SEMEST

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CYTOGENETICS ER 2
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L E C T U R E 𐰾 A.Y. 2023 – 2024
MODULE 1 : INTRODUCTION TO GENETICS
007
3. Population Genetics
OUTLINE - Division of genetics that looks at the
I. Define Genetics and give its scope genetic makeup of larger groups
II. Enumerate the different branches of Genetics
III. Familiarize how genetics come to be through 4. Quantitative Genetics
history and possible career paths - Highly mathematical field that examines
IV. Defining the subject of genetics and its various statistical relationships between genes and
subdivisions traits.
V. A review of some of the possible career
opportunities in genetics CLASSICAL GENETICS
Transmitting traits from generation to generation
GENETICS  At its heart: is the genetics of individuals and their
families
 Genetics – field of science that examines how traits  Includes the study of cells and chromosomes
are passed; still a young science  Focuses mostly on studying – Physical Traits or
 Genes Phenotypes as a strand-in for the genes that control
- segments of DNA (deoxyribonucleic acid) appearance.
that are the fundamental units of heredity.
- Plays an essential role in how the organism GREGOR MENDEL
looks, behaves & reproduces - humble monk and part-time scientist,
founded the entire discipline of genetics.
 Around 20th Century – laws of inheritance were - He was a gardener
rediscovered. - His observations are simple but have jaw
dropping conclusions
BRIEF HISTORY - Had no access to technology, computers, or
1865 GREGOR MENDEL Documents patterns of pocket calculator
heredity in pea plants.
1869 MIESCHER First identify DNA Classical Genetics is sometimes
(nuclein) referred to as:
1902 SUTTON and Propose chromosome 1. Mendelian Genetics
BOVERI theory of heredity - You start a new scientific discipline and it
1915 MORGAN and his Confirm the theory of gets named after you.
“Fly Room” heredity 2. Transmission Genetics
colleagues - Term refers to classical genetics described
1927 MULLER Shows that x-rays induce how traits are passed on or transmitted
mutations from parents to their offspring.
1928 GRIFFITH Griffith’s transformation
experiments transform non-  Classical Genetics includes the study of cells and
pathogenic bacteria chromosomes (strand of DNA)
strains to pathogenic  CELL DIVISION – is the machine that drives
1930’ HAMMERLING Shows that heredity inheritance.
s information is contained in
the nuclei of eukaryotic  CHROMOSOMES – strand of DNA
cells  Genetics of sex and reproduction are also part of
1931 MCCLINTOCK Demonstrates genetic classical genetics
recombination in corn
 SEX – is what defines males and females from
1941 BEADLE and Described the “one gene –
biological perspective; a person’s gender may also be
TATUM one enzyme” hypothesis
influence by social and cultural factors and may differ
1944 AVERY MCLEOD Show that DNA is the from one’s biological sex.
and MCCARTY “transforming principle”
responsible for heredity  GENDER - influenced by social & cultural factors
1950 CHARGAFF Discovers that A = T and & may differ from one’s biological sex
C = G (Chargaff’s Rule)  DOWN SYNDROME – chromosome disorder;
1952 HERSEY and Use radioactive labeling relies on cell biology and an understanding of what
CHASE to prove that DNA is happens during cell division.
responsible for heredity
1953 WATSON and Propose the double helix  GENETIC COUNSELING – also relies on
CRICK structure of DNA understanding patterns of inheritance to interpret
1961 JACOB and Propose the existence of people’s medical histories from genetic perspective
MONOD mRNA  FORENSICS – uses mendelian genetics to
1990’ --- Genome sequencing determine paternity and to work out who’s with DNA
s projects begin fingerprinting.

