GENETICS INTRODUCTION

} Definition
• heredity: the sum of all biological processes by which particular characteristics
are transmitted from parents to their offspring (passing of one genetic
characteristic; physical and genetical of one generation to the next)

• Genetic variation - refers to diversity in gene frequencies; occurs in genome;

factors affecting: environment and sexual reproduction; same genomes have
environment for ano

• Twins: monozygotic/identical (same genome); dizygotic/fraternal

• Rear in diff environment

Stability in diversity
Variation > diversity > evolution
Clones>asexual reproduction>same genotype

} Brief History
} Areas and Methods of Genetic Study
} Applications

DEFINITION
} Greek word “gen” – grow into something;
} coined by William Bateson (1906)
} Deals with principles of heredity and variation in all living organisms
} seeks to understand the molecular and physical bases of biological diversity, the
mechanisms resulting from these diversities, and the principles that govern their
heredity from one generation to another

BRIEF HISTORY
} Gregor Mendel (1822 – 1884)
• hereditary characteristics were determined by “elementary factors” that are
transmitted between generations in a uniform, predictable fashion
• Results on pea experiments published in 1866 but remained unappreciated until 1900*
* Hieracium sp. – apomictic (maternal inheritance)
• Pea (studied on 7 characters that
showed contrasting traits: Pea shape,
pea color, pod shape, pod color,
flower color, plant size, position of
flowers)
• Apomixis: diff forms of apomixis:
diposplory, apospory, and
adventitious embryony
 OTHER IMPORTANT SCIENTISTS:
- Research on their important contributions to the field of Genetics
1. Carl Correns (Germany); Erick Von Tschermak (Austria); Hugo de Vries (Holland)
(1900)
- rediscoverers of Mendel
• rediscovered Mendel through different plants: Zea mays and primrose

2. Bateson, Saunders and Cuenot (1902)

- Mendel’s principles applied to animals
• applied principles of mice
• Mendel planned controlled breeding; mice because v. Large number of
offspring (eg rabbits)

3. Walter Sutton (USA) Theodor Boveri (Germany) (1903)

- Chromosome Theory of Inheritance
• Inherited traits are controlled by genes residing in chromosomes that are
fatefully transmitted through generations maintaining genetic continuity
from one generation to the next
• association mendelian factors with the chromosomes
• resemblance of the behavior of mendelian factors: elementary
unit factors of Mendel (carried in chromosomes) and separation
of Homologous chromosome during Meiosis (Anaphase I)
• worked independently

4. Thomas Hunt Morgan (1910) Calvin Bridges (1916)

- association between specific genes and specific chromosomes
• unit of distance between genes
• confirm the chromosome theory of inheritance: genes reside in
chromosome
• discover the chromosome and sex link characters
• demonstrate the association bet spec genes and spec chromosomes
• one chromosome has many genes
• linkage group = kinds of chromosomes; 23 chromosomes and linkage
groups; 100,000 genes
• DNA in genetic material and not protein: DNA and RNA (DNA ang genetic
material)

5. Frederick Griffith (1928)

- Transformation experiment
• bacterium: Streptococcus pneumoniae;
• 2 strains: S and R strains
• R strains: non-pathogenic
• NO CAPSULE
• When he injected the R strains, no pneumonia and no
isolated cells (so it was engulfed)
 • S strains: formed colonies (Omicron and Delta);
• structure outside cell wall and CAPSULE
• Capsule allows evading
• When Streptococcus pneumoniae was injected to mice,
it got PNEUMONIA
• When he tried to isolate the cells that caused the death
of the mice, he was able to isolate the S STRAINS

• E coli: E.coli: used to be harmless; mutated pathogenic genes

• Alive R strain + heat killed S strain = mice died; S STRAIN cells isolated
• Transforming principle: Transformation experimation:
• There was a transformation principle in the heat-killed S
strain that was transferred to the R strain causing it to
be pathogenic

-
6. Oswald T. Avery, Collin M. Macleod, and Maclyn McCarty - 1944
- Isolated and characterized Griffith’s “transforming substance”
• isolate, purify and characterized transforming substance
• 75L of bacteria: isolate and purify 10-15 mg for characterization (general
properties of transforming substance: (1) viscous, milky sheen/ mucous like,
(2) loses its activity to H20 (3) but retain in physiological saline solution (4)
withstand heating at 65’Centigrade for 50-60 minutes

