Nightingale College: SCI225-22 Pathophysiology 2023-1 (Midterm Feb 27, 2023)
Study online at https://quizlet.com/_fbv2hd
1. Heterozygous - Definition:
A genetic condition where an individual has two different
alleles for a particular gene.
- Pathophysiology:
This condition occurs when an individual inherits one
dominant allele and one recessive allele for a specific gene,
leading to expression of the dominant allele.
- Example:
A common example is the presence of one normal
hemoglobin allele and one sickle cell allele, leading to the
expression of sickle cell trait.
- Clinical significance: individuals are often carriers of a genetic
condition and can pass it on to their offspring. The phenotype
of a heterozygous individual may also be intermediate
between the two homozygous conditions.
, 2026 Nightingale College: SCI225-22 Pathophysiology (Midterm Feb 27, 2026)
2. Homozygous
- Definition: an individual who inherits the same pair of
genes for a particular trait from both parents.
- Pathophysiology:
The genetic material of an individual is comprised of
chromosomes which carry genes.
A gene can have different forms, called alleles, that determine
a specific trait, such as eye color.
When an individual inherits two copies of the same allele from
both parents, they are homozygous for that trait.
Homozygous individuals are typically more predictable in
their traits than heterozygous individuals.
- Clinical Significance: individuals play a crucial role in genetic
studies, as their genetic makeup allows for more definitive
conclusions about the effect of a particular gene on a
particular trait.
Homozygosity can also increase the risk of certain genetic
disorders when a person inherits two copies of a gene that
causes a disease.
, Nightingale College: SCI225-22 Pathophysiology 2023-1 (Midterm Feb 27, 2023)
Study online at
https://
quizlet.c
om/_fb
v2hd -
Scientific Information: can be described as either complete
(having two identical copies of a gene) or incomplete
(having two slightly different copies of a gene).
The frequency of homozygosity in a population can affect the
incidence of genetic disorders.
3. Genotype - Definition:
The genetic makeup of an organism, represented by the
combination of genes it carries, which determines its inherited
traits.
- Pathophysiology: determined by its DNA and is passed
down from its parents. The genes in the DNA code for
specific traits, and variations in the DNA sequence can result
in different traits or susceptibility to certain diseases.
- Clinical significance: important in genetics, medicine,
and biotechnology, as it can provide information about a
person's inherited traits, predisposition to certain diseases,
and potential responses to medications.
- Note: can be influenced by environmental factors such
as diet, lifestyle, and exposure to toxins. The observable
traits of an organism, including physical, behavioral, and
metabolic characteristics, are referred to as its phenotype.
, 2026 Nightingale College: SCI225-22 Pathophysiology (Midterm Feb 27, 2026)
4. Phenotype - Definition:
The observable characteristics of an individual, resulting from
the interaction between the individual's genetic makeup and
environmental factors.
- Factors:
l is determined by the combination of genes they inherit
from their parents, as well as environmental factors such as
diet, lifestyle, and exposure to toxins. - Importance: can
provide valuable information about their health and
susceptibility to certain diseases, and can inform medical
treatment and management.
Homozygosity mapping is a technique used to identify the
specific genes responsible for inherited disorders by
comparing the DNA of affected and unaffected individuals
who are homozygous for a particular region of the genome.
Study online at https://quizlet.com/_fbv2hd
1. Heterozygous - Definition:
A genetic condition where an individual has two different
alleles for a particular gene.
- Pathophysiology:
This condition occurs when an individual inherits one
dominant allele and one recessive allele for a specific gene,
leading to expression of the dominant allele.
- Example:
A common example is the presence of one normal
hemoglobin allele and one sickle cell allele, leading to the
expression of sickle cell trait.
- Clinical significance: individuals are often carriers of a genetic
condition and can pass it on to their offspring. The phenotype
of a heterozygous individual may also be intermediate
between the two homozygous conditions.
, 2026 Nightingale College: SCI225-22 Pathophysiology (Midterm Feb 27, 2026)
2. Homozygous
- Definition: an individual who inherits the same pair of
genes for a particular trait from both parents.
- Pathophysiology:
The genetic material of an individual is comprised of
chromosomes which carry genes.
A gene can have different forms, called alleles, that determine
a specific trait, such as eye color.
When an individual inherits two copies of the same allele from
both parents, they are homozygous for that trait.
Homozygous individuals are typically more predictable in
their traits than heterozygous individuals.
- Clinical Significance: individuals play a crucial role in genetic
studies, as their genetic makeup allows for more definitive
conclusions about the effect of a particular gene on a
particular trait.
Homozygosity can also increase the risk of certain genetic
disorders when a person inherits two copies of a gene that
causes a disease.
, Nightingale College: SCI225-22 Pathophysiology 2023-1 (Midterm Feb 27, 2023)
Study online at
https://
quizlet.c
om/_fb
v2hd -
Scientific Information: can be described as either complete
(having two identical copies of a gene) or incomplete
(having two slightly different copies of a gene).
The frequency of homozygosity in a population can affect the
incidence of genetic disorders.
3. Genotype - Definition:
The genetic makeup of an organism, represented by the
combination of genes it carries, which determines its inherited
traits.
- Pathophysiology: determined by its DNA and is passed
down from its parents. The genes in the DNA code for
specific traits, and variations in the DNA sequence can result
in different traits or susceptibility to certain diseases.
- Clinical significance: important in genetics, medicine,
and biotechnology, as it can provide information about a
person's inherited traits, predisposition to certain diseases,
and potential responses to medications.
- Note: can be influenced by environmental factors such
as diet, lifestyle, and exposure to toxins. The observable
traits of an organism, including physical, behavioral, and
metabolic characteristics, are referred to as its phenotype.
, 2026 Nightingale College: SCI225-22 Pathophysiology (Midterm Feb 27, 2026)
4. Phenotype - Definition:
The observable characteristics of an individual, resulting from
the interaction between the individual's genetic makeup and
environmental factors.
- Factors:
l is determined by the combination of genes they inherit
from their parents, as well as environmental factors such as
diet, lifestyle, and exposure to toxins. - Importance: can
provide valuable information about their health and
susceptibility to certain diseases, and can inform medical
treatment and management.
Homozygosity mapping is a technique used to identify the
specific genes responsible for inherited disorders by
comparing the DNA of affected and unaffected individuals
who are homozygous for a particular region of the genome.
