MMSC491 EXAM 2 LATEST
QUESTIONS AND
ANSWERS 2026 - 2027
Which of the following is a disease whose molecular basis is due to the
unstable expansion of CAG repeats encoding polyglutamine?
Hand-foot genital syndrome
Oculopharyngeal muscular dystrophy
Huntington disease
Synpolydactyly type II - ANSWERS-Huntington disease
Which of the following is a disease whose molecular basis is an unstable
expansion of short noncoding tandem repeats?
Kennedy disease
Huntington disease
Prader-Willi syndrome
Fragile X syndrome - ANSWERS-Fragile X syndrome
Which of the following is a disease whose molecular basis is caused by a
gene-pseudo gene sequence exchange?
Steroid 21-hydroxylase deficiency
Hemophilia A
END OF
PAGE
1
, MMSC491 EXAM 2 LATEST
QUESTIONS AND
ANSWERS 2026 - 2027
Sickle cell animia
Amyotrophic lateral sclerosis - ANSWERS-Steroid 21-hydroxylase
deficiency
What type of stain is traditionally used to visualize metaphase
chromosomes in preparing a karyotype?
Silver
Coomassie
Giemsa
Xylene cyanol - ANSWERS-Giemsa
Gain of function missense mutations in the RET gene which encodes a
tyrosine kinase protein result in ....
Hirschsprung's disease
Downs syndrome
Kliefelter syndrome
medullary thyroid carcinoma or multiple endocrine neoplasia -
ANSWERS-medullary thyroid carcinoma or multiple endocrine
neoplasia
END OF
PAGE
2
, MMSC491 EXAM 2 LATEST
QUESTIONS AND
ANSWERS 2026 - 2027
Which of the following nomenclature delineates a reciprocal
translocation?
45, X
46, XX,dup(1)(q22q25)
46,XX,t(2;6)(q35;p21.3)
46XY, inv(11)p11p15) - ANSWERS-46,XX,t(2;6)(q35;p21.3)
Which of the following autosomal trisomies are not compatible with
life?
13, 18, and 21
45X
46XXY
46XY+16 - ANSWERS-46XY+16
In cystic fibrosis, the p.Phe580del mutation leads to....
Abnormal regulation of gene expression.
END OF
PAGE
3
, MMSC491 EXAM 2 LATEST
QUESTIONS AND
ANSWERS 2026 - 2027
Aberant protein folding, leading to protein miss-folding and improper
cellular localizaiton.
Abnormal splicing.
Protein aggregation and cell lysis. - ANSWERS-Aberant protein folding,
leading to protein miss-folding and improper cellular localizaiton.
Concerning the efficacy of small molecule drugs, which, if any, of the
following statements is true?
At the level of clinical trials drugs can vary widely in how effective they
are.
Once a drug has received regulatory approval, we can be sure that it will
be effective in all patients, although some people will receive more
benefit from it than others.
Drugs used to treat psychiatric disorders are particularly effective.
Stains and beta blockers that were meant to reduce the risk of heart
disease are good examples of drugs that are largely ineffective. -
ANSWERS-At the level of clinical trials drugs can vary widely in how
effective they are.
END OF
PAGE
4
QUESTIONS AND
ANSWERS 2026 - 2027
Which of the following is a disease whose molecular basis is due to the
unstable expansion of CAG repeats encoding polyglutamine?
Hand-foot genital syndrome
Oculopharyngeal muscular dystrophy
Huntington disease
Synpolydactyly type II - ANSWERS-Huntington disease
Which of the following is a disease whose molecular basis is an unstable
expansion of short noncoding tandem repeats?
Kennedy disease
Huntington disease
Prader-Willi syndrome
Fragile X syndrome - ANSWERS-Fragile X syndrome
Which of the following is a disease whose molecular basis is caused by a
gene-pseudo gene sequence exchange?
Steroid 21-hydroxylase deficiency
Hemophilia A
END OF
PAGE
1
, MMSC491 EXAM 2 LATEST
QUESTIONS AND
ANSWERS 2026 - 2027
Sickle cell animia
Amyotrophic lateral sclerosis - ANSWERS-Steroid 21-hydroxylase
deficiency
What type of stain is traditionally used to visualize metaphase
chromosomes in preparing a karyotype?
Silver
Coomassie
Giemsa
Xylene cyanol - ANSWERS-Giemsa
Gain of function missense mutations in the RET gene which encodes a
tyrosine kinase protein result in ....
Hirschsprung's disease
Downs syndrome
Kliefelter syndrome
medullary thyroid carcinoma or multiple endocrine neoplasia -
ANSWERS-medullary thyroid carcinoma or multiple endocrine
neoplasia
END OF
PAGE
2
, MMSC491 EXAM 2 LATEST
QUESTIONS AND
ANSWERS 2026 - 2027
Which of the following nomenclature delineates a reciprocal
translocation?
45, X
46, XX,dup(1)(q22q25)
46,XX,t(2;6)(q35;p21.3)
46XY, inv(11)p11p15) - ANSWERS-46,XX,t(2;6)(q35;p21.3)
Which of the following autosomal trisomies are not compatible with
life?
13, 18, and 21
45X
46XXY
46XY+16 - ANSWERS-46XY+16
In cystic fibrosis, the p.Phe580del mutation leads to....
Abnormal regulation of gene expression.
END OF
PAGE
3
, MMSC491 EXAM 2 LATEST
QUESTIONS AND
ANSWERS 2026 - 2027
Aberant protein folding, leading to protein miss-folding and improper
cellular localizaiton.
Abnormal splicing.
Protein aggregation and cell lysis. - ANSWERS-Aberant protein folding,
leading to protein miss-folding and improper cellular localizaiton.
Concerning the efficacy of small molecule drugs, which, if any, of the
following statements is true?
At the level of clinical trials drugs can vary widely in how effective they
are.
Once a drug has received regulatory approval, we can be sure that it will
be effective in all patients, although some people will receive more
benefit from it than others.
Drugs used to treat psychiatric disorders are particularly effective.
Stains and beta blockers that were meant to reduce the risk of heart
disease are good examples of drugs that are largely ineffective. -
ANSWERS-At the level of clinical trials drugs can vary widely in how
effective they are.
END OF
PAGE
4
