NSG 533 Pathophysiology Exam 2 2025
Questions and 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)
-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
…FOR STUDENTS ONLY…©️2025 ALL RIGHTS RESERVED… 1
,-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
…FOR STUDENTS ONLY…©️2025 ALL RIGHTS RESERVED… 2
, -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
…FOR STUDENTS ONLY…©️2025 ALL RIGHTS RESERVED… 3
Questions and 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)
-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
…FOR STUDENTS ONLY…©️2025 ALL RIGHTS RESERVED… 1
,-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
…FOR STUDENTS ONLY…©️2025 ALL RIGHTS RESERVED… 2
, -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
…FOR STUDENTS ONLY…©️2025 ALL RIGHTS RESERVED… 3
