Cytogenetics Introduction • Karyotype refers to the ordered

arrangement of chromosomes
Cytogenetics
- Branch of genetics deals with study of ❖ Hypotonic Solution
inheritance in relation to the structure, - caused water to enter the cells via
function, and behavior of chromosomes osmosis s, which swelled the cell
- Is a fusion science; joining cytology membranes and separated the
(study of cells) w/ genetics (study of chromosomes, making them easier to
inherited variation) visualize.
✓ This accident was the key that unlocked the
Types of Cytogenetics future of human cytogenetics.
1. Physiological Cytogenetics
2. Molecular Cytogenetics Timeline
3. Immune Cytogenetics
4. Biochemical Cytogenetics
5. Other classification depended on the Definition of Terms
aim of the study: 1. Chromosome
❖ Human Cytogenetics - Thread-like structure
❖ Animals Cytogenetics - Found in nuclei
❖ Plants Cytogenetics 2. Character
- Heritable feature varies among
History individual
A. Gregor Mendel 3. Trait
- 1822-1884 - Pertains to each variant
- Pea plants - A specific characteristics of an individual
- Fundamental Laws of Inheritance 4. True Breeding
B. Walther Flemming - Offspring with the same phenotype
- Australian Cytologist & professor - Organism is homozygous for every gene
- Human chromosomes 5. Hybridization
- Fleming referred to the stain - Mating/crossing of two varieties
C. Waldeyer 6. P
- Introduced word chromosome (colored - Parental generation
body- Greek word) after the discovery of 7. F1
Mendelian inheritance in 1900 - First filial generation
D. Walter Sutton - Offspring of the parental cross
- Developed chromosome theory of 8. F2
inheritance - Second filial generation
- combined cytology & genetics when he - Allow to pollinate/ cross to one another
referred to the study of chromosomes as 9. Genotype
cytogenetics - Genetic composition
E. Painter 10. Phenotype
- Studied meiotic based on his work on - Visible expression
chromosome derived from testicles of 11. Locus(loci)
men - Fixed position on a chromosome where a
- Reported human diploid chromosome particular gene is located
number to be 48 corrected to 46 12. Allele
chromosomes - Alternative for of a gene
- Proposed X &Y chromosome (sex 13. Homozygous
chromosomes) -organism having a pair of identical alleles
F. Levitsky at given locus at given chromosome
- Formulated term karyotype 14. Heterozygous
 - Organism having two different alleles at - Act as protective caps to chromosomes
given locus ends, preventing end-to-end fusion of
15. Genes chromosomes and DNA degradation
- Nucleotide sequence coding resulting after chromosome breakage
- Polypeptide sequence which makes an - Telomeric region, plays a role in synapsis
enzyme or structural protein during meiosis
- Contain tandem repeats of nitrogenous
base sequence TTAGGG over 3-20 kb
at the chromosome ends
Major Areas of Genetics ✓ Cells that have defective or unstable
1. Classical Genetics (Transmission) telomerase will exhibit shortening of
a. Mendel’s Principles chromosomes, leading to chromosome
b. Meiosis & mitosis instability and cell death.
c. Sex determination
d. Sex linkage Classification
e. Chromosomal mapping 1. Telocentric Chromosome
f. Cytogenetics 2. Acrocentric Chromosome
2. Molecular Genetics 3. Submetacentric Chromosome
a. Genome 4. Metacentric Chromosome
b. DNA Structure
c. Chemistry of DNA Basic Concepts of Genetics
d. Transcription Gregor Mendel’s Laws
e. Translation A. 1st Law: Principle of Segregation
f. Control of Gene Expression - Two alleles segregate randomly from
g. DNA Cloning each other during the formation of
3. Evolutionary Genetics gametes
a. Quantitative Genetics - Each genes have two copies (alleles) and
b. Population Genetics each parent will give one copy to a child
c. Evolution
d. Speciation B. 2nd Law: Principle of Independent
e. Population Genetics Assortment
- Two genes assort independently of one
Structure & Organization of Chromosomes another in gamete production

