Molecular Genetics Processes Quiz
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Questions and Answers

What is the term used to describe the situation where an individual inherits two copies of a chromosome from the same parent?

  • Uniparental disomy (correct)
  • Mitochondrial disorder
  • Trisomy
  • Multifactorial and polygenic inheritance

Which of the following is a characteristic of Beckwith-Wiedemann syndrome?

  • Macroglossia, microcephaly, and umbilical hernia (correct)
  • Maternal inheritance due to mitochondrial disorders
  • Maternal uniparental disomy of chromosome 7
  • Progressive ophthalmoplegia with onset at 18-20 years old

What is the main reason for the maternal inheritance pattern seen in mitochondrial disorders?

  • Mitochondrial disorders are caused by polygenic inheritance
  • Mitochondrial DNA is located on the sex chromosomes
  • Paternal mitochondria are destroyed after fertilization (correct)
  • Maternal mitochondria have higher mutation rates

Which of the following is a characteristic of multifactorial and polygenic inheritance?

<p>Involves an imbalance between genetic and environmental factors (C)</p> Signup and view all the answers

What is the approximate incidence of Beckwith-Wiedemann syndrome?

<p>1 in 13,700 live births (A)</p> Signup and view all the answers

What is the main characteristic of Kearns-Sayre syndrome?

<p>Progressive ophthalmoplegia with onset at 18-20 years old (D)</p> Signup and view all the answers

What type of mutation results in premature termination with loss of function or expression?

<p>Frameshift (D)</p> Signup and view all the answers

In the context of protein production, what does a nonsense mutation lead to?

<p>Premature stop codon (B)</p> Signup and view all the answers

What is the effect of a silent mutation on the protein product?

<p>No change in amino acid (C)</p> Signup and view all the answers

Which type of mutation results in an altered amino acid being produced?

<p>Missense (A)</p> Signup and view all the answers

What alteration does a frameshift mutation cause in the protein product?

<p>Stop codon production (A)</p> Signup and view all the answers

Which mutation leads to the production of a stop codon?

<p>Nonsense (D)</p> Signup and view all the answers

What is the main purpose of replacement therapies discussed in the text?

<p>To replace missing metabolic, enzyme, or organ functions (B)</p> Signup and view all the answers

Which of the following is an example of enzyme replacement therapy discussed in the text?

<p>Treatment for cystic fibrosis (C)</p> Signup and view all the answers

What is the connection between Dolly the Sheep and Dolly Parton mentioned in the additional information?

<p>The scientists named Dolly the Sheep after Dolly Parton because the DNA used came from mammary gland cells (A)</p> Signup and view all the answers

What is the purpose of the pedigree shown in the additional information?

<p>To analyze the pattern of inheritance of genetic diseases (D)</p> Signup and view all the answers

What type of chromosomal abnormalities are discussed in the text?

<p>Both numerical and structural abnormalities (D)</p> Signup and view all the answers

Which of the following is NOT mentioned as a type of replacement therapy in the text?

<p>Dietary manipulation (C)</p> Signup and view all the answers

Which of the following is a treatment for triplet repeat expansion disorders?

<p>Steroids to slow muscle strength decline (B)</p> Signup and view all the answers

What is the primary effect of triplet repeat expansion disorders?

<p>Neurological problems (C)</p> Signup and view all the answers

Which of the following is NOT a triplet repeat expansion disorder mentioned in the text?

<p>Cystic fibrosis (A)</p> Signup and view all the answers

What is the characteristic of triplet repeat expansion disorders mentioned in the text?

<p>They exhibit genetic anticipation (A)</p> Signup and view all the answers

What is the function of the enzyme glucose-6-phosphate dehydrogenase (G6PD)?

<p>Keeps glutathione reduced to prevent RBC oxidation (D)</p> Signup and view all the answers

What is the prevalence of G6PD deficiency among Filipinos?