FOUR MAJOR SUBDIVISIONS  Genetics of sex & reproduction are part of classical
OF GENETICS genetics
1. Classical or Mendelian
- Describes how physical characteristics MOLECULAR GENETICS
(traits) are passed along DNA and the chemistry of genes
2. Molecular Genetics
- Study of chemical and physical  CLASSICAL GENETICS
structures of DNA - Concentrates on outward appearance
- Close cousin RNA and PROTEINS  MOLECUALR GENETICS
- Covers how genes do their jobs - Study of actual genes

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 Includes all the machinery that runs cells and
manufactures the structures called for by the plans
found in genes
 Includes the physical and chemical structures of
the double helix – DNA (constitute building
instructions for appearance and everything else about
you); it reviews the structure and function of
chromosomes
 RNA (ribonucleic acid)
- complex system of interactions that begins
with transcription – copying DNA’s
messages into somewhat temporary form.
- Carries DNA message through the process
called translation
 Study of gene expression & how the genetic code
works at the levels of DNA & RNA are considered part
of molecular genetics
Parts of Molecular Genetics
1. Study the gene expression (how genes turn on and
off)
2. How the genetic code works
 Research on the causes of CANCER and the hunt for
better treatments, focuses on molecular side of things
because TUMORS result from changes in DNA called
– MUTATIONS
 GENE THERAPY and GENETIC ENGINEERING –
covers subdisciplines of molecular genetics
POPULATION GENETICS
Genetics of groups
 Area in which calculations are used to describe what
goes on genetically
 Study of genetic diversity of a subset of a particular
species
 Help describe the genetic signature of a particular
group
 Helps scientists understand how the collective
genetic diversity of a population influences the
health of individuals within the population
 EVOLUTIONARY GENETICS
- Type of population genetics that involves
studying how traits change overtime.
- Describe genetics of populations from a
mathematical standpoint is also critical to
forensics.
QUALTITATIVE GENETICS
Getting a handle on heredity
 Examines traits that vary in subtle ways and relates
those traits to the underlying genetics of an organism
 Combination of whole suits of genes and
environmental factors.
 Mathematical in nature; takes a rather complex
statistical approach to estimate how much variation
in a particular trait is due to the environment and how
much is actually genetic.
 APPLICATION:
SOME OF COMMON ACTIVITIES THAT OCCUR IN THE
o Determining how heritable a particular
GENETICS LAB:
trait is.
o Allow scientists to make predictions how
offspring will turn out based on
characteristics of the parent organism
 HERITABILITY
- Give some indication of how much a
characteristic can change when selective
breeding is applied.
GENETICS AS A CAREER
 Daily life for someone in genetics can include working
in the lab. Teaching in the classroom, or interacting
with px with their families
 You’ll discover what a typical genetics lab is like, and
then get a quick rundown of a variety of career oaths
in the ever – expanding field of genetics.
EXPLORING A GENETICS LAB
 Genetics lab is a busy place
 LAB BENCHES
- Full of equipment and supplies and
researchers toiling away their workstations
- Raised, flat surface that’s conducive to
working while standing up
EVERY LAB CONTAINS SOME OR ALL OF THE
FOLLOWING:
 Disposable gloves – protect workers from
chemical exposure and to protect DNA and other
materials from contamination.
 Pipettes – for measuring even the tiniest droplets
of liquids with extreme accuracy
o Glassware – for liquid measurement and
storage
o Vials and Tubes – used for chemical
reactions
 Electronic Balances – used for making super precise
measurements of mass
 Chemicals and ultrapure water
 Refrigerator, a freezer, and an ultracold freezer
o Repeated FREEZING and THAWING
causes DNA to break into tiny pieces, which
destroys it – freezers used in genetics labs
aren’t frost-free.
APPARARTUSES:
 CENTRIFUGE
- Separate substances from each other
- spins at extremely high speeds to force
materials to separate
 INCUBATORS
- grow bacteria under controlled conditions
 AUTOCLAVES
- used for sterilizing glassware and other
equipment using extreme heat and
pressure to kill bacteria and viruses.
 LAB NOTEBOOKS
- Used for recording every step of every
reaction or experiment in nauseating detail
- Geneticists must fully replicate (run over and
over) every experiment to make sure the
results are valid
- Also, a legal document that can be used in
court cases
 COMPUTERS PACKED WITH SOFTWARE
- Analyzing results and connection via
internet to vast databases packed with
genetic information.
 Separating DNA from rest of cell’s contents
 Mixing chemicals to analyze DNA samples
 Growing trains of bacteria and viruses
 Using DNA sequencing to learn the order of bases
that compose a DNA strand
 Setting up POLYMERASE CHAIN REACTIONS or
PCR – powerful process that allow scientists to
analyze even tiny amount of DNA.
 Analyzing results of DNA sequencing by comparing
sequences from many different organisms
 Comparing DNA fingerprints
 Holding weekly meetings.
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SORTING THROUGH JOBS IN GENETICS
1. Graduate Student and Post – Doc
- THESIS of DISSERTATION – where
graduates students write a long document;
describes what was done, what it means,
and how it fits in with other people’s research
on the subject
- Graduate students take classes and are
subjected to grueling exams
- Must hold a bachelor’s degree
- Standardized GRE (Graduate Record Exam)
- Determines eligibility for
admission to graduate programs
and may be used for selection for
fellowships and awards
2. Lab Technician
 Often called LAB TECHS – handles most of
day-to-day work in lab.
 In general, lab tech mix chemicals for
everyone else in the lab to use in
experiment.
 May also prepare type of materials such as:
o Bacterial Cultures
o Yeast Cultures
o or other Biological Samples
 responsible for keeping all necessary
supplies straight and washing glassware
 Lab Tech must have a minimum of a
bachelor’s degree in biology or some
related field and need some background in
microbiology.
3. Research Scientist
 Often work in private industries, designing
experiments and directing the activities of lab
techs.
All sorts of industries employ research
scientists, Including:
o Pharmaceutical Companies
- Conduct investigations on
how drugs affect gene
expression and to
develop new treatments,
such as – gene therapy.
o Forensic Labs
- Use research scientists to
analyze DNA found at
crime scenes and to
compare DNA fingerprints.
o Companies that analyze
information generated by
genome projects
o Companies that support work of
other genetics labs
 Research Scientist usually holds a master’s
degree or PhD
 With only bachelor’s degree, several years of
experience as a lab tech may suffice.
4. College or University Professor
 Professors do everything that research
scientists do with the added responsibilities
of teaching courses, writing proposals to get
fund research, and writing papers on
research for publication in reputable, peer-
reviewed journals.
 Supervise lab techs, graduate students,
and post – docs who work in their labs.
5. Clinical Laboratory Director
 Run the laboratories that perform genetic
testing for px.
 These Laboratories must receive special
certifications that ensure that the tests they
perform are accurate and results can be
used for clinical decision-making

