General Biology 2 Reviewer Genotype refers to the set of alleles possessed by an

organism.
Genetics answers most of our inquiries about how traits
are transmitted from parents to their children. The genotype is homozygous if the alleles are identical.

- Heredity The genotype is heterozygous if the alleles are different.

- Variation
Phenotypes refer to the actual manifestation of
Branches of Genetics genotypes into observable traits.

- Molecular genetics A monohybrid cross is a mating between two individuals

- Cytogenetics
- Transmission genetics
- Population genetics
Molecular genetics deals with DNA and gene expression
and regulation.
Cytogenetics deals with chromosome structure and
behavior during cell division.
Transmission genetics deals with different patterns of
inheritance. Transmission genetics, also called classical
genetics, is the oldest subdiscipline of genetics. It
attempts to predict outcomes of reproduction.
Population genetics deals with how forces of evolution
influence genes in populations.
Brief Background of Gregor Mendel
- Farm Tender
- Father of Genetics
- Beekeeper
- Academician
- Augustinian Monk
- Mendel took the path to priesthood when he
entered Augustinian monastery of St.Thomas
and became monk. This is also where he
performed his pea plant studies.
- Mendel chose the legumes garden peas or
Pisum sativum for his hybridization experiments.
involving one characteristic or one pair of contrasting
traits.
The parental generation consists of the true breeding
initial parents.
The first filial generation consists of the offspring of the P
generation.
The second filial generation consists of the offspring of
F1 gen.
LAW OF DOMINANCE
In a heterozygous individual, one allele (dominant)
completely masks the expression of the other allele
(recessive).
If we assign letters to each allele:
T - tall t - dwarf
Thus, we will have the corresponding genotypes and
phenotypes:
TT - tall Tt - tall tt – dwarf
LAW OF SEGREGATION
The two alleles of a gene in an individual segregate or
separate from each other during gamete formation.

What makes peas ideal for genetic studies?

- They exhibit vigorous growth.

- They can self-fertilize.

- They can cross-fertilize.

A chromosome consists of a DNA molecule, which serve

as the repository of genetic information in cells.

Our chromosomes occur in pairs called homologous

chromosomes.

Paternal (from the father or male parent)

Maternal (from the mother or female parent)

A gene is the basic unit of heredity. It controls the

expression of a biological characteristic. Genes occur in
pairs. Thus, a pair of genes control a particular
characteristic.

Alleles are the alternative forms of a gene.

Law of Independent Assortment
The alleles from different genes are sorted into the
gametes independently of each other. Thus, the
inheritance of these two genes become independent.
Both laws of inheritance (separation & independent
assortment) operate during the Anaphase I of meiosis
during gamete formation.
A dihybrid cross is a mating between two individuals
involving two characteristics or two pairs of contrasting
traits.
Pedigree Analysis
PETER DINKLAGE
- An award-winning American actor who
appeared in numerous films, theater plays, and
TV series such as “The Station Agent” and “The
Game of Thrones”.
- Dinklage was born with achondroplasia, a form
of dwarfism caused by an abnormality in the
bone-producing cells of the growth plates of
long bones such as the femur and the humerus.
Studying inheritance in Peas
- Mating of individuals can be controlled.
- The generation time is relatively shorter.
- The number of offspring is relatively larger.
- Handing the organism is more convenient.
Studying Inheritance in Humans
- Mating can never be done in controlled conditions.
- The generation time is relatively longer.
- The number of offspring is relatively smaller.
- Collection of pertinent information is more tedious.
A pedigree is a pictorial representation of how a trait is
transmitted among the members of a family.
Uses of Pedigrees
- Identification of the mode of inheritance of an
unknown genetic trait.
- Determination of the genotype of an individual with
respect to a trait.
- Determination of the risk of recurrence of a genetic
condition in a family.
A major challenge in pedigree analysis is being able to
collect substantial and accurate information regarding
the history of a family with regard to a genetic condition.
GENETIC COUNSELING
- performed in accredited health institutions
- advice is also given to families at risk of having a
genetic condition
- advice is given to a family with a genetic condition
- elaborates on the genetic, psychological,
developmental aspects.
CONSTRUCTING PEDIGREES
Autosomal Traits
Autosomal traits have their genes located on autosomes,
which are the 44 chromosomes (22 pairs) common for
both males and females.
Autosomal Dominant Inheritance
1. Relatively easier to identify because the affected
individuals manifest the corresponding trait.
2. Affected individuals should have at least one
affected parent (e.g., II-4 from I-1; III-2 from II-2)
3. Autosomal dominant traits have the tendency to
not skip generations.
4. Genotypes can be assigned to all of the
individuals with respect to the identified
inheritance pattern.
- Achondroplasia, an autosomal dominant
condition, is characterized by impaired
conversion of cartilage into bones during
development.
Autosomal Recessive Inheritance
1. Analysis is relatively more challenging because
individuals may have the allele but do not
express them (i.e., carriers).
2. Affected individuals may have both unaffected
parents (e.g., both parents of III-3 are
unaffected).
3. Autosomal recessive traits have the tendency to
skip generations.
4. Genotypes can be assigned to all of the
individuals with respect to the identified
inheritance pattern.
Cystic fibrosis is an autosomal recessive condition that is
characterized by the buildup of mucus in respiratory and
digestive organs, which results in various other
complications.
Sickle cell anemia is a recessive mutation of the
hemoglobin gene. Gas transport is impaired, and the
sickle-shaped red blood cells may become stuck in small
blood vessels.
SEX LINKAGE
Recombination increases genetic diversity. This is the
reason why you and your sibling look different even if
your genes are inherited from the same parents.
Human Chromosomes
The 1st to 22nd pairs are called the autosomes, and the
23rd pair is termed as the sex chromosome.
Genes that go along with either sex chromosome are
said to be sex-linked.
- When the trait is linked to the X chromosome, it
is called an X-linked trait.
- If the trait is linked to the Y chromosome, it is
called a Y-linked trait.
X-linked Trait
The X-linked trait is more common in males than in
females.
- Even if the mother is just a carrier of the trait
and the father is normal, there is still a
possibility that they will have an offspring with
an X-linked trait.
- Generally, males have a 1/2 or 50% chance (50%
chance of being normal or 50% chance of
possessing the X linked trait) to express the trait.
- Females only have 1/3 or 33.3% chance (33.3%
chance of being normal, 33.3% chance of being
a carrier, and 33.3% chance of manifesting the
X-linked trait) of acquiring the trait.
COLOR BLINDNESS (DICHROMATISM)
Color Blindness Is an X- linked Trait
Colorblindness is the inability to distinguish
certain colors.
The Ishihara chart is used as a test for color
blindness.
Hemophilia is an X-linked Trait
- Hemophilia is a rare inherited bleeding disorder.
- People with this condition bleed longer after an
injury as compared to a normal person.
Y-linked Trait
- The Y-linked trait is only common in males since
only males have the Y chromosome.
- Passed from father to son thus, all sons having
the affected allele express the trait
SRY gene determines the “maleness” or male sex
determination and development
- One example is the hypertrichosis pinnae auris
trait, which is characterized by having a hairy
ear.
-
Sex-Related Inheritance
As opposed to Mendelian inheritance wherein the
heterozygous genotype expresses the dominant trait,
the heterozygous genotype of an X-linked trait in
females will result in a carrier female.
Sex-influenced Trait
- Sex-influenced traits are controlled by
autosomal genes.
- The genes are found on both sexes, but one
expresses it more than the other.
Sex-limited Trait
- Sex-limited traits are also controlled by
autosomal genes.
- The genes are also found on both sexes, but only
one sex expresses it.