CYTOGENTI CS

GROUP 6
43 SUPAN, Eden Jean G.
44 TAN, Chriesta Marielle B.
45 TAYAG, Patricia Isabel L.
46 TUASON, Arielle Katreena P.
47 VESTIL, Mark Aaron S.
CYTOGENETI CS
Study of chromosomes and related human
disease caused by abnormality in the
structure and number.

Also involves the concepts related to the
study of heredity, genetic phenomenon, sex
determination and disorders in relation to
human inheritance.
EUKARYOTIC CELL PROKARYOTIC CELLS
CELLS basic unit of building body.
TWO TYPES OF CELLS
Human gene segment of DNA that codes
for a polypeptide.
Chromatin composed mainly of coiled
strands of DNA and its associated histone
protein. They represent chromosomes is
different degrees of uncoiling.
Human DNA contains two copies of every
DNA sequence; organized into chromosomes
which serve to maneuver DNA through cell
division.
TYPES OF CHROMATI N
HETEROCHROMATIN
Transcriptionally inactive
Highly condensed
Located near
centromere and
telomere.
Make up 10% of the
chromatic present in an
interphase cell.
DNA replicated late in
the S Phase.
EUCHROMATIN
Transcriptionally active.
Less condensed, loosely
packed.
Located near the nuclear
pore complex.
Comprise 90% of chromatin
in an interphase cell.
DNA duplicated early in S
Phase.
Chromosome the 3D
structure w/in the cell
made up of continuous
molecule of DNA and
protein wrapped around it.
They determine the
existence and form of
organisms.
TELOMERE chromosome tips
containing many repeats of the
sequence TTAGGG.
CENTROMERE largest
constriction of a chromosome;
site where spindle fibres attach.
ORIGIN OF REPLICATION SITES
Where replication fork begin to
form
ESSENTIAL PARTS OF
CHROMOSOMES
METACENTRIC establishes equal size
p & q arm.
SUBMETACENTRIC centromere
creates a long q arm & short p arm.
ACROCENTRIC centromere near
an end of the centromere.
TELOCENTRIC has the centromere
at one end.
CLASSIFICATION OF
CHROMOSOMES
Allele two or more versions of an allele; Alternative form a gene.
Anticodon trinucleotide sequence complementary to that of a
corresponding codon in a messenger RNA
bears the head of tRNA. (ie.: GCA anticodon CGT)
Autosome regular chromosome. (chromosome 1-22)
Base pair two chemical bases bonded forming a rung of the DNA
ladder.
Carrier an individual who carries and is capable of passing a certain
trait/mutation associated w/ disease & may or may not display symptoms
of disease.
Codon trinucleotide sequence of DNA that corresponds to a specific
amino acid.
TERMINOLOGIES IN CYTOGENETICS
Deletion loss of genetic material.
DNA carrier of genetic information in all living structures.
Dominant relationship between two versions of gene: the one
that is expressed.
Double helix description of the structure of DNA molecule.
Duplication one or more copies of a particular gene.
Epigenome surrounds the DNA molecule; chemical factor that
can alter the behaviour of a genome.
Exon portion of the gene that codes for amino acids.
Gene expression way how a gene trait is being displayed.
TERMINOLOGIES IN CYTOGENETICS
Gene mapping process of establishing the gene on the chromosome.
Genotype two alleles inherited in a particular gene.
Gene pool total genetic diversity found within a population or species.
Heterozygous refers to having inherited different forms of a particular gene.
Homozygous genetic condition where an individual inherits the same alleles for a
particular gene from both parents.
Karyotype individuals collection of chromosome.
Linkage close association of genes or other DNA structures on the same
sequence.
Mutation change in DNA sequence w/c can result to DNA copying mistakes
made during cell division, exposure to radiation, chemicals called mutagens or
infection by viruses.
TERMINOLOGIES IN CYTOGENETICS
Pedigree genetic representation of a family tree diagrams, the inheritance of traits
or diseases.