 (certifications that is not needed in research
laboratories)
 RESPONSIBILITIES:
o Analyzing and interpreting test
results for px.
o Supervising all laboratory
operations.
6. Clinical Geneticist
 Clinical Geneticist work with px who have
or are at risk for genetic conditions
 Their role generally includes:
o Dx of genetic disorders
o Management and treatment
 They can see px of any age and in variety
of setting
 Evaluate px physical examinations,
laboratory tests, and other medical
evaluations (ultrasounds, x-ryas, or
magnetic resonance imaging MRI)
 Trained to counsel px and their families
about their risks related to any heritable
conditions running through the family.
 Work alongside:
o genetic counselors
o nurses
o and clinical managers
7. Genetic Counselor
 Genetic Counselor are healthcare
professionals with training in both genetics
and psychology.
 Help px who have personal or family history
or genetic condition or individual who may
have higher risk of having child with genetic
condition based on genetic testing.
 Genetic Counselor usually works directly
with the to assemble all their personal
and family medical histories into a family
tree and then looks for patters to determine
which traits or condition may be hereditary.
 Trained to conduct careful and thorough
interviews.
8. Genetic Counseling Assistant
 Relatively new position in the field of
genetics
 Work alongside genetic counselors and
help them with a variety of tasks
 May interact with px, helping to obtain all the
information necessary for clinical visit
 Perform office related tasks: scheduling
px, gathering px family history, and filling out
paper work
 Often have bachelor’s degree in science or
medical related field, and many are
pursuing a master’s degree in genetic
counseling.
TERMINOLOGIES
 HEREDITY
- Passing on of physical or mental
characteristics genetically.
 GENES
- Basic physical and functional unit of
heredity.
 CYTOGENETICS
- Study of inheritance; function and structure
of chromosome
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 DIPLOID
- Two copies of each chromosome

