NSG 533 Pathophysiology Exam 2 Latest
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Phenotype expressed in those who only have one copy of gene mutation
Choose matching term
1 Gene Inversion 2 Autosomal dominant
3 Heterozygote advantage 4 Penetrance
Don't know?
Terms in this set (121)
, Study of inherited traits and variations; examination of
What is genetics? a particular/small group of gene(s);
focused/individual picture
Total genetic composition of organism/species;
What is genomics?
analysis of entire species genome; broad view
Basic unit of heredity that codes for specific protein
Gene
leading to a characteristic or function
One version of a gene at a given location along a
Allele
chromosome
Can be:
-disease causing mutations
Mutant alleles -polymorphism (alterations with normal gene
function)
-variant of unknown significance
Observable physical / biochemical characteristics of
Phenotype
gene expression; clinical presentation
-maintains robust population
Variability is a good
-homogeneity weakens d/t inability to adapt
reason because
-may leave it more vulnerable to others
Proportion of individuals with mutation who exhibit
clinical symptoms
Penetrance
Huntington's = 100% penetrance
Genetic relatedness between individuals descending
from at least one common ancestor
Consanguinity
Increases autosomal recessive diseases
Tendency for disorders in successive generations to
Anticipation present at an earlier age and/or with more severe
manifestations
Occurrence of two or more cell lines with different
Mosaicism
genetic or chromosomal constitutions
2024/2025 guide with complete
solution/Advanced Pharmacology Final Exam
Questions and Answers(100% Verified)
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Stretch your brain before your first study session
Learn 1 /7 Study with Learn
Phenotype expressed in those who only have one copy of gene mutation
Choose matching term
1 Gene Inversion 2 Autosomal dominant
3 Heterozygote advantage 4 Penetrance
Don't know?
Terms in this set (121)
, Study of inherited traits and variations; examination of
What is genetics? a particular/small group of gene(s);
focused/individual picture
Total genetic composition of organism/species;
What is genomics?
analysis of entire species genome; broad view
Basic unit of heredity that codes for specific protein
Gene
leading to a characteristic or function
One version of a gene at a given location along a
Allele
chromosome
Can be:
-disease causing mutations
Mutant alleles -polymorphism (alterations with normal gene
function)
-variant of unknown significance
Observable physical / biochemical characteristics of
Phenotype
gene expression; clinical presentation
-maintains robust population
Variability is a good
-homogeneity weakens d/t inability to adapt
reason because
-may leave it more vulnerable to others
Proportion of individuals with mutation who exhibit
clinical symptoms
Penetrance
Huntington's = 100% penetrance
Genetic relatedness between individuals descending
from at least one common ancestor
Consanguinity
Increases autosomal recessive diseases
Tendency for disorders in successive generations to
Anticipation present at an earlier age and/or with more severe
manifestations
Occurrence of two or more cell lines with different
Mosaicism
genetic or chromosomal constitutions
