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Questions and Answers
What is a primary step in the proteomics workflow?
What is a primary step in the proteomics workflow?
Which technique is NOT commonly used in transcriptomics?
Which technique is NOT commonly used in transcriptomics?
What is a key advantage of Next Generation Sequencing (NGS) compared to traditional methods?
What is a key advantage of Next Generation Sequencing (NGS) compared to traditional methods?
Which of the following describes a limitation of Next Generation Sequencing (NGS)?
Which of the following describes a limitation of Next Generation Sequencing (NGS)?
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In the human metabolome, how many metabolites are estimated to exist?
In the human metabolome, how many metabolites are estimated to exist?
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Which of the following best describes targeted therapy in gastric cancer?
Which of the following best describes targeted therapy in gastric cancer?
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What is the primary focus of medical biotechnology?
What is the primary focus of medical biotechnology?
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Which of the following organisms is NOT typically involved in biotechnological processes?
Which of the following organisms is NOT typically involved in biotechnological processes?
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What type of products are categorized as biopharmaceuticals?
What type of products are categorized as biopharmaceuticals?
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Which statement correctly describes small molecule targeted agents in cancer treatment?
Which statement correctly describes small molecule targeted agents in cancer treatment?
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What is the first step in the Sanger sequencing workflow?
What is the first step in the Sanger sequencing workflow?
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Which of the following is a major advantage of Next Generation Sequencing (NGS) over traditional Sanger sequencing?
Which of the following is a major advantage of Next Generation Sequencing (NGS) over traditional Sanger sequencing?
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What is one limitation of NGS?
What is one limitation of NGS?
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What technique is used for mRNA detection and quantitation in transcriptomics?
What technique is used for mRNA detection and quantitation in transcriptomics?
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In which portion of the workflow is capillary electrophoresis used in Sanger sequencing?
In which portion of the workflow is capillary electrophoresis used in Sanger sequencing?
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Which component is essential for the process of Real-time quantitative PCR (qPCR)?
Which component is essential for the process of Real-time quantitative PCR (qPCR)?
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What is a significant drawback of using NGS for genomic sequencing?
What is a significant drawback of using NGS for genomic sequencing?
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Which of the following describes an application of PCR in diagnostics?
Which of the following describes an application of PCR in diagnostics?
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What do proteomics and metabolomics primarily aim to analyze?
What do proteomics and metabolomics primarily aim to analyze?
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Which allelic variant is the most common cause of cystic fibrosis?
Which allelic variant is the most common cause of cystic fibrosis?
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Which processing step directly follows the isolation of mRNA in transcriptomics?
Which processing step directly follows the isolation of mRNA in transcriptomics?
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What is the resolution capacity of agarose gel electrophoresis for DNA separation?
What is the resolution capacity of agarose gel electrophoresis for DNA separation?
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Which gene is associated with Long chain 3-hydroxyacyl-Co-A dehydrogenase deficiency?
Which gene is associated with Long chain 3-hydroxyacyl-Co-A dehydrogenase deficiency?
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Which technique allows for deeper coverage of genomic regions of interest?
Which technique allows for deeper coverage of genomic regions of interest?
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What is the total estimated number of protein-coding genes in the human genome?
What is the total estimated number of protein-coding genes in the human genome?
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Which technique is primarily used for detection in the proteomics workflow?
Which technique is primarily used for detection in the proteomics workflow?
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In the context of personalized medicine, what does 'precision medicine' refer to?
In the context of personalized medicine, what does 'precision medicine' refer to?
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What is a primary method used for confirming a diagnosis in the case of Organic acids analysis?
What is a primary method used for confirming a diagnosis in the case of Organic acids analysis?
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Which processes are involved in the separation step of transcriptomics workflow?
Which processes are involved in the separation step of transcriptomics workflow?
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What is the primary issue caused by the pPHE508del allelic variant in cystic fibrosis?
What is the primary issue caused by the pPHE508del allelic variant in cystic fibrosis?
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Which treatment aims to correct the misprocessing of Phe508del CFTR in cystic fibrosis patients?
Which treatment aims to correct the misprocessing of Phe508del CFTR in cystic fibrosis patients?
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What role does Ivacaftor play in treating cystic fibrosis?
What role does Ivacaftor play in treating cystic fibrosis?