 KARYOTYPE
- Displays all of chromosomes

 LOCI / LOCUS
- Where genes reside at specific locations
on particular chromosome
 ALLELE
- Form of gene at given locus – one allele
per locus and chromosome

 HOMOZYGOUS
- Two alleles being identical

 HETEROZYGOUS
- Two alleles having different nucleotide
sequence, may be caused by mutations

 PHENOTYPE
- Observable traits of individual; interaction
of genes and the environment

 GENOTYPE
- Genetic composition of the individual

 HERITABILITY
- Capability to inherit trait from parent

 DOMINANT
- Manifest itself even when allele is a
heterozygous state.

 RECESSIVE
- Manifest only when gene is in a
homozygous state

 CODOMINANT
- Both alleles in a heterozygous pair are
expressed

 SEX – LINKED
- Mutant allele is located on the X
chromosome – disease expressed in
MALES
- Females with one mutant allele on X
chromosome are CARRIERS of disorder and
DO NOT express disease because “normal”
allele is present

 POINT MUTATIONS
- Change in one base of the DNA

 DELETION MUTATIONS
- A loss of bases in DNA

 INSERTION MUTATIONS
- New DNA sequence added into existing.

ADDITIONAL NOTES:

 LUCA
- “Last universal cell ancestor”
- Thought that we are originated from three
domains of life:
o Bacteria
o Archaea
o Eukarya

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MODULE 2 : BASIC CELL BIOLOGY

CELL PARTS STRUCTURE FUNCTION

OUTLINE Plasma Lipid bilayer Outer boundary of
I. Getting to know the cell Membrane composed of cells that controls
II. Understanding the basics of chromosome, phospholipids and entry and exit of
DNA, and genes cholesterol with substances
proteins that extend Receptor molecules
III. Exploring simple cell division across or are function in
IV. Appreciating the parts of the cell embedded in either intercellular
surface of the lipid communication
bilayer Marker molecules
Process of passing genetic material from one generation to the enable cells to
next depends completely on how cells grow and divide. recognize one
another
REPLICATION Cytoplasm: Water with dissolved Contains enzymes
- A process to reproduce a simple organism such as Cytosol – the ions and molecules that catalyze
bacteria or yeast by simply copying its DNA and splits fluid part Colloid with decomposition and
suspended protein synthesis reactions
in two.
ATP is produced in
RECOMBINATION glycolysis reactions
- Organisms that reproduce sexually and go Cytoskeleton Hollow cylinders Support the
through a complicated dance that includes mixing Microtubules composed of the cytoplasm and form
protein tubulin centrioles, spindle
and matching strands of DNA and then having
25 nm in diameter fibers, cilia, and
the amount of DNA for special sex cells, allowing flagella
completely new genetic combinations for their Responsible for
offspring. movement of
structures in the cell
MITOSIS Actin Filaments Small fibrils of the Provide structural
- Cell division protein actin support to cell and
8nm in diameter microvilli, responsible
MEIOSIS for cell movements
- Production of sex cells Intermediate Protein fibers Provide structural
Filaments 10 nm in diameter support to cells
Cytoplasmic Aggregates of Function depends on
CELL inclusions molecules the molecules; energy
manufactured or storage (lipids,
PARTS OF THE CELL ingested by the cell glycogen), oxygens
May be membrane- transport
bound (hemoglobin, skin
color (melanin), and
others
ORGANELLES NUCLEUS
Nuclear Double membrane Separates nucleus
envelope endorsing the nucleus from cytoplasm and
The outer membrane regulated movement
is continuous with the of materials into and
endoplasmic reticulum out of the nucleus
Nuclear pores extend
through the nuclear
envelope
Chromatin Thin strands of DNA, DNA regulates protein
histones, and other synthesis and the
proteins chemical materials of
Condenses to form the cell; DNA is the
chromosomes during genetic, or hereditary
cell division material
Nucleolus One or more dense Assembly site of large
bodies consisting of and small ribosomal
ribosomal RNA and units
proteins
CYTOPLASMIC ORGANELLES
TWO BASIC KINDS OF ORGANISMS Ribosome Ribosomal RNA and Site of protein
proteins from large synthesis
 NUCLEUS – a compartment filled with DNA and small subunits
surrounded by a membrane: Distributed throughout
the cytoplasm
1. PROKARYOTES Rough ER Membranous tubules Protein synthesis and
- Organisms whose cells lack a nucleus and flattened sacs transport to Golgi
and therefore have DNA floating loosely with attached apparatus
in the liquid center of the cell ribosomes
- Is very simple compared to eukaryotic Smooth ER Membranous tubules Manufactures lipids
cells and flattened sacs with and carbohydrates
2. EUKARYOTES no attached ribosomes Detoxifies harmful
- Organisms that have a well-defined chemicals
Stores calcium
nucleus to house and protect the DNA
Golgi Flattened membrane Modifies, packages,
apparatus sacs stacked on each and distributes
 Basic qualities of prokaryotes and eukaryotes are other proteins and lipids for
similar but not identical. secretion or internal
use
Secretory Membrane bound sac Carries proteins and
vesicle pinched off Golgi lipids to cell surface
apparatus for secretion

