MOLECULAR DIAGNOSTICS 3RD EDITION
BUCKINGHAM TEST BANK STUDY GUIDE
QUESTIONS AND SOLUTIONS 2026
CORRECT ANSWERS GRADED A+
⩥ What is the difference between a mutation and a polymorphism?
Answer: mutations are reserved for rare changes in DNA like those
found in cancer. Polymorphisms are variants that occur in 1-2% of the
population and do not affect phenotype heavily
⩥ What are the three largest and smallest chromosomes? Answer:
largest: 1, 2 3
smallest: 22, Y, 19
⩥ What is an example of a balanced polymorphism? Answer: sickle cell
anemia
⩥ What is an example of a benign polymorphism? Answer: Blood Type
ABO, HLA-type
⩥ gene mutation Answer: a change in the base sequence of a gene
⩥ chromosome mutation Answer: change in chromosome structure
, ⩥ Genome mutations Answer: changes in chromosome number
⩥ Euploid Answer: an individual with the appropriate number of
chromosomes for their species
⩥ Aneuploid Answer: an individual with an error in chromosome
number; includes deletions and duplications of chromosome segments
⩥ Chromosome behavior is dependent on chromosome
_________________ and DNA _______________ Answer: structure
and sequence
⩥ position effect Answer: dependence of the expression of a gene on the
gene's location in the genome
⩥ Compaction Answer: winding of DNA into metaphase chromosomes
⩥ Histones Answer: Globular protein that assist in DNA packaging in
eukaryotes. Histones form octamers around which DNA is wound to
form a nucleosome. (H2a, H2b, H3, H4) X2
⩥ Nucleosome Answer: Bead-like structure in eukaryotic chromatin,
composed of a short length of DNA wrapped around 8 histone proteins
BUCKINGHAM TEST BANK STUDY GUIDE
QUESTIONS AND SOLUTIONS 2026
CORRECT ANSWERS GRADED A+
⩥ What is the difference between a mutation and a polymorphism?
Answer: mutations are reserved for rare changes in DNA like those
found in cancer. Polymorphisms are variants that occur in 1-2% of the
population and do not affect phenotype heavily
⩥ What are the three largest and smallest chromosomes? Answer:
largest: 1, 2 3
smallest: 22, Y, 19
⩥ What is an example of a balanced polymorphism? Answer: sickle cell
anemia
⩥ What is an example of a benign polymorphism? Answer: Blood Type
ABO, HLA-type
⩥ gene mutation Answer: a change in the base sequence of a gene
⩥ chromosome mutation Answer: change in chromosome structure
, ⩥ Genome mutations Answer: changes in chromosome number
⩥ Euploid Answer: an individual with the appropriate number of
chromosomes for their species
⩥ Aneuploid Answer: an individual with an error in chromosome
number; includes deletions and duplications of chromosome segments
⩥ Chromosome behavior is dependent on chromosome
_________________ and DNA _______________ Answer: structure
and sequence
⩥ position effect Answer: dependence of the expression of a gene on the
gene's location in the genome
⩥ Compaction Answer: winding of DNA into metaphase chromosomes
⩥ Histones Answer: Globular protein that assist in DNA packaging in
eukaryotes. Histones form octamers around which DNA is wound to
form a nucleosome. (H2a, H2b, H3, H4) X2
⩥ Nucleosome Answer: Bead-like structure in eukaryotic chromatin,
composed of a short length of DNA wrapped around 8 histone proteins
