Basic DNA Concepts and Genetic Mutations
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Vocabulary flashcards covering key genetic concepts from the lecture notes.
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34 Terms
DNA location
Nucleus
Protein synthesis occurs in
Cytoplasm
Transcription
DNA → mRNA
Translation
mRNA → protein
Mutation
A change in the DNA sequence.
Silent mutation
A mutation that does not change the amino acid sequence.
Missense mutation
A mutation that changes one amino acid in a protein.
Nonsense mutation
A mutation that creates a premature stop codon.
Frameshift mutation
A mutation caused by insertion or deletion that alters the reading frame.
Aneuploidy
An abnormal number of chromosomes (extra or missing).
Trisomy
Presence of an extra chromosome (total of 47 chromosomes).
Monosomy
Loss of one chromosome (total of 45 chromosomes).
Down Syndrome
A genetic disorder caused by Trisomy 21.
Features of Down Syndrome
Low nasal bridge, protruding tongue, hypotonia, developmental delay, increased maternal age risk.
Autosomal Dominant
Only one mutated gene is needed for the trait to be expressed.
Example of Autosomal Dominant disorder
Huntington disease.
Autosomal Recessive
Two mutated genes are needed for the trait to be expressed.
Typical parents of Autosomal Recessive disorders
Usually carriers of the trait.
Example of Autosomal Recessive disorder
Cystic Fibrosis.
X-Linked Recessive
Condition more common in males because males have only one X chromosome.
Carrier mother in X-Linked Recessive
50% chance of having affected sons.
Example of X-Linked Recessive disorder
Hemophilia A.
Pedigree Basics
A chart showing the occurrence of phenotypes across generations.
Circles in pedigree charts
Represent females.
Squares in pedigree charts
Represent males.
Shaded symbols in pedigree charts
Indicate affected individuals.
Carrier females in pedigrees
Shown with a dot.
Assumption for rare conditions in pedigrees
Assume recessive inheritance.
Penetrance
The proportion of individuals with a specific genotype that expresses the phenotype.
Expressivity
The degree to which a genotype is expressed in an individual.
Example of a condition with variable expressivity
Phenylketonuria (PKU).
Genotype
The genetic constitution of an individual.
Phenotype
The observable characteristics of an individual.
Carrier
An individual who has one copy of a mutated gene but does not exhibit symptoms.
Note 
Flashcards (30)