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Lysosome Membrane bound Contains digestive
vesicle pinched off enzymes PLASMA MEMBRANE
Golgi apparatus - membrane (thin sheets of molecules
Peroxisome Membrane bound One site of lipid and that act as a barrier) regulates the
vesicle amino acid exchange of nutrients, water, and gases
degradation
that nourish the bacteria cell.
Breaks down
hydrogen peroxide
Proteasomes Tubelike protein Break down proteins
 DNA usually is form of a single, hoop-shaped piece,
complexes in in the cytoplasm floats around the cell; segments of DNA is called
cytoplasm CHROMOSOMES.
Mitochondria Spherical, nod- Major site of ATP
shaped, or threadlike synthesis when CYTOPLASM
structure oxygen is available - Liquid interior of cell
Enclosed by double - Provides cushiony, watery home for the
membrane DNA and other ell companies that carry
Inner membrane forms out the business living.
projections called
CRISTAE
Centrioles Pair of cylindrical Centers for CELLS WITH NUCLES
organelles in microtubule formation EUKARYOTES
centrosome consisting Determine cell
of triplets of parallel  Organisms that have cells with nuclei
polarity during cell
microtubules division  Means: “true nucleus”
Form the basal  Range in complexity from simple, one-celled
bodies of cilia and organisms to complex, multicellular organisms (you)
flagella  Held together by plasma membrane, and sometimes
Spindle fibers Microtubules Assist in the a cell wall surrounds the membrane.
extending from separation of
centrosome to chromosomes during  NUCLEUS
chromosomes and cell division - Most important feature of eukaryotic
other parts of the cell
cell
Cilia Extension of plasma Move materials over
- The membrane-surrounded
membrane containing the surface of cells
doublets of parallel compartment that houses the DNA
microtubules that’s divided into one or more
10 um in length chromosomes.
Flagellum Extension of plasma In humans,
membrane containing responsible for EUKARYOTES PROKARYOTES
doublets of parallel movement of Usually long, string – Usually single, hoop-
microtubules spermatozoa like segments of DNA shaped segment of DNA
55 um in length
Microvilli Extension of plasma Increase surface area Have much LARGER Have much SMALLER
membrane containing of the plasma amounts of DNA; it must amounts of DNA
microfilaments membrane for be tightly wound around
absorption and special proteins.
secretion
Modified to form
sensory receptors Have all sorts of cell Segment of DNA like this
parts called one is called
ORGANELLES CHROMOSOME

Able to carry out Not able to carry out

behaviors behaviors

Only Eukaryotic Transport material

cells are capable of through their cell walls, a
ingesting fluids and process that severely
particles for nutrition limits their dietary
options.

