INTRODUCTION
TO GENETICS
GENETICS
• The study of heredity and variation
of inherited characteristics
• Heredity: The tendency of offspring
to resemble their parents
• Variation: The tendency of
offspring to vary from their parents
GENETICS
• Relatively young branch of
biological science
• Started with the work of
Gregor Johan Mendel
Gregor Johan Mendel (1822 – 1884)
Father of Modern Genetics
• His works on Pisum sativum (Garden
Pea) pioneered the way for the concepts
of genetics.
• He published his work titled,
“Experiments in Plant Hybridization” in
the Annual Proceedings of the natural
History Society of Brunn in 1866.
• Unfortunately, He died unrecognized
with his works.
Gregor Johan Mendel (1822 – 1884)
Rediscovery of Mendel’s Work
• In 1900, three scientists independently
rediscovered Mendel’s work.
1. Carl Corens (Germany)
2. Hugo de Vries (Holland)
3. Erich von Tschermark (Austria)
• Mendel’s finding are now known as
Mendelism or Mendelian Laws of
Inheritance
TERMINOLOGIES IN GENETICS
Gene
• The term gene was coined by Wilhelm Johannsen in 1909; The
term Genetics was coined by William Bateson in 1905
• The gene is the hereditary determining factor
• It is a continuous segment of DNA
• In eukaryotes, the gene occupies a specific position on the
chromosome called the locus (loci)
TERMINOLOGIES IN GENETICS
Chromosome
• The self-replicating genetic structure of cells containing the cellular DNA that bears in
its nucleotide sequence the linear array of genes
Autosome
• A chromosome not involved in sex determination. The diploid human genome
consists of 46 chromosomes (the X and Y Chromosomes)
Sex Chromosome
• The X or Y chromosome in human beings that determines the sex of
an individual. Females have two X chromosomes in diploid cells;
males have an X and a Y chromosome.
TERMINOLOGIES IN GENETICS
Allele
• Also called allelomorphs
• Alleles are alternate forms of a gene which occupy identical loci on
homologous chromosomes
• Allele control the contrasting characters of the same trait
• Usually alleles exists in two different forms:
1. Dominant allele
2. Recessive Allele
TERMINOLOGIES IN GENETICS
Dominant and Recessive Alleles
• Dominant allele will always be expressed; they mask or suppress the expression of
the recessive alleles
• Recessive alleles will only be expressed in the absence of dominant alleles
• Dominant alleles are classically symbolized with capital letters while recessive
alleles are symbolized with small letter
• Example:
• Trait: Height
• Characteristics: Tall and Dwarf
• Dominant: Tall (T)
• Recessive: Dwarf (t)
TERMINOLOGIES IN GENETICS
Genotype and Phenotype
• Genotype: the genetic makeup of an
organism
• Phenotype: The physical manifestation of
the organism; the physical
features/appearance of an organism
• Phenotype is produced not only by the
genotype but also by the interaction
between genotypes and environmental
factors
TERMINOLOGIES IN GENETICS
Homozygous
• A condition in which both the members of an allele pair in the
homologous chromosome are identical (either dominant or
recessive alleles)
• Example: Tall (TT) and Dwarf (tt)
Heterozygous
• A condition in which the members of an allele pair
in the homologous chromosome are not identical
(one dominant and one recessive allele)
• Example: Tall (Tt)
TERMINOLOGIES IN GENETICS
Hemizygous
• A condition in which a gene is present only in one copy
• X-linked recessive traits are more present in males (Colorblindness, hemophilia, etc.)
Dominance
• The ability of an allele to express itself phenotypically both in homozygous (TT)
and in heterozygous (Tt) conditions
Recessive
• The inability of an allele to express itself in heterozygous conditions
TERMINOLOGIES IN GENETICS
Hybridization and Hybrid
• Hybridization is the process of crossing two genetically different
individuals
• A hybrid is the progeny of hybridization
TERMINOLOGIES IN GENETICS
Monohybrid
• An organism which is heterozygous with respect to only one pair of allele at a
locus
• Example: Tall (TT) x Dwarf (tt)
Dihybrid
• An organism which is heterozygous with respect to two pairs of alleles at
two loci
• Example: Yellow Round Seed (YYRR) x Green Wrinkled Seed (yyrr)
TERMINOLOGIES IN GENETICS
Monohybrid Cross
• A cross between two individual organisms which differ
from each other with respect to only one pair of alleles
at a locus
• Example: Tall (TT) x Dwarf (tt)
Dihybrid Cross
• A cross between two individual organisms which
differ from each other with respect to two pairs of
alleles at a locus
• Example: Yellow Round Seed (YYRR) x Green
Wrinkled Seed (yyrr)
TERMINOLOGIES IN GENETICS
F1 and F2 Generation
• F – Filial meaning son
• F1: First generation progeny of a hybridization
• F2: The second filial generation resulting from the
crossbreeding of two F1 generation individuals
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Reciprocal Cross
• Two reverse crosses in which the sexes of the parents are interchanged
• If the traits are autosomal, the reciprocal cross always yield the same result
• If the traits are on sex chromosomes, the reciprocal cross gives different results
TERMINOLOGIES IN GENETICS
Backcross
• The cross of F1 offspring with one of its parents
• If F1 is crossed with dominant parent, all
progenies (F2) will be dominant
• If F1 is crossed with recessive parent,
individuals with both phenotype will appear in
equal proportion
• The ratio of progenies produced during
backcross is called the backcross ratio
TERMINOLOGIES IN GENETICS
Test Cross
• A type of backcross in which the F1 progeny is corssed with its double recessive
parent
• Test cross is used to determine whether the individuals exhibiting dominant
character are homozygous of heterozygous (to detect the genotype of F1)