Chromosome banding
95
A light and dark color (banding pattern) is observed along the chromosome after staining.
Chromosome banding
96
____ allows chromosome identification.
Staining
97
Types of chromosome banding
G-banding
R-banding
Q-banding
C-banding
NOR banding
98
The most common banding method in cytogenetics.
G-banding
99
Chromosome is treated with trypsin for digest proteins then stain with giemsa
G-banding
99
Produces an alternating banding pattern of Dark region and Light region
G-banding
100
Guanine-Cytosine rich bases
Dark Region
101
Adenine-Thymine rich bases
Light Region
102
Represents euchromatin.
DNA is loosely wrapped into nucleosomes.
Genes can be expressed.
G-C rich bases (Dark band)
103
Represents heterochromatin.
DNA is tightly wrapped into nucleosomes .
Genes can not be expressed.
A-T rich bases (light band)
104
Chromosome is heat denatured (87°C for 10 min, then cooling to 70°C).then stain with giemsa.
R-banding
105
Banding pattern
Dark region (A-T)
R-banding
106
Banding pattern
Light region (G-C)
R-banding
107
Observe under light microscope.
It is used to analyzed the telomeres since it stained light in G-banding
R-banding
108
Chromosome is denatured with alkali solution (barium hydroxide), then stain with giemsa.
C-banding
109
Stained with quinacrine mustard dye
Q- banding
110
Observe under light microscope.
Used to analyzed heterochromatin or centromere.
C-banding
111
Creates fluorescent when exposed to UV light.
Q- banding
112
Banding patter is similar with G-banding
Q- banding
113
Observed under fluorescent microscope.
Gives a high resolution of banding.
Q- banding
114
Not widely used due to expensive equipment.
Q- banding
115
NOR staining stands for
nucleolar organizing region
116
Stains the terminal region of acrocentric chromosomes responsible for the formation of nucleolus.
NOR staining
117
are code for the production of rRNA
NOR staining
118
Chromosomes are stained with silver nitrate stain
NOR staining
119
Gene address
Describe the location of specific genes along the chromosome.
Cytogenetic mapping
120
Identifies the specific location (locus) of gene in a chromosome.
Cytogenetic mapping
121
It is a combination of numbers and letters.
Cytogenetic mapping
122
G-banding pattern is used.
Cytogenetic mapping
123
Location of gene based on the
G- banding pattern.
123
occupies a specific position on a chromosomes.
a gene (DNA sequence)
124
indicates the chromosome number
autosomes (1-22)
sex chromosomes ( X &Y)
1st number
125
indicates short arm (p) or long arm (q).
Letter
126
indicates the region
2nd number
127
indicates band region
3rd number
128
decimal point indicates the sub region
4th number
129
located on the long arm of chromosome 1, region 2 band 3 sub-band 2.
Gene blue
130
long arm of chromosome 7 at region 1,band 3.
male with a deletion
131
long arm of chromosome 9
female with a deletion
132
between the short arms of chromosomes 5 and 17 and region 1, band 3, sub-band 3, and region 1, band 3, respectively.
male with translocation