TWO MOST IMPORTANT ORGANELLES:

CELLS WITHOUT NUCLEUS
PROKARYOTES
 organisms composed of cells without nuclei
 means: “before nucleus”
 most common forms of life on earth; we are covered
by trillions of prokaryotic cells – bacteria
CHOLERA
- a severe intestinal disease found most
often in populations without a clean
supply of water.
1. Mitochondria
- Powerhouse of eukaryotic cell, it
pumps out energy by converting ATP
(adenosine triphosphate) – acts like a
battery of sorts, storing energy until it’s
needed every day.
- All eukaryotes have mitochondria
2. Chloroplast
- Unique to plants and algae
- They process the energy from
sunlight into sugars needed to nourish
the plant cells

 All bacteria regardless of temperament, are simple, In most multicellular eukaryotes, cells come in two basic
come – celled, prokaryotic organisms. varieties:
 Exterior of prokaryotic cell is encapsulated by a  Body cells – called somatic cells
CELL WALL – served as the bacteria’s only  Sex cells
protection from the outside world.

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SOMATIC CELLS
- Somatic Cells are produced by simple cell division
called – MITOIS
- Example:
o Skin cells and muscle cells – but under
microscope you’d see that their structures are
very different
- Arrangements of elements change from one cell type
to the next so they can carry out various jobs:
o Intestinal Cells – for digestion
o Fat Cells – for energy storage
o Blood Cells – for oxygen transport to tissues
- Changes that occur only in the DNA of somatic cells
(that is, changes that occur over the course of a
person’s lifetime) cannot be passed from parent to
child.
SEX CELLS
- Sex Cells are specialized cells used for
reproduction.
- Only EUKARYOTIC ORGANISMS engage in sexual
reproduction
- SEXUAL REPRODUCTION
- combines genetic material from two
organisms and requires special preparation
in the form of a reduction in the amount of
genetic material allocated to sex cells – a
process called meiosis.
- Unlike somatic cells, changes in the DNA of sex cells
can be passed from parent to child.
MITOSIS
- occurs in sexually reproducing organism
- Process by which a cell replicates its chromosomes &
then segregates them, producing 2 identical nuclei in
preparation for cell division
Two types of sex cells
 Eggs
 Sperm
NUCLEUS
 Nucleus of eukaryotic organism is home to most of
its DNA
 Mitochondria and Chloroplast also have DNA
TWO COPIES OF GENOME
1. All the DNA inherited from your mother (minus
mitochondrial DNA)
2. All the DNA inherited from your father
 GENOME
- Contains all the information necessary for
human body to grow and develop and for
the various parts of the body to function
every day.
- DNA is measured in base pairs
- Approximately 3 billion base pairs
- It is basically “how-to-guide” for your body
- Contains 23 chromosomes, each cell
contains two set of those 23 for a total of 46
chromosomes on every cell.
- With two copies of genome, DNA from
single cell would measure just over 6 feet if
stretched out and laid end-to-end.
WHERE ARE MY GENES?
EXAMINING THE BASICS OF CHROMOSOMES
 Chromosomes – threadlike strands composed of
DNA.
 Most Prokaryotes have one circular chromosome
that, when copied, is passed on to the DAUGHTER
CELLS – new cells created by cell division.
 Eukaryotes have more complex problems (line
divvying up half the chromosomes to make sex cells)
and their chromosomes behave differently during
mitosis and meiosis.
COUNTING OUT CHROMOSOMES
 Eukaryotic organism has a specific number of
chromosomes per cell – but is different for each
organism.
TWO VARIETIES OF CHROMOSOME
1. Sex Chromosomes
- Determine sex: male or female.
