Molecular Diagnostics

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What is Molecular Diagnostics?

The process of identifying a disease by studying environmental factors and lifestyle choices

The process of identifying a disease by studying symptoms and physical manifestations

The process of identifying a disease by studying molecules, such as proteins, DNA, and RNA, in a tissue or fluid (correct)

The process of identifying a disease by studying patient history and demographic information

How has Molecular Diagnostics revolutionized the field of medicine?

By reducing the need for accurate diagnosis through symptom-based treatment

By enabling immediate treatment without the need for diagnosis

By allowing rapid & accurate diagnosis of a wide range of diseases and conditions (correct)

By increasing the cost of diagnosis and treatment

How do Molecular Diagnostics tests contribute to reducing patient morbidity and mortality?

By prolonging unnecessary treatment

By increasing the use of inadequate treatment

By determining the most appropriate treatment (correct)

By focusing on palliative care rather than curative treatment

What was one of the key objectives of the Human Genome Project (HGP)?

To address the ethical, legal, and social issues that arise from genome research Signup and view all the answers

Molecular Diagnostics tests can be used for predicting the possibility of a disease, such as screening for inherited genetic conditions like breast and ovarian cancer, and cystic fibrosis. This application falls under which category?

Predictive Signup and view all the answers

Identifying a single gene disorder like sickle cell anemia using Molecular Diagnostics tests is categorized under which application?

Diagnostic Signup and view all the answers

Monitoring treatment effectiveness in conditions like cancer using Molecular Diagnostics tests falls under which category of application?

Therapeutic Signup and view all the answers

Using Molecular Diagnostics tests for determining the outcome of a disease, such as understanding how cancer will affect the patient and how it will respond to treatment, is categorized under which application?

Prognostic Signup and view all the answers

Match the following with their application in Molecular Diagnostics tests:

Diagnostic = Identity of a disease Prognostic = Outcome of a disease Therapeutic = Response of a disease to treatment Predictive = Possibility of a disease Signup and view all the answers

Which application category does using molecular diagnostic tests to predict the possibility of a disease, such as screening for inherited genetic conditions like breast and ovarian cancer, fall under?

Predictive Signup and view all the answers

What enzyme repairs the double-stranded break in DNA caused by restriction endonucleases?

DNA ligase Signup and view all the answers

What is the characteristic feature of restriction sites in DNA?

They are often palindromic Signup and view all the answers

What is the primary function of restriction endonucleases in DNA manipulation?

Recognize specific DNA sequences and cut the DNA at that site Signup and view all the answers

What is the primary function of a probe used in molecular diagnostics?

Identify a complementary sequence on a larger single-stranded DNA or RNA molecule Signup and view all the answers

In gel electrophoresis, why do shorter DNA molecules migrate more rapidly through the pores of a gel than longer molecules?

Shorter molecules have less resistance to the electric charge Signup and view all the answers

What is the purpose of hybridization in molecular diagnostics?

To detect specific DNA sequences Signup and view all the answers

What is the purpose of transferring DNA to a solid support sheet in molecular diagnostics?

To visualize specific sequences using a labeled probe Signup and view all the answers

What is the process called when DNA is transferred from a gel to a solid membrane?

Southern blotting Signup and view all the answers

Which technique is used for analyzing RNA instead of DNA?

Northern blotting Signup and view all the answers

What is the term for the process of determining the sequence of nucleotides in a DNA strand using ddNTP?

DNA sequencing Signup and view all the answers

Which technique is used when protein is analyzed?

Western blotting Signup and view all the answers

What technology is used for DNA and RNA sequencing and variant/mutation detection?

Next-generation sequencing (NGS) Signup and view all the answers

What is the primary advantage of using PCR for clinical or forensic testing procedures?

It requires only a very small sample of DNA as the starting material Signup and view all the answers

What is the primary application of ddPCR (Droplet Digital PCR) in molecular diagnostics?

Extremely sensitive detection of mutations with low allelic frequency Signup and view all the answers

What makes PCR the technique of choice for diagnosing many inherited diseases?

Its ability to rapidly produce large amounts of specific DNA segments Signup and view all the answers

What is the consequence of a point mutation occurring in a recognition site for a restriction enzyme in the context of RFLPs?

The enzyme will not cut at the right site of the DNA, resulting in larger or smaller restriction fragments. Signup and view all the answers

What is the primary function of probes used in the detection of polymorphisms caused by repetitive DNA?

To identify specific DNA sequences Signup and view all the answers

What does digestion with restriction enzymes that recognize sites flanking the VNTR region produce?