Phenotype individuals observable traits.
Plasmid small, often circular DNA molecule found in bacteria or other cells.
Polygenic trait one whose phenotype is influenced by more than one gene.
Proteome proteins that are encoded and expressed by genome.
Pseudogene DNA sequence that resembles a gene but has been mutated into an
inactive form over the course of evolution.
Recessive a quality found in the relationship between two versions of a gene.
(unexpressed)
Stop codon trinucleotide sequence w/ mRNA molecule that signals a halt to
protein synthesis.
Transcription the process of making an RNA copy of gene sequence.
TERMINOLOGIES IN CYTOGENETICS
standard chart of chromosomes isolated from
a cell at the metaphase stage. It is arranged
according to size and structure.
KARYOTYPE
1. Peripheral blood smear (most convenient)
2. Bone marrow
3. Cultured skin fibroblasts
4. Amniotic fluids
5. Product of conception (Chrionic villi)
SPECIMENS IN KARYOTYPING
1. A sample of blood is drawn and placed in a
tube containing heparin as anticoagulant.
2. Through density gradient centrifugation
technique, mononuclear cells are isolated and
purified
PROTOCOLS FOR KARYOTYPING
3. Mononuclear cells are then cultured for 3-4
days in a medium containing phytohemagglutinin.
4. At the end of the culture period, the large
population of dividing cells is treated with a drug
e.g. Colcemid.
PROTOCOLS FOR KARYOTYPING
5. The lymphocytes are harvested and treated
briefly with a hypotonic solution
6. The swollen cells are fixed, dropped onto a
microscope slides, dried and stained to
induce a banding pattern .
PROTOCOLS FOR KARYOTYPING
7. Stained slides are scanned to identify good
chromosome spread and they are then
photographed.
8. Photos showing images of each chromosomes
are cut out and pasted to a backing sheet in
an orderly manner.
PROTOCOLS FOR KARYOTYPING
COMPILED KARYOTYPE
Q BANDING chromosomes are stained
with quinacrine.
G BANDING chromosomes are first
digested with trypsin then stained with
Giemsa.
BANDING TECHNIQUES
C BANDING chromosomes are treated
with acid & base solutions then stained with
Giemsa
R BANDING Uses olivomycin or acridine
orange
BANDING TECHNIQUES
simple cartoon of chromosomes,
used in genomics to demonstrate the
physical feature of a chromosome.
IDEOGRAM
GROUP A Chromosomes 1-3 , largest, metacentric
chromosomes
GROUP B Chromosomes 4-5, large with submedian
centromeres
GROUP C chromosomes 6-12, medium sized with sub-
median centromere
CLASSIFICATION OF CHROMOSOMES
FOR KARYOTYPING
GROUP D Chromosomes 13-15, medium sized with
acrocentric centromere
GROUP E Chromosomes 16-18, short with median or
submedian centromere
GROUP F chromosomes 19-20, short with median
centromere
CLASSIFICATION OF CHROMOSOMES
FOR KARYOTYPING
GROUP G- chromosomes 21-22, very short with
acrocentric centromere.
CHROMOSOME X similar to Group C
CHROMOSOME Y similar to Group G
CLASSIFICATION OF CHROMOSOMES
FOR KARYOTYPING
CHROMOSOMAL
ABNORMALITIES
FACTORS CONTRIBUTING TO THE
DEVELOPMENT OF ABNORMALITIES
Ionizing radiation
Autoimmunity
Human Leukocyte Locus A genes
part of Major Histocompatibility
genes
Viral infection
Teratogenic can cause mutation
TORCH group of serological tests to identify antigens and
antibodies that could cause mutation/malformation
TO Toxoplasmosis parasitic from cats
R Rubella German measles
C Cytomegalovirus infectious mononucleosis (Downey
cells abnormal lymphocytes)
H - Herpes
FACTORS CONTRIBUTING TO THE
DEVELOPMENT OF ABNORMALITIES
Chemical toxins
Industrial pollutants, fumes from
cigarette, smoke, certain drugs (e.g.
