NSG 533 ADVANCED PATHOPHYSIOLOGY
EXAM 1 COMPREHENSIVE EXAM 2026
COMPLETE Q AND A MASTER SOLUTION
⩥ What is genomics? Answer: Total genetic composition of
organism/species; analysis of entire species genome; broad view
⩥ Gene Answer: Basic unit of heredity that codes for specific protein
leading to a characteristic or function
⩥ Allele Answer: One version of a gene at a given location along a
chromosome
⩥ Mutant alleles Answer: Can be:
-disease causing mutations
-polymorphism (alterations with normal gene function)
-variant of unknown significance
⩥ Phenotype Answer: Observable physical / biochemical characteristics
of gene expression; clinical presentation
⩥ Variability is a good reason because Answer: -maintains robust
population
,-homogeneity weakens d/t inability to adapt
-may leave it more vulnerable to others
⩥ Penetrance Answer: Proportion of individuals with mutation who
exhibit clinical symptoms
Huntington's = 100% penetrance
⩥ Consanguinity Answer: Genetic relatedness between individuals
descending from at least one common ancestor
Increases autosomal recessive diseases
⩥ Anticipation Answer: Tendency for disorders in successive
generations to present at an earlier age and/or with more severe
manifestations
⩥ Mosaicism Answer: Occurrence of two or more cell lines with
different genetic or chromosomal constitutions
⩥ Gene Deletion Answer: Absence of a DNA segment; likely most
critical d/t loss of genetic material
, ⩥ Gene Duplication Answer: Presence of an extra DNA segment
resulting in redundant portions, an entire gene, or a series
-caused by unequal crossing-over during gene replication
⩥ Gene Inversion Answer: Chromosomal rearrangement; segment has
inverted and reinserted at the same breakage site
-balance: usually no abnormalities
-unbalanced: almost always abnormal
⩥ Gene Translocation Answer: Chromosomal alteration; whole/segment
chromosome becomes attached or interchanged with another
whole/segment chromosome
⩥ Gene Mutation Answer: Any alteration in a gene from its natural state;
disease causing or benign
⩥ Autosomal dominant Answer: Phenotype expressed in those who only
have one copy of gene mutation
⩥ Autosomal recessive Answer: Phenotype expressed in those who have
two copies of gene mutation
⩥ X-linked dominant Answer: Dominant trait caused by mutation in X
chromosome
EXAM 1 COMPREHENSIVE EXAM 2026
COMPLETE Q AND A MASTER SOLUTION
⩥ What is genomics? Answer: Total genetic composition of
organism/species; analysis of entire species genome; broad view
⩥ Gene Answer: Basic unit of heredity that codes for specific protein
leading to a characteristic or function
⩥ Allele Answer: One version of a gene at a given location along a
chromosome
⩥ Mutant alleles Answer: Can be:
-disease causing mutations
-polymorphism (alterations with normal gene function)
-variant of unknown significance
⩥ Phenotype Answer: Observable physical / biochemical characteristics
of gene expression; clinical presentation
⩥ Variability is a good reason because Answer: -maintains robust
population
,-homogeneity weakens d/t inability to adapt
-may leave it more vulnerable to others
⩥ Penetrance Answer: Proportion of individuals with mutation who
exhibit clinical symptoms
Huntington's = 100% penetrance
⩥ Consanguinity Answer: Genetic relatedness between individuals
descending from at least one common ancestor
Increases autosomal recessive diseases
⩥ Anticipation Answer: Tendency for disorders in successive
generations to present at an earlier age and/or with more severe
manifestations
⩥ Mosaicism Answer: Occurrence of two or more cell lines with
different genetic or chromosomal constitutions
⩥ Gene Deletion Answer: Absence of a DNA segment; likely most
critical d/t loss of genetic material
, ⩥ Gene Duplication Answer: Presence of an extra DNA segment
resulting in redundant portions, an entire gene, or a series
-caused by unequal crossing-over during gene replication
⩥ Gene Inversion Answer: Chromosomal rearrangement; segment has
inverted and reinserted at the same breakage site
-balance: usually no abnormalities
-unbalanced: almost always abnormal
⩥ Gene Translocation Answer: Chromosomal alteration; whole/segment
chromosome becomes attached or interchanged with another
whole/segment chromosome
⩥ Gene Mutation Answer: Any alteration in a gene from its natural state;
disease causing or benign
⩥ Autosomal dominant Answer: Phenotype expressed in those who only
have one copy of gene mutation
⩥ Autosomal recessive Answer: Phenotype expressed in those who have
two copies of gene mutation
⩥ X-linked dominant Answer: Dominant trait caused by mutation in X
chromosome
