NIGHTINGALE COLLEGE
PATHOPHYSIOLOGY MIDTERM EXAM
STUDY GUIDE 2026 FULL SOLVED
QUESTIONS AND ANSWERS
⩥ DNA. Answer: Directs the synthesis of all the body's proteins
⩥ DNA Structure - 3 basic components:. Answer: 1. The five-carbon
monosaccharide deoxyribose
2. A phosphate molecule
3. Four types of nitrogenous bases
⩥ Mutations. Answer: Any alteration of genetic material
⩥ Genotype. Answer: The composition of genes at a given locus
⩥ Phenotype. Answer: The outward appearance of an individual, which
is the result of both genotype and environment
⩥ Alleles. Answer: Different forms of a gene
,⩥ Genes. Answer: DNA segments that serve as the key functional units
in hereditary transmission.
⩥ Heterozygous. Answer: When the alleles are not identical
⩥ Homozygous. Answer: having two identical alleles for a trait
⩥ Epigenetics. Answer: Encoded by chemical modifications to DNA and
associated histone proteins, helps determine which of an individual's
genes are active in which cells
⩥ Understand the genetic mechanisms that lead to: Down Syndrome.
Answer: A trisomy of chromosome 21, is the best-known disease caused
by a chromosome aberration. It affects 1 in 800 to 1 in 1000 live births.
⩥ Understand the genetic mechanisms that lead to: Gaucher's Disease.
Answer: Missing the enzyme that breaks down fatty substances called
lipids. Lipids start to build up in certain organs such as your spleen and
liver
⩥ Understand the genetic mechanisms that lead to: Zellweger Disease.
Answer: Caused by defects in any one of 13 genes, termed PEX genes,
required for the normal formation and function of peroxisomes
, ⩥ Understand the genetic mechanisms that lead to: Turner syndrome.
Answer: the presence of a single X chromosome and no homologous X
or Y chromosome, so that the individual has a total of 45 chromosomes
(45,X karyotype)
⩥ Understand the genetic mechanisms that lead to: Kleinfelter
syndrome. Answer: There are at least two X chromosomes and one Y
chromosome in each cell (47,XXY karyotype)
⩥ Impact of alcohol use during pregnancy. Answer: Culturing neural
stem cells in the presence of ethanol leads to dense methylation and
inactivation of loci typically active in neurons. Alters fetal expression of
the DNA methyltransferases (DNMTs).
⩥ Signs of the intentional and unintentional injuries, including
asphyxiation and the injuries described in Table 4.8. Answer:
⩥ Asphyxiation. Answer: Caused by the failure of cells to receive or use
oxygen. Deprivation of oxygen may be partial (hypoxia) or total
(anoxia)
⩥ Asphyxial Injury: Suffocation. Answer: The process of dying as a
result of lack of oxygen, can result from either a lack of oxygen in the
environment or from a blockage of the respiratory airways
PATHOPHYSIOLOGY MIDTERM EXAM
STUDY GUIDE 2026 FULL SOLVED
QUESTIONS AND ANSWERS
⩥ DNA. Answer: Directs the synthesis of all the body's proteins
⩥ DNA Structure - 3 basic components:. Answer: 1. The five-carbon
monosaccharide deoxyribose
2. A phosphate molecule
3. Four types of nitrogenous bases
⩥ Mutations. Answer: Any alteration of genetic material
⩥ Genotype. Answer: The composition of genes at a given locus
⩥ Phenotype. Answer: The outward appearance of an individual, which
is the result of both genotype and environment
⩥ Alleles. Answer: Different forms of a gene
,⩥ Genes. Answer: DNA segments that serve as the key functional units
in hereditary transmission.
⩥ Heterozygous. Answer: When the alleles are not identical
⩥ Homozygous. Answer: having two identical alleles for a trait
⩥ Epigenetics. Answer: Encoded by chemical modifications to DNA and
associated histone proteins, helps determine which of an individual's
genes are active in which cells
⩥ Understand the genetic mechanisms that lead to: Down Syndrome.
Answer: A trisomy of chromosome 21, is the best-known disease caused
by a chromosome aberration. It affects 1 in 800 to 1 in 1000 live births.
⩥ Understand the genetic mechanisms that lead to: Gaucher's Disease.
Answer: Missing the enzyme that breaks down fatty substances called
lipids. Lipids start to build up in certain organs such as your spleen and
liver
⩥ Understand the genetic mechanisms that lead to: Zellweger Disease.
Answer: Caused by defects in any one of 13 genes, termed PEX genes,
required for the normal formation and function of peroxisomes
, ⩥ Understand the genetic mechanisms that lead to: Turner syndrome.
Answer: the presence of a single X chromosome and no homologous X
or Y chromosome, so that the individual has a total of 45 chromosomes
(45,X karyotype)
⩥ Understand the genetic mechanisms that lead to: Kleinfelter
syndrome. Answer: There are at least two X chromosomes and one Y
chromosome in each cell (47,XXY karyotype)
⩥ Impact of alcohol use during pregnancy. Answer: Culturing neural
stem cells in the presence of ethanol leads to dense methylation and
inactivation of loci typically active in neurons. Alters fetal expression of
the DNA methyltransferases (DNMTs).
⩥ Signs of the intentional and unintentional injuries, including
asphyxiation and the injuries described in Table 4.8. Answer:
⩥ Asphyxiation. Answer: Caused by the failure of cells to receive or use
oxygen. Deprivation of oxygen may be partial (hypoxia) or total
(anoxia)
⩥ Asphyxial Injury: Suffocation. Answer: The process of dying as a
result of lack of oxygen, can result from either a lack of oxygen in the
environment or from a blockage of the respiratory airways