<p>1 out of 52 (C)</p> Signup and view all the answers

What is the central tenet of molecular genetics?

<p>The information encoded in DNA is transcribed into mRNA for protein production. (D)</p> Signup and view all the answers

What is the correct order of the processes involved in protein production?

<p>Replication, Transcription, Translocation (A)</p> Signup and view all the answers

What process must the mRNA undergo before it is transported to the cytoplasm?

<p>Processing to become functional (D)</p> Signup and view all the answers

What is the purpose of the amino acid wheel?

<p>To illustrate the triplet codons for each amino acid (C)</p> Signup and view all the answers

What are the stop codons in the genetic code?

<p>UAA, UGA, UAG (B)</p> Signup and view all the answers

What can cause genetic variations in the process of producing proteins?

<p>Both substitution and deletion of nucleotides (B)</p> Signup and view all the answers

Flashcards

Uniparental disomy

Inheritance of two copies of a chromosome from the same parent.

Beckwith-Wiedemann syndrome

A condition characterized by an overgrowth of certain body parts, such as the tongue and organs.

Maternal inheritance

Inheritance pattern observed in mitochondrial disorders, where only the mother transmits the mutated mitochondria.

Multifactorial and polygenic inheritance

A type of inheritance influenced by both multiple genes and environmental factors.

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Beckwith-Wiedemann syndrome

A rare genetic disorder affecting 1 in 13,700 newborns, characterized by overgrowth of certain body parts.

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Kearns-Sayre syndrome

A mitochondrial disorder causing progressive weakness of eye muscles and other symptoms.

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Nonsense mutation

A mutation that introduces a premature stop codon, terminating protein synthesis.

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Missense mutation

A mutation that leads to a change in the amino acid sequence, potentially affecting protein function.

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Frameshift mutation

A mutation that shifts the reading frame of the gene, altering the amino acid sequence and potentially causing a premature stop codon.

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Silent mutation

A mutation that does not change the amino acid sequence, having no impact on the protein.

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Missense mutation

A mutation that results in an altered amino acid being produced.

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Nonsense mutation

A mutation that causes a premature stop codon to be introduced, leading to a truncated protein.

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Frameshift mutation

A mutation that causes the insertion or deletion of nucleotides, shifting the reading frame and resulting in a different amino acid sequence.

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Nonsense mutation

A mutation that introduces a premature stop codon, leading to a shorter and potentially non-functional protein.

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Replacement therapies

Therapies used to replace missing biological components, such as enzymes or organs.

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Enzyme replacement therapy

A treatment for cystic fibrosis involving the delivery of a missing enzyme.

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Dolly the Sheep

The famous cloned sheep, named after the famous country singer because the DNA used came from mammary gland cells.

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Pedigree analysis

A diagram showing the inheritance pattern of a genetic disease within a family.

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Chromosomal abnormalities

Alterations in the number or structure of chromosomes.

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Steroid therapy

Treatment for triplet repeat disorders that aims to slow down muscle weakness, but does not cure the underlying condition.

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Triplet repeat expansion disorders

A group of genetic disorders caused by an expansion of a three-nucleotide repeat.

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Genetic anticipation

The tendency of triplet repeat disorders to appear at an earlier age in each generation.

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Glucose-6-phosphate dehydrogenase (G6PD)

An enzyme that protects red blood cells against damage by reactive oxygen species.

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Central dogma

The central concept in molecular genetics, explaining how DNA information is used to produce proteins.

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Protein production pathway

The sequence of processes involved in protein synthesis, starting with DNA replication.

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mRNA processing

The modification of mRNA molecules before they are transported to the cytoplasm.

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Amino acid wheel

A tool that helps visualize the relationship between codons and amino acids.

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Stop codons

Codons that do not code for any amino acid but signal the termination of protein synthesis.

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Genetic variations

Changes in the DNA sequence that can alter the amino acid sequence of a protein.

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