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Which gene alteration is commonly associated with somatic changes in cancer cells?
Which gene alteration is commonly associated with somatic changes in cancer cells?
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What is the expected effect of corrector molecules on the pPHE508del CFTR?
What is the expected effect of corrector molecules on the pPHE508del CFTR?
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What is a characteristic of therapeutic monoclonal antibodies used in targeted therapy?
What is a characteristic of therapeutic monoclonal antibodies used in targeted therapy?
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Which statement best describes the primary focus of medical biotechnology?
Which statement best describes the primary focus of medical biotechnology?
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Which group of organisms is NOT typically involved in biotechnological processes?
Which group of organisms is NOT typically involved in biotechnological processes?
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Which of the following is an example of a product categorized as a biopharmaceutical?
Which of the following is an example of a product categorized as a biopharmaceutical?
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What is the main purpose of small molecules in targeted therapy?
What is the main purpose of small molecules in targeted therapy?
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What distinguishes E.coli as a preferred microorganism for large-scale production of recombinant proteins?
What distinguishes E.coli as a preferred microorganism for large-scale production of recombinant proteins?
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What is a key step in the biosynthesis of proinsulin in pancreatic beta cells?
What is a key step in the biosynthesis of proinsulin in pancreatic beta cells?
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Which of the following is an example of a recombinant human insulin brand?
Which of the following is an example of a recombinant human insulin brand?
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What role do cellular endopeptidases play in the processing of proinsulin?
What role do cellular endopeptidases play in the processing of proinsulin?
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How is recombinant human insulin primarily produced?
How is recombinant human insulin primarily produced?
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Which of the following best describes the role of polymerase chain reaction (PCR)?
Which of the following best describes the role of polymerase chain reaction (PCR)?
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What is the primary purpose of gel electrophoresis?
What is the primary purpose of gel electrophoresis?
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Which technique allows for the direct analysis of allelic variants?
Which technique allows for the direct analysis of allelic variants?
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What clinical symptoms are associated with Long chain 3-hydroxyacyl-Co-A dehydrogenase deficiency?
What clinical symptoms are associated with Long chain 3-hydroxyacyl-Co-A dehydrogenase deficiency?
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What is a significant advantage of using Next Generation Sequencing (NGS) over traditional methods?
What is a significant advantage of using Next Generation Sequencing (NGS) over traditional methods?
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What is the key feature of quantitative PCR (qPCR)?
What is the key feature of quantitative PCR (qPCR)?
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Which of the following is true regarding Sanger sequencing?
Which of the following is true regarding Sanger sequencing?
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Which component is essential for PCR to function?
Which component is essential for PCR to function?
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What is a common limitation of Next Generation Sequencing (NGS)?
What is a common limitation of Next Generation Sequencing (NGS)?
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What is a primary focus of metabolomics?
What is a primary focus of metabolomics?
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Which allelic variant commonly causes cystic fibrosis?
Which allelic variant commonly causes cystic fibrosis?
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What notable feature distinguishes polyacrylamide gel electrophoresis from agarose gel electrophoresis?
What notable feature distinguishes polyacrylamide gel electrophoresis from agarose gel electrophoresis?
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Which step follows the isolation of DNA in the Restriction Fragment Length Polymorphism (RFLP) workflow?
Which step follows the isolation of DNA in the Restriction Fragment Length Polymorphism (RFLP) workflow?
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What is the function of reverse transcription PCR (RT-PCR)?
What is the function of reverse transcription PCR (RT-PCR)?
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Study Notes
Molecular Medicine
- Promotes understanding of normal body function and disease pathogenesis at cellular and molecular levels.
- Allows researchers and physicians to apply this knowledge for disease diagnosis, treatment, prognosis, and prevention.
In Vitro Methods in Diagnostics
- Omics is a method in diagnostics.
- Genomics: DNA analysis.
- Transcriptomics: mRNA analysis.
- Proteomics: Protein analysis.
- Metabolomics: Metabolite analysis (amino acids, organic acids, carbohydrates, etc.).
Genomics
- Polymerase Chain Reaction (PCR) is used for amplifying DNA regions.
- It's a widely used method in molecular biology.