• Qualitative and Chemical test for PROTEIN, LIPIDS, RNA and DNA:
• Protein-negative; Lipid: negative- RNA: weakly positive; DNA-
positive
• Elementary chemical analysis (NP ratio): Nitrogen-phosphorous
ratio was typical of characteristics of NUCLEIC ACIDS not protein

• UV Absorption (minimum and maximum): typical of nucleic acid and not

protein
 • Enzymatic analysis: they subjected the transforming principle to ENZYME
(Protease) and tried to see if nawawala ang activity
• Nawala ang activity: susceptible/degrade

7. Alfred Hershey and Martha Chase (1952)

- Blender experiment
• 2 set-ups: P32 and S35 using isotopes of Phosphorus and Sulfur
• Isotopes used for labeling radioactive compounds
• P32 used to label: DNA
• S35 used to label: Protein
• Concluded : bacteriophage (virus that infects bacteria
• Virus structure: Protein capsid and genetic material
 8. Researchers involved in the discovery of the structure of DNA
a. Rosalind Franklin
- Expert on x-ray diffraction techniques
• Big help in double helix structure of DNA
• Should be credited
b. Maurice Wilkins
- Boss of Rosalind Franklin
c. Francis Crick and James Watson
- Credited with the discovery of the structure of DNA by building DNA model
• Didn’t do an experiment
• Did the model based on other scientists
• Watson doctor in Microbiology; Crick doctor in biophysics
d. Linus Pauling
- laid intellectual framework for the double helix model of DNA
• proposed first the structure of DNA (but not double helix)

e. Erwin Chargaff
- Chargaff’s Rule
• Basis of specificity of base pairing which is important characteristics of DNA
for its fateful replication: A:T not C
f. Jerry Donohue
- Keto structure of guanine
• Configuration enol or keto

3 General Areas of Genetics:

1. Classical Genetics
} Concerned with the chromosomal theory of inheritance

2. Molecular Genetics
} Study of the genetic material: its structure, replication and expression, as well as the
information revolution emanating from the discovery of recombinant DNA techniques

3. Evolutionary Genetics
} Study of the mechanisms of evolutionary change, or changes in gene frequencies in
populations
Methods of Genetic Study:

1. Classical Genetics
a. Controlled breeding experiments
• Factors to consider in choice of test organism
i. kinds of variation
ii. Sexual reproduction or system of recombination
iii. Controlled mating
iv. Short generation time
v. Large number of offspring
vi. Convenience of caring

b. Pedigree analysis
} Single gene inheritance
} Disadvantages:
i. Based on subjective recall
ii. Accuracy of information difficult to test
iii. Presence of illegitimate children may not be revealed
• Limitation: it can determine the mode of inheritance of characters that
are due to just a single pair of alleles or single pair inheritance
• Pedigree chart
 c. Statistical analyses
- Number of offspring is small or number of generations available is not sufficient
- Use statistical tests to predict probability of occurrence of traits in untried crosses (e.g.
x2 test)
• Breeders:

d. Karyotyping
} Uses:
i.Determine the normal chromosome number of the
species  establishment of new species
ii. Detection of chromosomal aberrations
- option for “therapeutic abortion”
iii. Determine sex of the individual
• Meant to determine the chromosomal; extra/missing chromosomes, etc.

e. Twin studies
- Concordance vs. discordance
- Genotype vs. environmental influence on phenotype
• Determine whether a character is environmentally or genetically determined
• Concordance: both twins manifest same trait; Discordant: only one twin
manifest the trait

2. Molecular Genetics
} recombinant DNA technology  began with the discovery of
restriction endonucleases
} foreign DNA in plasmids introduced in bacterium and
replicated  determine base sequence of foreign DNA
} can locate and study disease causing genes (e.g for cystic
fibrosis, muscular dystrophy, resistance genes)
• recent field of genetics (fast evolving)
• restriction: cuts genetic material
- Somatic Cell Gene Therapy
• concerned with abnormal gene and replaced with normal gene

3. Evolutionary Genetics
} Evolution  change in allelic frequencies in a population over
time
} Electrophoresis and subsequent DNA sequencing 
polymorphisms existing within natural populations
• Evolution: one reason of diversity
• Nature does selection

Applications of Genetics
} Plant and Animal Improvement
} Medicine
} Genetic Counseling
} Legal Applications