Genetics

Branch of biology concerned with the study of

genetic variation, and heredity in living
organisms.
 Variation
• Characteristics different by which progeny
differs from their parents
• Cause of variation: Sexual Reproduction
• Phenotype: External
appearance of traits
of an individual

• Genotype:
• Genetic constitution
of an organism
 Prof. W. Bateson

Unit of Inheritance: Gene/Mendelian

factors
Prof. W. Bateson
Conducted Hybridization Experiments on garden pea (Pisum sativum) 1856-1863
and proposed Laws of inheritance in living organisms
Mendel’s experiment material
• Available in many varieties on a large scale to
observe alternate traits
• Self pollinated or cross pollinated
• Annual plants with short life cycle. Several
generations could be studied in a short period
• Easily raised , maintained, and handled
• Varieties are available with distinct
characteristics.
 Mendel’s experiment
• Mendel structured his experiments in a way that
he would observe one pair of contrasting
characters at one time. He began
his experiments using purebred lines for
contrasting characters.
• He cross-pollinated two pure lines for contrasting
characters and the resultant offsprings were called
F1 generation(also called the first filial
generation). The F1 generations were then self-
pollinated which gave rise to the F2 generation of
second filial generation.
 Results of Mendel’s Experiments
Crossing a pure tall pea plant with a pure short pea plant
• In the F1 generation, Mendel observed that all plants were tall.
there were no dwarf plants.
• In the F2 generation, Mendel observed that 3 of the offsprings
were tall whereas 1 was dwarf.
• Similar results were found when Mendel studied other
characters.
• Mendel observed that in the F1 generation, the characters of
only one parent appeared whereas, in the F2 generation, the
characters of the other parent also appeared.
• The characters that appear in the F1 generation are called
dominant traits and those that appear for the first time in the F2
generation are called recessive traits.
 Principle of Dominance
When two alternative forms of a trait or character
(genes) are present in an organism, only one of the
factor expresses itself in the F1- progeny and is called
Dominant, while the other that remained masked is
called Recessive.
Law of segregation
Law of Independent Assortment
Concept of Allele
Concept discovered by Mendel: Law of Seggregation
Chromosomes and Alleles
Genome mapping
 Genetic mapping
• Linkage mapping
• A map of where the genes are in relationship with each
other on the chromosome
• Offers firm evidence that a disease
• Provides clue about the position of gene on the
chromosome
• Useful in guiding scientists to identify disease causing
linked genes
• Exploitation of genetic techniques:
Cross breeding experiments
Examination of family histories (Pedigree analysis)
 Procedure of producing genetic map

• Collection of blood/ tissue samples from

diseased family members
• Isolation of DNA
• Examining unique patterns
• Determination of specific characteristics: DNA
markers
Gene Interaction
Differences between Meiosis and Mitosis
• Genetic information passes from
parents to offspring is contained in
GENES carried by chromosomes in
the nucleus.
• Sexual Reproduction producers
offspring that resemble their
parents, but are not identical to
them
 Variation
• Characteristics different by which progeny
differs from their parents
• Cause of variation: Sexual Reproduction
 Genetic factors
Individual of species look similar but they are
not identical, these differences are called
variation

• Inherited variation: Due to genetic causes

Eye color, hair color, skin color
• Environmental variation: Effect of climate, diet,
culture, lifestyle
Autosomal Recessive traits
X-lined Inheritance traits
X-linked Dominant Traits
 Single Gene Disorder
• Caused by DNA changes in one gene
• Predictable inheritance patterns
• More than 10,000 types
• Mutant gene: contains the change responsible
for disease.
• Recessive, dominant, or X-linked
 Single Gene disorder in autosome
• Recessively inherited traits
• Caused by recessive genes in homozygous conditions
• Alkaptonuria blackening of urine on exposure to O2 and
darkening cartilages
• Albinism: lack of pigment melanin, absence of
enzyme tyrosinase which produces melanin
• Thalassemia: Caused by defect in synthesis of globin
polypeptide in RBC, resulting in severe anemia
• Sickle cell anemia:
Sickle cell anemia
X-linked inheritance in Hemophilia
COLOR BLINDNESS
Color Blindness