- Human cells contain two sex chromosomes
- FEMALE: two X chromosomes
- MALES: X and Y chromosomes
-
2. Autosomal Chromosomes
- Refers to Non-sex chromosomes
- Humans have 44 autosomal chromosomes
- Identified by numbers – 1 through 22 –
generally arranged based on size, with
chromosome 1 (largest) and chromosome
22 (smallest).
 Chromosomes come in pairs
 Humans have 22 pairs of uniquely shaped autosomal
chromosomes + 1 pair of sex chromosomes = 23
chromosome pairs
 HOMOLOGOUS CHROMOSOMES
- Paired chromosomes are identical in shape
and size.
- Sometimes referred to as “homologs”
 DIPLOID
- Having two copies of each chromosome
- EX: Humans
 HAPLOID
- Cells with one set of chromosomes
- EX: human sex cells such as eggs or sperm
 Other have three, four, or as many as sixteen copies
of each chromosome
 PLOIDY
- Number of chromosome sets held by a
particular organism
 Total number of chromosomes doesn’t tell you what
the ploidy of an organism is; number of chromosomes
an organism has is often listed as some multiple of
n.
o n = haploid number
o humans are 2n = 46 – humans are diploid
and total number of chromosomes is 46
EXAMINING CHROMOSOME ANATOMY
 Chromosomes are often depicted in stick-like forms
 Most of the time they’re loose and string-like
 Chromosomes only take on this distinctive shape and
form when cell division is about to take place – during
METAPHASE OF MEIOSIS or MITOSIS
 CENTROMERE
- Part of chromosome that appears pinched
- Located in the middle of chromosomes
 TELOMERES
- is the end of the chromosomes
- made of densely packed DNA
- serve to protect DNA messages that
chromosomes carry
 most important differences between chromosomes
are hidden deep inside the DNA
 tells the body how, when, and where to make all the
structures that necessary for processes of living
 Chromosome carry GENES – section of DNA that
provide the building plans for specific proteins and
associated with various traits.
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 GENOME contains approximately 22,000 genes with
each chromosome containing a varying number of
genes
 Y CHROMOSOME (smallest) – fewer than 300 genes
 CHROMOSOME 1 (largest) – more than 3000 genes
 Smallest human genes – are few hundred base
pairs in length
 Largest human gene – that encodes the “muscle
protein dystrophin” has 2.4 million base pairs

BASIC STRUCTURE OF
EUKARYOTIC CHROMOSOME

 Each pair of homologous chromosomes carries the

same – but not necessarily identical – genes.
 ALLELE
- Alternative version of genes
- Associated with different physical traits or
phenotypes: hair color or flower shape
 LOCUS / LOCI (plural)
- Each point along the chromosome
- Latin word for “place”

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CYTOGENETICS 2ND SEMESTER : MODUILE 3
MLS 007 𐰾 TERM 1
MODULE 3: LAW OF INHERITANCE

OUTLINE
I. Define Inheritance and related terms
II. Be able to describe Gregor Mendel and his
impact in the study of Genetics
III. Appreciating the work of Gregor Mendel
IV. Understanding inheritance, dominance, and
segregation of alleles

GREGOR MENDEL AND THE

LAW OF INHERITANCE
 In 1900 Mendel's principles were awaiting
rediscovery chromosomes were barely visible, and
the science of molecular genetics did not exist.
 At the time of writing this text in 2010, chromosomes
can be rapidly analyzed to an extraordinary level of
sophistication by microarray techniques and the
sequence of the entire human genome has been
published.
 Some 13,000 human genes with known sequence
are listed and nearly 6500 genetic diseases or
phenotypes have been described, of which the
molecular genetic basis is known in approximately
2650.


BSMLS 𐰾 MUNOZ, HAZELYN S. 9