This quiz explores genetic disorders and mutations, focusing on conditions like Duchenne muscular dystrophy, Klinefelter syndrome, and disorders linked to trinucleotide repeat expansions. It assesses understanding of genetic mechanisms, inheritance patterns, and clinical presentations relevant to learners in genetics and medical fields.
A CGG expansion that resulted in the disruption of the promoter of the dystrophin gene
Infidelity
A point mutation in the dystrophin gene
A recombination event in the dystrophin gene that gave rise to a frameshift mutation leading to an untranslatable mRNA
A translocation that resulted in the disruption of the dystrophin gene
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X
Y
13
18
21
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Expanded trinucleotide tandem repeat
Genomic imprinting
Large deletion in one gene
Single amino acid substitution
Translocation
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Father
Father's brother
Mother
Mother's brother
Sister
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Trisomy 18
Genomic imprinting
Robertsonian translocation
Trisomy 13
Expanded trinucleotide repeat
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Non maternity
Non paternity
Somatic mosaicism of III-2
Laboratory error in the testing of II-3
De Novo mutation in III-2
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Decreasing mRNA synthesis
Increasing mRNA synthesis
Creating splicing defect
Gain of function mutation
Dominant negative mutation
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0%
10%
50%
75%
100%
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Variable expressivity
New mutation
Somatic mosaicism
Non-penetrance
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The gene is located at the end of the short arm of the X and the Y chromosomes
Males and females are affected equally
The mutation involves expansion of a triplet repeat and anticipation occurs when transmitted by a male
The mutation involves expansion of a triplet repeat and anticipation occurs when transmitted by a female
The mutation exerts a gain of function effect
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The fact that disease-causing mutations in this gene involve expansions rather than contractions of a trinucleotide repeat.
The fact that there is a correlation between numbers of trinucleotide repeats in this gene and the age of onset of Huntington disease
The larger molecular weight protein coded by the mutant gene being inactive
The finding that a translocation involving a breakpoint in this gene does not lead to Huntington disease
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Too much FMR1 gene product is synthesized
The expansion causes a frameshift mutation, and the resulting gene product cannot function
The 5' untranslated region is hypermethylated when the repeats reach a certain size, leading to the loss of transcription of the gene.
Expansion of the trinucleotide repeats produces a toxic "gain of function" mutation
The expansion causes a nonsense mutation and the gene product is not produced
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Receptor
Transcription factor
Metabolic enzyme
Structural protein
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X-inactivation (Lyonization)
She has testicular feminization syndrome
She is 45,X
She is 47,XXX
She is 47,XXY
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Male children are more likely to have autosomal defects show up in their phenotypes
Female children are more likely to have autosomal defects show up in their phenotypes
Male children are more likely to have X-linked traits show up in their phenotype
Answer A and C are correct
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Deletion
Inversion
Nondisjunction
Segregation
Translocation
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Duchenne muscular dystrophy
Juvenile rheumatoid arthritis
Lumbosacral radiculopathy
Rhabdomyosarcoma
Spina bifida
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Down syndrome
Duchenne Muscular dystrophy
Myotonic Dystrophy
Huntinton disease
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100%
50%
25%
0%
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100%
50%
25%
6%
12.5%
0%
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Quiz Review Timeline (Updated): Mar 21, 2023 +
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