Gel Electrophoresis
- Agarose gel electrophoresis uses agarose, a complex sugar derivative from seaweed, to separate DNA fragments based on size.
- Resolution ranges from 50 to 30,000 bp, dependent on agarose concentration.
- Polyacrylamide gel electrophoresis (PAGE) is used for higher resolution and shorter DNA fragments (5-500 bp).
PCR Applications
- Used in genetic research, medicine diagnostics, microbiology, mycology, parasitology, forensic science, and environmental science.
Diagnostics of Cystic Fibrosis (CF)
- Cystic fibrosis is caused by allelic variants in the CFTR gene.
- The most common variant is p.Phe508del, found in approximately 75% of patients.
- The p.Phe508del variant is a 3-nucleotide deletion.
Restriction Fragment Length Polymorphism (RFLP)
- Used to analyze allelic variants.
- Involves using restriction enzymes (DNA-cutting enzymes found in bacteria) to identify specific nucleotide sequences, with various restriction enzymes (AluI, HaeIII, BamHI, HindIII, EcoRI), each with distinct recognition sites.
- The recognition sites for different enzymes are given.
Diagnostics of LCHADD
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is caused by allelic variants in the HADHA gene (encoding a long-chain hydroxyacyl-CoA dehydrogenase enzyme).
- This enzyme is involved in the mitochondrial beta-oxidation of fatty acids.
- Common allelic variant: 1528G > C substitution, resulting in a Glu to Gln substitution at position 510, which affects the dehydrogenase activity.
Sanger Sequencing
- Developed by Fred Sanger, who received the Nobel Prize in 1980 for it.
- A DNA sequencing method to determine the DNA fragment sequence (up to 800-900 bp).
Next Generation Sequencing (NGS)
- A high-throughput alternative to Sanger sequencing.
- Facilitates gene and regulatory element discovery associated with diseases.
- Allows targeted gene panel sequencing for disease diagnosis and allelic variant identification.
- Provides deeper coverage of genomic regions of interest.
PCR Modifications
- Reverse Transcription PCR (RT-PCR) is a technique to detect and quantify mRNA.
Quantitative PCR (qPCR)
- Combines PCR amplification with detection in a single step.
- Fluorescent dyes label PCR products during cycling.
- Instruments measure fluorescent signal accumulation during the exponential phase of the reaction, providing real-time results.
Metabolomics and Proteomics
- Proteomics analysis involve protein isolation, separation (electrophoresis, liquid chromatography), detection (mass spectrometry), identification by database search, and differential protein concentration analysis.
- Metabolomics analysis involves extracting metabolites, separation using chromatography techniques (LC, GC), detection using mass spectrometry or NMR, and comparative differential metabolite concentration analysis,.
Personalized Medicine
- Tailoring medical treatment to individual patient characteristics.
- Improves disease classification and responsiveness to treatment.
Targeted Therapy in Gastric Cancer
- Allele variant analysis and targeted therapy.
- Monoclonal antibodies and small molecules are used to target specific antigens or enzymatic targets inside the cell.
- Several therapeutic agents are mentioned for their roles in different steps of cancer pathophysiology in the context of gastric cancer, with several targeted agents listed.
Biotechnology
- Uses living organisms or biological processes to develop useful agricultural, industrial, and medical products.
- Also known as red biotechnology in medicine.
- Many organisms, including bacteria, fungi, plants, insects, and mammals (such as CHO and BHK cells), are used for production-related processes.
- Recombinant DNA technology is used to produce human insulin using E. coli and Saccharomyces cerevisiae.
Human Insulin Biosynthesis and Production
- Human insulin is synthesized as preproinsulin in pancreatic beta cells
- Preproinsulin contains a signal peptide that directs it to the endoplasmic reticulum (ER).
- The signal peptide is cleaved, and the remaining proinsulin is folded in the ER with disulfide bonds.
- Proinsulin is further processed in the trans-Golgi network to become active insulin.
- E. coli is often used for large-scale recombinant protein production due to its ease of use, speed, and feasibility.
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Description
This quiz covers the fundamentals of molecular medicine, including the understanding of cellular functions, disease pathogenesis, and various diagnostic methods. Key topics include genomics, proteomics, and techniques like PCR and gel electrophoresis. Test your knowledge on how these techniques apply to disease diagnosis and treatment.
