Nightingale College: SCI225-22 Pathophysiology
2023-1 QUESTION AND ANSWERS
1. Heterozygous - Definition:
A genetic condition where an individual has two
ditterent 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 ottspring.
The phenotype of a heterozygous individual may also
be intermediate between the two homozygous
conditions.
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 ditterent forms, called alleles, that
determine a specific trait, such as eye color.
,Nightingale College: SCI225-22 Pathophysiology 2023-1 (Midterm Feb 2
2023) QUESTION AND ANSWERS
-
, Nightingale College: SCI225-22 Pathophysiology 2023-1 (Midterm Feb 2
2023) QUESTION AND ANSWERS
-
Homozygosity mapping is a technique used to identify the specific genes respon-
sible for inherited disorders by comparing the DNA of attected and unattected
individuals who are homozygous for a particular region of the genome.
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
ditterent 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.
4. Phenotype - Definition:
, Nightingale College: SCI225-22 Pathophysiology 2023-1 (Midterm Feb 2
2023) QUESTION AND ANSWERS
-
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 suscepti- bility to certain diseases, and
can inform medical treatment and management.
Example:
2023-1 QUESTION AND ANSWERS
1. Heterozygous - Definition:
A genetic condition where an individual has two
ditterent 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 ottspring.
The phenotype of a heterozygous individual may also
be intermediate between the two homozygous
conditions.
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 ditterent forms, called alleles, that
determine a specific trait, such as eye color.
,Nightingale College: SCI225-22 Pathophysiology 2023-1 (Midterm Feb 2
2023) QUESTION AND ANSWERS
-
, Nightingale College: SCI225-22 Pathophysiology 2023-1 (Midterm Feb 2
2023) QUESTION AND ANSWERS
-
Homozygosity mapping is a technique used to identify the specific genes respon-
sible for inherited disorders by comparing the DNA of attected and unattected
individuals who are homozygous for a particular region of the genome.
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
ditterent 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.
4. Phenotype - Definition:
, Nightingale College: SCI225-22 Pathophysiology 2023-1 (Midterm Feb 2
2023) QUESTION AND ANSWERS
-
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 suscepti- bility to certain diseases, and
can inform medical treatment and management.
Example:
