FINALS Flashcards
Genetic structures of cells containing DNA
chromosomes
Each chromosomes has a characteristic length and
banding pattern
CHROMOSOMES
Each autosome is numbered from ______ sex
chromosomes either _______
1-22
X or Y
_________ is the constricted portion of the
chromosomes.
● Centromere
___________This is important for mitosis (cell
division) because it contains the microtubules for
mitosis which attaches the kinetochore
centromere
Autosome
1-22
Sex Chromosome
X or Y
sample taken from the
fluid of the amniotic sac
Amniocentesis
sample
taken from the fetal tissue that forms part
of the placenta
Chorionic Villus Sampling
__________are stained for easy visualization
Chromosomes
____________ used to view chromosomes in
metaphase of mitosis
Light microscope
Chromosomes arranged into homologous pairs
based on:
SBL
Size/Length
Banding method
Location of the centromere
____________ can be visually identified on
chromosomes after staining
Banding patterns
homogeneous staining by
Giemsa
Classic method
Classic method are use for __________
For mutagenic study
differentiation of individual
chromosomes and their parts
Banding method
For detection of numerical and structural
chromosome abnormalities in clinical
cytogenetics
Banding Methods
Trypsin or saline solutions — Different
denaturation of chromosomal parts =
Different staining by Giemsa (dark and
pale bands)
G bands
________ will denature protein. The denature
protein will live behind the__________ and the we stain that by _________
trypsin - resistant chromosome - Giemsa
Reverse banding (reverse to G bands)
○ Saline solutions at high temperature
○ The dark is due to the G-C rich
components of the chromosomes
○ The pale is due to the A-T rich compound
of the chromosome
R-bands
________show the chromosomal makeup of an
individual. Knowing the number of chromosomes is
essential for identifying chromosomal variations
that cause genetic disorders.
karyotypes
________show the chromosomal makeup of an
individual. Knowing the number of chromosomes is
essential for identifying chromosomal variations
that cause genetic disorders.
karyotypes
E. INFORMATION OBTAINED FROM A KARYOTYPE
(4)
- Number of chromosomes
- Sex chromosome content
- Presence or absence of individual
chromosomes - Nature and extent of large structural
abnormalities
F. IMPORTANCE OF
A technique that hybridizes a DNA nucleic acid
probe to a target DNA sequence contained within
a cell nucleus
FISH TECHNIQUE
(FISH) to rule out:
Chromosome Microdeletion Detection
● Interphase Chromosome Enumeration
● Gene Rearrangements (ie, bcr/abl, PML/RARA)
● Cryptic Chromosomal Rearrangements
● Marker Chromosome Identification
● Chromosome Breakpoint Mapping
Have specificity for a single human chromosome
arm. They contain a locus estimated to be within
300 kb of the end of the chromosome
Telomeric Probes
The hybridized probe fluoresces with brightly
intensity along the length of chromosome
WCP Chromosome Painting Probes
Most are Alpha and Satellite III Probes
● Centromere regions stained brighter
○ Means that they are rich in A-T bonds
Chromosome Enumerator Probes (CEP)
Deletion Probes
● Translocation Probes
● Gene Detection & Localization
● Gene Amplification Probes
Locus Specific Identifiers (LSI)
_________ is the formation of a
duplex between two complementary sequences
Nucleic acid hybridization
____________is another term used to describe the
hybridization of two complementary molecules
Annealing
The probe and target DNA are denatured together
● Faster, easier, and safer hybridization
HYBRITE
_________ is labeled with a colored fluorescent
molecule
DNA probe
This fluorescent molecule remains attached to the
DNA during the hybridization process
DNA probe
The molecule emits a particular color when viewed
through a fluorescence microscope that is equipped
with the appropriate filter sets
DNA probe
● Results are released in less than 24 hours
FISH
Results are released in 7-10 days;because of the
cultivation of cells
Karyotyping
Is a means to amplify a particular piece of DNA
Polymerase chain reaction
__________ to make numerous copies of a
segment of DNA
Amplify
__________ can make billions of copies of a target
sequence of DNA in a few hours
Polymerase Chain Reaction
__________ was invented in the 1984 as a way to make
numerous copies of DNA fragments in the
laboratory
Polymerase Chain Reaction
Its application are vast and _______ is now an integral
part of Molecular Biology
Polymerase Chain reaction
_________ is a laboratory version of DNA replication in
cells
PCR
The copying of DNA
DNA REPLICATION
_________ is semi-conservative (i.e. one
strand of the DNA is used as the template for the
growth of a new DNA strand)
DNA REPLICATION
This process occurs with very few errors (on
average there is one error per 1 billion nucleotide
copied)
DNA REPLICATION
More than a dozen enzymes and proteins
participate in DNA replication
DNA REPLICATION
In humans, __________ is the enzyme that can start
and RNA chain from scratch and it creates a
__________
primase - primer
