MEDICAL GENETICS 5TH JORDE TEST
BANK EXAM PAPER 2026 COMPLETE
QUESTIONS AND ANSWERS STUDY SET
⩥ List at least 3 characteristics of a human gene. Answer: 1) base pairs
(size)
2) location
3) phenotype
⩥ Describe how repetitive elements appear in the human genome.
Answer: Tandem repeats (unique sequence repeated at specific location)
and interspersed DNA (Alu family)
⩥ How are Alu elements dispersed? How can Alu elements cause
disease?. Answer: Alu elements are scattered throughout the genome and
increase in number by retro transposition.
Depending on where the Alu element is inserted, can result in altered
gene expression, disrupted reading frame, disrupted splicing, or
misalignment causing deletion/insertion.
⩥ Describe at least one feature of the U.S. healthcare system. Answer: a)
western medicine
b) divided into many specialties
,c) evidence based medicine
d) clinical reasoning
⩥ Explain concept of clinical reasoning. Answer: Cognitive process
necessary to evaluate and manage a patient's medical problems.
Analytical (system 2) - hypothesis testing, conscious and deliberate,
critical thinking. Unfamiliar.
Non-Analytical (system 1) - familiarity/pattern recognition, intuitive.
familiar.
⩥ List at least 1 peer-reviewed medical genetics journal. Answer: a)
nature genetics
b) genetics in medicine
c) american journal of human genetics
d) clinical gneetics
e) human molecular genetics
f) journal of medical genetics
⩥ What are three resources a provider might use toward evidence based
medicine?. Answer: a) review articles
b) original research
c) professional society guidelines
, ⩥ What are the 4 steps of hypothesis testing?. Answer: 1) cue acquisition
(collect information)
2) hypothesis generation (working diagnosis)
3) cue interpretation (diagnostic modification and refinement)
4 hypothesis evaluation (diagnostic verification)
⩥ What is a psuedogene?. Answer: A sequence highly similar to one or
more paralogous genes but is not functional - differs at key points.
⩥ What are 3 ways alleles at a locus can be expressed? (Think
proportion/amount of gene product). Answer: 1) balanced (equal
product)
2) imbalanced (one creates more product than the other)
3) monoallelic (only one is expressed)
⩥ What is aRME?. Answer: Autosomal random monallelic expression,
the event in which a cell will randomly choose one allele to express
⩥ What is heterochromatin?. Answer: condensed, transcriptionally
inactive, sterically inaccessible form of DNA
⩥ What is euchromatin?. Answer: less condensed, transcriptionally
active, sterically accessible form of DNA
BANK EXAM PAPER 2026 COMPLETE
QUESTIONS AND ANSWERS STUDY SET
⩥ List at least 3 characteristics of a human gene. Answer: 1) base pairs
(size)
2) location
3) phenotype
⩥ Describe how repetitive elements appear in the human genome.
Answer: Tandem repeats (unique sequence repeated at specific location)
and interspersed DNA (Alu family)
⩥ How are Alu elements dispersed? How can Alu elements cause
disease?. Answer: Alu elements are scattered throughout the genome and
increase in number by retro transposition.
Depending on where the Alu element is inserted, can result in altered
gene expression, disrupted reading frame, disrupted splicing, or
misalignment causing deletion/insertion.
⩥ Describe at least one feature of the U.S. healthcare system. Answer: a)
western medicine
b) divided into many specialties
,c) evidence based medicine
d) clinical reasoning
⩥ Explain concept of clinical reasoning. Answer: Cognitive process
necessary to evaluate and manage a patient's medical problems.
Analytical (system 2) - hypothesis testing, conscious and deliberate,
critical thinking. Unfamiliar.
Non-Analytical (system 1) - familiarity/pattern recognition, intuitive.
familiar.
⩥ List at least 1 peer-reviewed medical genetics journal. Answer: a)
nature genetics
b) genetics in medicine
c) american journal of human genetics
d) clinical gneetics
e) human molecular genetics
f) journal of medical genetics
⩥ What are three resources a provider might use toward evidence based
medicine?. Answer: a) review articles
b) original research
c) professional society guidelines
, ⩥ What are the 4 steps of hypothesis testing?. Answer: 1) cue acquisition
(collect information)
2) hypothesis generation (working diagnosis)
3) cue interpretation (diagnostic modification and refinement)
4 hypothesis evaluation (diagnostic verification)
⩥ What is a psuedogene?. Answer: A sequence highly similar to one or
more paralogous genes but is not functional - differs at key points.
⩥ What are 3 ways alleles at a locus can be expressed? (Think
proportion/amount of gene product). Answer: 1) balanced (equal
product)
2) imbalanced (one creates more product than the other)
3) monoallelic (only one is expressed)
⩥ What is aRME?. Answer: Autosomal random monallelic expression,
the event in which a cell will randomly choose one allele to express
⩥ What is heterochromatin?. Answer: condensed, transcriptionally
inactive, sterically inaccessible form of DNA
⩥ What is euchromatin?. Answer: less condensed, transcriptionally
active, sterically accessible form of DNA
