NSG 533 PATHOPHYSIOLOGY FINAL EXAM NEWEST
2024 ACTUAL EXAM COMPLETE ACCURATE QUESTIONS
WITH DETAILED VERIFIED ANSWERS (100% CORRECT
ANSWERS)/ALREADY GRADED A+
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)
-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
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
-tay sach's
Key components to accurate family history (genogram) - ANSWER: -dead, no disease
-dead, disease diagnosis year
-disease and diagnosis year
-no disease (alive)
BRCA 1 and BRCA 2 - ANSWER: Linked to breast and ovarian cancers
APC - ANSWER: Familial adenomatous polyposis = FAP
Rare autosomal dominant colon cancer
2024 ACTUAL EXAM COMPLETE ACCURATE QUESTIONS
WITH DETAILED VERIFIED ANSWERS (100% CORRECT
ANSWERS)/ALREADY GRADED A+
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)
-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
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
-tay sach's
Key components to accurate family history (genogram) - ANSWER: -dead, no disease
-dead, disease diagnosis year
-disease and diagnosis year
-no disease (alive)
BRCA 1 and BRCA 2 - ANSWER: Linked to breast and ovarian cancers
APC - ANSWER: Familial adenomatous polyposis = FAP
Rare autosomal dominant colon cancer
