NSG 533 Pathophysiology Exam 2
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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
Comprehensive Questions
(Frequently Tested) with Verified
Answers Graded A+
Professional Academic Assistance Services
Services Offered
• Proctored Exam Assistance
• Online Class Management (Full Course Support)
• Exam Preparation & Study Materials
• Assignments and Coursework Support
• Essay and Research Paper Writing
• Discussion Posts & Responses
• Editing and Proofreading
• Confidential Academic Consultation
Helping Students Achieve Academic Excellence
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
