NSG 533 Pathophysiology Exam 2
Questions With Complete
Solutions
What is genetics? - Correct answerStudy of inherited traits and variations;
examination of a particular/small group of gene(s); focused/individual picture
What is genomics? - Correct answerTotal genetic composition of organism/species;
analysis of entire species genome; broad view
Gene - Correct answerBasic unit of heredity that codes for specific protein leading
to a characteristic or function
Allele - Correct answerOne version of a gene at a given location along a
chromosome
Mutant alleles - Correct answerCan be:
-disease causing mutations
-polymorphism (alterations with normal gene function)
-variant of unknown significance
Phenotype - Correct answerObservable physical / biochemical characteristics of
gene expression; clinical presentation
Variability is a good reason because - Correct answer-maintains robust population
-homogeneity weakens d/t inability to adapt
-may leave it more vulnerable to others
Penetrance - Correct answerProportion of individuals with mutation who exhibit
clinical symptoms
Huntington's = 100% penetrance
Consanguinity - Correct answerGenetic relatedness between individuals
descending from at least one common ancestor
Increases autosomal recessive diseases
, Anticipation - Correct answerTendency for disorders in successive generations to
present at an earlier age and/or with more severe manifestations
Mosaicism - Correct answerOccurrence of two or more cell lines with different
genetic or chromosomal constitutions
Gene Deletion - Correct answerAbsence of a DNA segment; likely most critical d/t
loss of genetic material
Gene Duplication - Correct answerPresence 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 - Correct answerChromosomal rearrangement; segment has
inverted and reinserted at the same breakage site
-balance: usually no abnormalities
-unbalanced: almost always abnormal
Gene Translocation - Correct answerChromosomal alteration; whole/segment
chromosome becomes attached or interchanged with another whole/segment
chromosome
Gene Mutation - Correct answerAny alteration in a gene from its natural state;
disease causing or benign
Autosomal dominant - Correct answerPhenotype expressed in those who only have
one copy of gene mutation
Autosomal recessive - Correct answerPhenotype expressed in those who have two
copies of gene mutation
X-linked dominant - Correct answerDominant trait caused by mutation in X
chromosome
Expressed in heterozygous females and hemizygous males; more severe in males
Heterozygote advantage - Correct answerPossession 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
Questions With Complete
Solutions
What is genetics? - Correct answerStudy of inherited traits and variations;
examination of a particular/small group of gene(s); focused/individual picture
What is genomics? - Correct answerTotal genetic composition of organism/species;
analysis of entire species genome; broad view
Gene - Correct answerBasic unit of heredity that codes for specific protein leading
to a characteristic or function
Allele - Correct answerOne version of a gene at a given location along a
chromosome
Mutant alleles - Correct answerCan be:
-disease causing mutations
-polymorphism (alterations with normal gene function)
-variant of unknown significance
Phenotype - Correct answerObservable physical / biochemical characteristics of
gene expression; clinical presentation
Variability is a good reason because - Correct answer-maintains robust population
-homogeneity weakens d/t inability to adapt
-may leave it more vulnerable to others
Penetrance - Correct answerProportion of individuals with mutation who exhibit
clinical symptoms
Huntington's = 100% penetrance
Consanguinity - Correct answerGenetic relatedness between individuals
descending from at least one common ancestor
Increases autosomal recessive diseases
, Anticipation - Correct answerTendency for disorders in successive generations to
present at an earlier age and/or with more severe manifestations
Mosaicism - Correct answerOccurrence of two or more cell lines with different
genetic or chromosomal constitutions
Gene Deletion - Correct answerAbsence of a DNA segment; likely most critical d/t
loss of genetic material
Gene Duplication - Correct answerPresence 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 - Correct answerChromosomal rearrangement; segment has
inverted and reinserted at the same breakage site
-balance: usually no abnormalities
-unbalanced: almost always abnormal
Gene Translocation - Correct answerChromosomal alteration; whole/segment
chromosome becomes attached or interchanged with another whole/segment
chromosome
Gene Mutation - Correct answerAny alteration in a gene from its natural state;
disease causing or benign
Autosomal dominant - Correct answerPhenotype expressed in those who only have
one copy of gene mutation
Autosomal recessive - Correct answerPhenotype expressed in those who have two
copies of gene mutation
X-linked dominant - Correct answerDominant trait caused by mutation in X
chromosome
Expressed in heterozygous females and hemizygous males; more severe in males
Heterozygote advantage - Correct answerPossession 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
