NSG 533 Pathophysiology Exam 2
2025/2026 Exam Questions and Detailed
Answers | Get it 100% Correct Answers
What is genetics? - 🧠ANSWER ✔✔Study of inherited traits and variations;
examination of a particular/small group of gene(s); focused/individual
picture
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)
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,-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
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STATEMENT. ALL RIGHTS RESERVED
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,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
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STATEMENT. ALL RIGHTS RESERVED
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, 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
Expressed in heterozygous females and hemizygous males; more severe
in males
Heterozygote advantage - 🧠ANSWER ✔✔Possession of single copy does
not result in gene expression and provides benefit, but increases chance to
pass down gene
-sickle cell
-cystic fibrosis
COPYRIGHT©JOSHCLAY 2025/2026. YEAR PUBLISHED 2025. COMPANY REGISTRATION NUMBER: 619652435. TERMS OF USE. PRIVACY
STATEMENT. ALL RIGHTS RESERVED
4
2025/2026 Exam Questions and Detailed
Answers | Get it 100% Correct Answers
What is genetics? - 🧠ANSWER ✔✔Study of inherited traits and variations;
examination of a particular/small group of gene(s); focused/individual
picture
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)
COPYRIGHT©JOSHCLAY 2025/2026. YEAR PUBLISHED 2025. COMPANY REGISTRATION NUMBER: 619652435. TERMS OF USE. PRIVACY
STATEMENT. ALL RIGHTS RESERVED
1
,-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
COPYRIGHT©JOSHCLAY 2025/2026. YEAR PUBLISHED 2025. COMPANY REGISTRATION NUMBER: 619652435. TERMS OF USE. PRIVACY
STATEMENT. ALL RIGHTS RESERVED
2
,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
COPYRIGHT©JOSHCLAY 2025/2026. YEAR PUBLISHED 2025. COMPANY REGISTRATION NUMBER: 619652435. TERMS OF USE. PRIVACY
STATEMENT. ALL RIGHTS RESERVED
3
, 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
Expressed in heterozygous females and hemizygous males; more severe
in males
Heterozygote advantage - 🧠ANSWER ✔✔Possession of single copy does
not result in gene expression and provides benefit, but increases chance to
pass down gene
-sickle cell
-cystic fibrosis
COPYRIGHT©JOSHCLAY 2025/2026. YEAR PUBLISHED 2025. COMPANY REGISTRATION NUMBER: 619652435. TERMS OF USE. PRIVACY
STATEMENT. ALL RIGHTS RESERVED
4
