NUR 5461 William Paterson University
Genetics
● know some definitions: recessive, dominate, phenotype, genotype, aneuploidy,
translocation, allele
GENETICS EXAM STUDY GUIDE —
CORE DEFINITIONS
1 Allele
Definition:
An alternative version of a gene at a specific location (locus) on a chromosome.
Key idea:
You inherit one allele from mom and one from dad.
Example:
● Eye color gene
○ Brown allele
○ Blue allele
Memory hook:
Alleles = different “flavors” of the same gene
2 Genotype
Definition:
The genetic makeup of an organism — the actual alleles you carry.
Example:
● AA
● Aa
● aa
Memory hook:
Geno = Genes you GOT
, 3 Phenotype: The observable characteristics produced by the genotype.
Includes:
● Physical traits
● Lab findings
● Disease expression
Example:
● Brown eyes
● Blue eyes
● Hemophilia symptoms
Memory hook:
Pheno = what you can SEE
4 Dominant
Definition:
An allele that is expressed even if only ONE copy is present.
Key rule:
● AA → expressed
● Aa → expressed
Exam phrase to recognize: “Only one copy needed”
Example:Autosomal dominant disorders, Familial retinoblastoma (predisposition)
Memory hook:
Dominant = loud gene, always heard
5 Recessive
Definition:
An allele that is expressed ONLY when TWO copies are present.
, Key rule:
● aa → expressed
● Aa → carrier, not affected
Exam phrase to recognize:
“Both alleles must be mutated”
Example:Autosomal recessive diseases, Tumor suppressor genes at the cellular level
Memory hook:
Recessive = shy gene, needs backup
6 Analogy (used in genetics teaching)
A comparison used to explain a complex genetic concept by relating it to something familiar.
Common exam analogies you’ve already used:
● Rb gene = brake pedal
● Cell cycle = traffic intersection
● Frameshift mutation = sentence missing a letter
Why professors use this:
To test conceptual understanding, not memorization.
7 Translocation
Definition:
A chromosomal abnormality where a segment of one chromosome breaks off and attaches to
another chromosome.
Important distinction:
● Not a point mutation
● Affects chromosome structure
Clinical relevance:
● Common in cancers
● Can activate oncogenes or disrupt tumor suppressors
Genetics
● know some definitions: recessive, dominate, phenotype, genotype, aneuploidy,
translocation, allele
GENETICS EXAM STUDY GUIDE —
CORE DEFINITIONS
1 Allele
Definition:
An alternative version of a gene at a specific location (locus) on a chromosome.
Key idea:
You inherit one allele from mom and one from dad.
Example:
● Eye color gene
○ Brown allele
○ Blue allele
Memory hook:
Alleles = different “flavors” of the same gene
2 Genotype
Definition:
The genetic makeup of an organism — the actual alleles you carry.
Example:
● AA
● Aa
● aa
Memory hook:
Geno = Genes you GOT
, 3 Phenotype: The observable characteristics produced by the genotype.
Includes:
● Physical traits
● Lab findings
● Disease expression
Example:
● Brown eyes
● Blue eyes
● Hemophilia symptoms
Memory hook:
Pheno = what you can SEE
4 Dominant
Definition:
An allele that is expressed even if only ONE copy is present.
Key rule:
● AA → expressed
● Aa → expressed
Exam phrase to recognize: “Only one copy needed”
Example:Autosomal dominant disorders, Familial retinoblastoma (predisposition)
Memory hook:
Dominant = loud gene, always heard
5 Recessive
Definition:
An allele that is expressed ONLY when TWO copies are present.
, Key rule:
● aa → expressed
● Aa → carrier, not affected
Exam phrase to recognize:
“Both alleles must be mutated”
Example:Autosomal recessive diseases, Tumor suppressor genes at the cellular level
Memory hook:
Recessive = shy gene, needs backup
6 Analogy (used in genetics teaching)
A comparison used to explain a complex genetic concept by relating it to something familiar.
Common exam analogies you’ve already used:
● Rb gene = brake pedal
● Cell cycle = traffic intersection
● Frameshift mutation = sentence missing a letter
Why professors use this:
To test conceptual understanding, not memorization.
7 Translocation
Definition:
A chromosomal abnormality where a segment of one chromosome breaks off and attaches to
another chromosome.
Important distinction:
● Not a point mutation
● Affects chromosome structure
Clinical relevance:
● Common in cancers
● Can activate oncogenes or disrupt tumor suppressors
