Medical Genetics Multiple choice questions

1. A nonsense mutation is…

a) the creation of a different amino acid

b) the creation of a stop codon

c) a regulatory sequence

d) an AG splice acceptor site

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2. Recombination occurs in meiosis is called…

a) Metaphase II

b) Prophase I

c) Metaphase II

d) Prophase I

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3. Conditions show anticipation in paternal transmission is…

a) Cystic fibrosis

b) Fragile X syndrome

c) Huntington disease

d) Marfan syndrome

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4. Exon skipping is…

a) silent mutations

b) RNA processing mutations

c) nonsense mutations

d) regulatory mutations

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5. Cystic fibrosis mutation consists of…

a) a insertion

b) a substitution

c) a deletion

d) a duplication

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6. Abnormality in the child with untreated phenylketonuria is the risk of…

a) 100%

b) 10%

c) 25%

d) 1%

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7. Recombinant alpha-iduronidase is used for…

a) Pompe disease

b) Fabry disease

c) Gaucher disease

d) Hurler syndrome

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8. Cancer cells…

a) avoidance of cell death

b) unlimited number of cell divisions

c) growth without external signals

d) none of these

e) all of these

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9. Repeating units of nucleic acids is

a) bases

b) sugar molecules

c) phosphate molecules

d) nucleotides

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10. The presence of an extra digit is…

a) clinodactyly

b) polydactyly

c) arachnodactyly

d) brachydactyly

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11. DNA requires…

a) Many enzymes

b) Sunlight

c) Protein synthase

d) Meiotic division

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12. The nucleosome is…

a) Composed of RNA

b) Composed of DNA and RNA

c) Found in nucleus

d) Found in cell way

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