Chromatin Terms
- Complex DNA & protein found in 1. Alleles
eukaryotic cells - Different versions of same gene
- Helps in packing the long DNA molecules 2. Homozygous
inside the cell nuclear - Individual with 2 identical alleles
3. Heterozygous
Structure of Chromosome - Individual with 2 different alleles
1. Consist of two sister chromatids 4. Genotype
- Each comprised of compacted double - refers to the specific allelic composition of
helix DNA individual
2. Centromere 5. Phenotype
- Constriction visible on metaphase, - Refers to outward appearance of an
chromosome two sister chromatid are individual
joined
- essential to the survival of chromosomes Genome
during cell division - Genetic material of an organism
3. Telomere - Sum of all genetic material in an
- Physical ends of chromosomes. individual
 - provides all information about organism Types of RNA
- present in nucleus (nuclear DNA), 1. Messenger RNA (mRNA)
mitochondria (mitochondrial DNA) - Convey genetic information
- Consists of DNA (RNA in RNA viruses) 2. Transfer RNA (tRNA)
- Includes both genes (coding regions) - Molecules to deliver amino acids to the
non-coding regions DNA & genomes of ribosomes
mitochondria & chloroplasts 3. Ribosomal RNA (rRNA)
- Human genome includes: - Links amino acids together to form
• Coding regions of DNA (genes) proteins
• Non-coding regions of the DNA
- Term: suggested in 1920 by Hans DNA RNA
Winkler, professor of Biology Botany Definition Contains Contains
genetic genetic
Gene instructions information
- Functional units of genetic information transcripted
- Sequence/segment of DNA or RNA from DNA to
- Complete of nucleotide segments RNA
- The transmission of genes to an Function Medium of Transfers
organism’s offspring is the basis of the long-term genetic code
inheritance of phenotypic traits stable storage needed for the
DNA & transmission creation of
- Deoxyribonucleic acid of genetic proteins from
- Raw material of inheritance information nucleus to the
- A molecule composed of two chains ribosome
which coil around
- Carrying the genetic instructions used in Structure Double- Sing-stranded
growth, development, functioning of the stranded
body Base Pairing Adenine- A-U
- Hereditary material in humans & other Thymine C-G
organisms Cytosine-
- Located in nucleus, small amount in Guanine
mitochondria Location Nucleus & Cytoplasm &
- Nitrogenous base pair: mitochondria ribosome
Guanine Stability Alkaline Less-stable in
Cytosine conditions alkaline
Thymine conditions
Adenine
Propagation DNA is self- Synthesized
RNA
replicating from DNA
- Polymeric molecule essential in various
when needed
biological roles in:
Unique Protected in Strands are
• Coding
Feature nucleus, tightly continually
• Decoding packed; can made; broken
• Regulation be damaged down reused;
• Expression of Genes by exposure to more resistant
- Structure: UV rays to damage by
Adenine UV rays
Guanine
Uracil
Cytosine
Human Chromosome Nomenclature ❖ bands # increases as it moves from
centromere to telomere
The International System for Human
Cytogenetics Nomenclature or ISCN
- an abbreviated symbolic writing method Mitosis & Meiosis
used to describe genetic changes by A. Mitosis
copy number (dosage) and position - Division of somatic cells
(locus) - If a cell wants to make a duplicate of
- Communication tool for describing human itself, it first must copy its DNA (part of
chromosomes & chromosomal chromosome)
aberrations associated with human - The copies then must be separated &
disease sorted into two sides of the cell
- Served cytogeneticist since 1960 - The cell the splits in two, part of each
- Provide standardized guidelines in parent is carried to the two new cells
descriptive & interpretative reporting of (diploid)
various chromosome aberrations - Results in cells such as internal organs,
skins, bones, blood, etc.
Chromosomal Banding and Identifications - Two daughter cells
Banding Method B. Meiosis
- Launched in early 1970s - Takes place only in the ovaries and
- allow for the identification of testes
chromosomes, but also by their unique - Special type of division that occurs only
banding properties in gametic cells
- Commonly used: - If a cell wants to make a duplicate of
• G- banding itself, it first must copy its DNA (parts of
• Q- banding chromosome)
• R-banding - Results in reproductive cells (sperm,
→ techniques show bands distributed egg cells)
along the entire chromosomes - Part of each parent is carried to the 4
• C-banding new cells
• T-banding - Has evolved to solve a problem
• NOR-banding → Some organisms mate with other
→ techniques used to identify specific organisms – that is, they combine,
chromosome structure that are their genes together (creating
heritable features genetic diversity)

Landmark Use Terms

1. Telomere ❖ MITosis takes the cell and Make It Two
- Cap ends of the chromosomes ❖ Meiosis has to do with sexual reproduction
2. Centromere
- “primary constriction” Cell’s Point of View
- Divides a chromosome into two arms ❖ mITosis results in Identical Twins, mEioSis
3. Define bands results in Egg and Sperm

❖ p – short arm of the chromosome at Interphase

the top - occurs just before mitosis begins
❖ q – long arm at the bottom - DNA is replicated along with organelles
❖ bands are numbered independently on and other cellular components and cell
short & long arms prepares for division
❖ centromere – p10, q10 - Preparatory
Mitosis Cell Division - Chromosomes move to opposite ends of
1. Prophase the cell
- Preparation phase 5. Telophase I & Cytokinesis
- DNA recoils, chromosomes condense - Cell begins to divide into two daughter
- Nuclear membrane disappears cells
- Mitotic spindles begin to form - It’s important to understand that each
2. Metaphase daughter cell can get any combination
- Organizational phase form paternal & maternal
- Chromosomes line up the middle of cell
with the help of spindle fibers attached Meiosis II
to the centromere of each replicated 1. Prophase II
chromosome 2. Metaphase II
✓ Chromosomes reach their maximum state - The chromosomes line up on the spindle
of contraction during this phase. fibers
✓ Metaphase chromosomes traditionally 3. Anaphase II
studied in cytogenetics - Two cells begin to divide
- Chromosomes move to opposite ends of
3. Anaphase each cell
- Separation phase 4. Telophase II & Cytokinesis
- Chromosome split int the middle - Formation of four cells
- Sister chromatids are pulled by spindle - Meiosis is over
fibers to opposite poles of the cell - Each prospective germ cells carries half
the number of chromosomes of somatic
cells
4. Telophase - haploid
- Chromosome along with the cytoplasm
- Its organelles & membranes are divided
into 2 portions

5. Cytokinesis
- actual splitting of the daughter cells
into two separate cells
- occurs differently in both plant and
animal cells

Meiosis Cell Division

Meiosis I
1. Interphase
- Chromosomes have not yet condensed
- Meiosis is prepared by interphase
- Chromosomes have replicated & the
chromatin begins to condense
2. Prophase I
- Chromosomes completely condensed
- Homologous chromosomes pair with
one another (in meiosis)
3. Metaphase I
- Nuclear membrane dissolves
- Homologous chromosomes attach to the
spindle fibers
- Preparation to go to opposite poles
4. Anaphase I