cocaine)
FACTORS CONTRIBUTING TO THE
DEVELOPMENT OF ABNORMALITIES
CLINICAL PRESENTATIONS
Infertility and Sterility
Determined at puberty
Intersexes
Hermaphrodites and Pseudohermaphrodites
Multiple Congenital Malformation
Easily detected
Physical aspect
Mental Retardation
PLOIDY
Basic chromosome set or the exact multiples
of that set represented by n
n = 23
Humans diploidy 2n = 46
Triploidy = 69
EUPLOID
A somatic cell with the normal
number of chromosomes for that
species
POLYPLOID
A cell with one or more extra sets of
chromosomes
BASIC TYPES OF CHROMOSOMAL
ABNORMALITY
Numerical
Deviation in the normal number
Structural
Something to do with the
chromosome itself
Deletion
NUMERICAL CHROMOSOMAL
ABERRATION
ANEUPLOIDY
General term referring to the
deviation from the euploid number of
chromosomes
Loss or gain of one or more
chromosomes but not the entire
whole set
MONOSOMY
Loss or lack of one of a pair of
chromosomes
Ex: Loss of one in the X chromosomes
TURNERS SYNDROME (45,XO)
PARTIAL MONOSOMY
When only a part of one
chromosome is lost
Ex: Loss of of the p (short) arm
of chromosome as in chromosome
# 5
CRI DU CHAT SYNDROME (46, 5P-)
Cat-cry
Low birth weight
Hypotonia
Feeding difficulties
Microcephaly
Micrognathia
Low set ears
Profound learning
disability
TRISOMY
Gain of one chromosome to an
otherwise diploid genome
TRISOMY 13 (PATAU SYNDROME)
(47,XY) (47,XX)
Small head
No eyebrows
Cleft palate
Sexual
malformation
Learning disability
Malformed ears
Clenched hands
Polydactyly
TRISOMY 18 (EDWARDS SYNDROME)
(47,XY) (47,XX)
Occiput, or back part
of the skull is prominent
Malformed ears
Clenched hands w/
overlapping fingers
Small mouth, small jaw,
& short neck
Shield chest
Flexed big toe
TRISOMY 21 (DOWNS SYNDROME)
Mental Impairement
Stunted growth
Flattened nose and
face, upward slanting
eyes
Low muscle tone
Separation of 1
st
and
2
nd
toes
Single palmer crease
TRISOMY 21 (DOWNS SYNDROME)
(47,XX, +21) (47,XY,=21)
TRIPLE X SYNDROME (47,XXX)
Normal feature of a
female but w/
underdeveloped
secondary sexual
characteristics
Normal fertility
Likely to struggle
personal and
psychological problems
KLINEFELTERS SYNDROME
Occurs in
males
(47, XXY)
Suffer from
personality
disorder,
behavior, &
subnormal
intelligence
KLINEFELTERS SYNDROME
(47, XXY)
TRIPLOIDY
An individual w/c
has three of every
chromosomes, that
is, three haploid set
of chromosomes
Fetuses w/ this are
lost through early
miscarriage
Live only to survive
for about less than a
year
JACOBS SYNDROME
(47,XYY)
Occurs in 1in 1,000
newborn boys

May have lingual,
emotional, social,
and psychomotor
problems
STRUCTURAL CHROMOSOMAL
ABERRATION
1.DELETION- when one or more breaks in
the chromosomes occur & broken piece is lost
2.DUPLICATION- when any part of the
genetic material e.g. Locus or a piece of
chromosomes is present more than once in the
genome
3. INVERSION segment of a chromosome is
turned around 180 within a chromosomes. There is no
loss of genetic information but reaarangement of the
linear gene sequence.
4. TRANSLOCATION- movement of a segment
of chromosomes to a new place in the genome.
Reciprocal Translocation - exchange of segments
between two non homologous chromosomes.