SGU MSK ACTUAL EXAMINATION TEST
2026 QUESTIONS WITH ANSWERS
GRADED A+
>> Imprinting (parent of origin effects):
Answer: methylation of specific loci (epigenetic change) & silencing of gene
>> Anticipation:
Answer: individuals in recent generations of a pedigree develop disease at an earlier age & with greater
severity
>> Codominance:
Answer: ex- blood group types; in AB heterozygoes, both sugars are present on cell surface
>> Digenic disorders:
Answer: 2 mutant loci work together to produce an effect which is not seen without the other
>> Haplo-insufficiency:
Answer: half normal levels of the gene product result in phenotypic effects
>> Gain of function mutation:
Answer: increased levels of gene expression or the development of a new function of the gene product
>> Pleiotropy:
Answer: affects multiple organ systems
>> Dominant-negative:
Answer: mutant gene product interferes w the function of the normal gene product
>> Heteroplasmy:
Answer: ONLY USED IN MITOCHONDRIAL DISORDERS;
>> Mitochondrial disorders
Answer: Inheritance Pattern: Mitochondrial
>> Myoclonic epilepsy w ragged red fibers (MERRF)
Answer: Mitochondrial
>> Leber hereditary Optic Neuropathy
, Answer: Mitochondrial
>> MELAS
Answer: Mitochondrial
>> Autosomal dominant disorders
Answer: AD
>> Familial hypercholesterolemia
Answer: AD
>> Huntington disease
Answer: AD
>> Myotonic dystrophy
Answer: AD
>> Achondroplasia
Answer: AD
>> Neurofibromatosis - NF1
Answer: AD
>> Marfan syndrome
Answer: AD
>> Charcot-Marie-Tooth
Answer: AD (vertical inheritance), AR, X-linked
>> Osteogenesis imperfecta (type 1, 2, 3, 4)
Answer: AD
>> Acute intermittent porphyria
Answer: AD
>> Van der Woude
Answer: AD
>> Autosomal recessive disorders
Answer: AR
2026 QUESTIONS WITH ANSWERS
GRADED A+
>> Imprinting (parent of origin effects):
Answer: methylation of specific loci (epigenetic change) & silencing of gene
>> Anticipation:
Answer: individuals in recent generations of a pedigree develop disease at an earlier age & with greater
severity
>> Codominance:
Answer: ex- blood group types; in AB heterozygoes, both sugars are present on cell surface
>> Digenic disorders:
Answer: 2 mutant loci work together to produce an effect which is not seen without the other
>> Haplo-insufficiency:
Answer: half normal levels of the gene product result in phenotypic effects
>> Gain of function mutation:
Answer: increased levels of gene expression or the development of a new function of the gene product
>> Pleiotropy:
Answer: affects multiple organ systems
>> Dominant-negative:
Answer: mutant gene product interferes w the function of the normal gene product
>> Heteroplasmy:
Answer: ONLY USED IN MITOCHONDRIAL DISORDERS;
>> Mitochondrial disorders
Answer: Inheritance Pattern: Mitochondrial
>> Myoclonic epilepsy w ragged red fibers (MERRF)
Answer: Mitochondrial
>> Leber hereditary Optic Neuropathy
, Answer: Mitochondrial
>> MELAS
Answer: Mitochondrial
>> Autosomal dominant disorders
Answer: AD
>> Familial hypercholesterolemia
Answer: AD
>> Huntington disease
Answer: AD
>> Myotonic dystrophy
Answer: AD
>> Achondroplasia
Answer: AD
>> Neurofibromatosis - NF1
Answer: AD
>> Marfan syndrome
Answer: AD
>> Charcot-Marie-Tooth
Answer: AD (vertical inheritance), AR, X-linked
>> Osteogenesis imperfecta (type 1, 2, 3, 4)
Answer: AD
>> Acute intermittent porphyria
Answer: AD
>> Van der Woude
Answer: AD
>> Autosomal recessive disorders
Answer: AR
