CYTOGENETICS | PenullarChristelAnnR.

2020

Cytogenetics
- Study of chromosomes
- Allow us to understand underlying mechanisms of
disease that are not brought about by typical materials
such as communicable diseases (brought about by
bacteria, viruses, etc).
- To understand abnormalities in genetic make up
- Clinical approach
 Cytogenetics of abnormalities, diseases
 Clinical manifestations
 Cluster of feature of syndromes/cancers
Cyto= chromosome
Genetic= 1. how information is stored in chromosomes
2. transfer of genetic information  Phosphate Group(C5’)
 Hydroxyl Group (C3’)
MAJOR BIOMOLECULES - Point of attachment of phosphate group of
Nucleic Acid incoming nucleotide
- Crucial building block of chromosomes  Phosphodiester bond
Nucleoside - Crucial in the production of primary structure of
- Nitrogen base + Sugar backbone DNA
Nucleotide - Esterification of phosphate group and hydroxyl
- Nitrogen base + Sugar backbone + Phosphate group
- Ester- carbonyl carbon bonded to hydroxyl group
I. Nitrogen Base  Hydroxyl group is lost and attach to the phosphate group of
 Classification: incoming nucleotide
o Purine (Guanine, Adenine)  Phosphate group
o Pyrimidine (Cytosine, Uracil(RNA), - Occur in 3 sets
Thymine(DNA)) - Triphosphate
 Significance - Adenine: Nitrogen base
o Interacts when nucleic acids are - Adenosine: Nitrogen base + sugar
creating the secondary structure - Adenosine monophosphate: NB + 1 phosphate
o Secondary structure- formed and  How energy is derived in ATP?
stabilized by Hydrogen bonds - Chemical energy formed via bond formation
between nitrogen bases - The phosphodiester bond in a triphosphate
 Absence molecule is highly exergonic (release energy when
o No mechanism that would allow broken)
- The release of 2 excess phosphate group (the
secondary formation in DNA breakage of the bond between them) will produce
enough energy to fuel the attachment of phosphate
 2 H bonds group to hydroxyl group leading to the production
of primary strand of DNA
 Non-coding - Two nucleotide is linked by phosphodiester bond
 Do not store information and is facilitated by the release of the exergonic
 May denature reaction of the excess phosphate group
 AT rich

Secondary structure
 3 H bonds - One strand
 Stronger/ stable runs 5’ to 3’
 Coding/ storing - Other strand is
antiparallel (3’
information for production to 5’)
of protein - Pairing via
 Not easy to denature Hbond
 GC rich

II. Sugar Backbone Mutagens

 Ribose (RNA) ; Deoxyribose (DNA) - Capable of breaking/ mutating the pairing or
 Function: molecular composition of nucleic acids
o Anchorage between nitrogen base - Leads to abnormalities
Chargaff’s Rule
and phosphate group when - Phenomenon in which A is always pairs with T,
producing a nucleotide and C to G
III. Phosphate Group Erwin Chargaff
 Crucial in the formation of primary structure - Proponent of the phenomenon
How information is stored in chromosome?
- There is a unique sequence in a particular
information
 CYTOGENETICS | PenullarChristelAnnR.2020

- The arrangement of A, T, C, G would be spelled

out into something once the information undergoes
gene expression
Gene
- Unique in a DNA that codes for a certain protein
- TTGACA…./ TATA….. 2. Receptor Enzyme
o Indicator that whatever is coming
after them might be a gene
o Promoting region
- AATTAAGCGC… 3. Receptor (no Enzyme)
o Indicator of the end of the gene
o Termination region
- A region of DNA that has a promoter region, 4. Receptor (Protein)
termination region, and coding region
Transcription
- End up with mRNA sequence
Post- Transcription Cell Division
- mRNA would be processed and become mature
Translation
- formation of protein
- Gly, Val, Cys

Genetic Abnormalities
Mutation
- Abnormalities, alterations in the genetic sequence
that are pathogenic
- E.g. abnormal production of insulin, sickle cell
anemia
Polymorphism
- Random changes which is evolution in action
- General term of any change in a particular region
of a genetic sequence
- E.g. fast/slow digestion of amoxycillin, hair color

Classification of Mutation
Replication
1. Single Nucleotide Polymorphism/ Point Mutation
- AACC AAGC Enzymes
(normal/ wild sequence) (Mutant sequence) 1. Topoisomerase
- Localized effect - Uncoil
- Eg. sickle cell anemia - Enzymes that unwind the double strand ed
2. Indel/ Frameshift Mutation 2. Helicase
- Insertion; deletion - Cut Hydrogen bonds
- Alter the frame in which the DNA is to be read - Results to denature state
 Deletion: AACCTA AACTA 3. Single Strand Binding Protein (SSBP)
- Hold the single strand in place to prevent them
 Insertion: AACCTA AAC ACT A
from reforming
- Massive effect 4. Primase
Genome - Primer (RNA molecule)
- Totality of all genes in an organism
Genomic Mutation 2 Types of Strand
- Abnormality in the level of the chromosome 1. Leading Strand
- Continuous synthesis
I. Structural Abnormality - Epsilon (DNA polymerase)
- Deletion, duplicated, inversion, translocation 2. Lagging Strand
- Have massive effect - Discontinuous synthesis
- Bring instantaneous death 5. - Delta (DNA Polymerase)
DNA Polymerase
II. Numerical Abnormality
- Normal # of chromosomal compliment is 2
- Trisomy 1-12 : deadly
- Trisomy 13 : Patau syndrome - Polymerization
- Trisomy 18 : Edward’s syndrome - Select the appropriate nucleotide
- Trisomy 21 : Down syndrome 6. Ligase
- Other: deadly - Seal the nicks in the lagging strand
- XXY : Klinefelter syndrome *Exonuclease
- XXX : mental retardation, infertility - removes inappropriate compliment
- X : Turner syndrome - proof reading

Cellular Communication/ Signal Transduction “Relay”

- Activated by transcription factor
4 Mechanisms
1. Pass through
CYTOGENETICS | PenullarChristelAnnR.2020