Genetics Chapter 4 Quiz

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Questions and Answers

A type of substitution in which no amino acids change is called

  • Silent (correct)
  • Nonsense
  • Missense
  • Deletion

ATT TGA GCC - Original ATT GAG CC - Mutated The example above is an example of a

  • All of the above
  • Deletion - Substitution (correct)
  • Insertion - Frameshift
  • Deletion - Frameshift

A baby boy was bring to a pediatrician because of a delay in development of motor skills. Karyotype analysis result verified that the boy contains karyotype XXY. What is the provisional diagnostic disease of this boy?

  • Klinefelter syndrome (correct)
  • Edwards' syndrome
  • Patau syndrome
  • Turner syndrome

Flashcards

Silent Mutation

A type of substitution where no amino acids change.

Insertion-Frameshift Mutation

A mutation involving adding bases that alters the reading frame.

Klinefelter Syndrome

A genetic condition in boys characterized by XXY karyotype.

Aneuploidy

An abnormal number of chromosomes in a cell.

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Trisomy 13

Also known as Patau syndrome, a type of aneuploidy involving three copies of chromosome 13.

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Point Mutation

A gene mutation caused by the substitution of one nucleotide for another.

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Mutations and Genetic Variability

Mutations are a significant source of genetic diversity in organisms.

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Somatic Mutations

Mutations that occur in non-gamete cells.

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Deletion Mutation

A mutation where one or more nucleotides are removed from the DNA sequence.

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Missense Mutation

A mutation that results in the substitution of one amino acid for another in the protein.

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Nonsense Mutation

A mutation that causes the protein to be truncated, leading to a shorter, nonfunctional protein.

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Trisomy 21

Also known as Down syndrome, a condition with three copies of chromosome 21.

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Frameshift Mutation

A mutation resulting from insertion or deletion that alters the reading frame of the genetic message.

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Edwards' Syndrome

Also known as Trisomy 18, a condition linked with three copies of chromosome 18.

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Turner Syndrome

A chromosomal disorder where females have one X chromosome (45,X).

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Patau Syndrome

Also known as Trisomy 13, it affects multiple systems in the body.

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Genetic Variability

The tendency of genetic characteristics to vary within a species.

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Gametes

Reproductive cells (sperm and eggs) that carry half the genetic information.

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Chromosomal Abnormalities

Any change in the normal structure or number of chromosomes.

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Study Notes

Question 10

  • A type of substitution in which no amino acids change is called a silent mutation.

Question 11

  • The example provided (ATT TGA GCC – Original, ATT GAG CC – Mutated) is an example of a deletion-substitution mutation. This is a point mutation that resulted in substitution.

Question 12

  • A baby boy with karyotype XXY has Klinefelter syndrome.

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