$DNA$ fragments containing VNTR loci with varying sizes Signup and view all the answers

What happens to restriction fragment sizes if a point mutation occurs in a recognition site for a restriction enzyme?

Fragment sizes become larger or smaller Signup and view all the answers

If Sara and Will both have the mutated allele in the β-globin gene, what is their status?

Affected Signup and view all the answers

What is the consequence of the mutation causing sickle cell anemia on the restriction fragment produced by MstII on the β-globin gene?

The restriction fragment becomes larger Signup and view all the answers

What is the status of Sara and Will if one of them is a carrier (heterozygous) for the mutated allele in the β-globin gene?

Carrier Signup and view all the answers

What is the clinical utility of enzyme assays?

All of the above Signup and view all the answers

What does elevated levels of an enzyme in serum indicate?

Tissue damage caused by a disease Signup and view all the answers

Which technique is used to investigate specific DNA sequences on chromosomes inside a cell without the need for DNA extraction?

FISH Signup and view all the answers

What is the primary purpose of Western Blot and ELISA techniques in Molecular Diagnostics?

To generate and detect highly specific antibodies for a particular protein Signup and view all the answers

Which technique is used to measure enzymatic activity of a protein in Molecular Diagnostics?

Enzyme Assay Signup and view all the answers

What is the primary application of CRISPR in the field of Biotechnology?

Gene editing for correcting genetic diseases Signup and view all the answers

What is the most promising answer to the problem of genetic diseases according to the text?

Gene therapy Signup and view all the answers

What was the first successful recombinant DNA vaccine produced for?

Hepatitis B virus Signup and view all the answers

Which vector was used in an aerosol spray for gene therapy in Cystic Fibrosis patients?

Adenoviral vectors Signup and view all the answers

What does gene therapy refer to?

Treatment by transfer of genetic materials into a patient to replace a deficient or non-functional gene Signup and view all the answers

What was delivered using adenoviral vectors in Cystic Fibrosis patients during gene therapy?

Normal copies of CFTR gene Signup and view all the answers

What are the two main components of the CRISPR-Cas9 system?

Cas9 enzyme and guide RNA Signup and view all the answers

What is the primary purpose of genetic counseling?

To investigate individuals and families affected by genetic disorders Signup and view all the answers

What is the current status of therapies using CRISPR-Cas9 for treating genetic diseases?

Therapies are in clinical trials but not yet approved by the FDA Signup and view all the answers

What is the consensus among scientists regarding the use of CRISPR-Cas9 for eugenics or enhancing desirable traits?

There are ethical dilemmas and agreement that it should be prohibited Signup and view all the answers

What does genomic medicine implementation consider necessary?

"Genetic counseling" for individuals affected by genetic disorders Signup and view all the answers

What is the primary function of CRISPR-Cas9 in gene editing?

Editing genes by precisely cutting DNA and utilizing natural repair processes Signup and view all the answers

What is the significance of CRISPR-Cas9 in treating human genetic diseases?

It has shown potential as a promising tool for treating human genetic diseases Signup and view all the answers

Why are there ethical dilemmas surrounding CRISPR-Cas9 technology?

Because it raises concerns about creating genetically modified humans or enhancing desirable traits Signup and view all the answers

A patient gets a blood test to check for sexually transmitted diseases. The blood sample is tested for various pathogens using enzyme-linked immunosorbent assay (ELISA). The test comes back positive for Treponema pallidum, the bacterium which causes syphilis. • How did the test detect syphilis in the patient?

b) It detected antibodies against Treponema pallidum. Signup and view all the answers

After an anthrax scare, a farmer gets a blood test done to check for infection. The blood is tested using polymerase chain reaction (PCR). The test comes back positive for the presence of anthrax-causing bacteria, Bacillus anthracis. Which of the following statements best explain what this diagnosis means?

c) The PCR detected bacterial DNA. Signup and view all the answers

A cancer patients was on targeted therapy, he developed an acquired resistance mutation with a very low allelic frequency. Which of the following techniques should be used for detecting this resistance mutation as early as possible

c) ddPCR Signup and view all the answers

A new oral insulin pill hits the market, but is soon found to be very ineffective compared to the standard method of injecting insulin. Which of the following statements could most likely explain why the pill was ineffective? Choose 1 answer:

c) Oral insulin gets degraded. Signup and view all the answers

Young children who suffer from adenosine deaminase (ADA) deficiency, an inherited condition that damages the immune system, can be treated with enzyme replacement therapy. Children undergoing this treatment receive weekly or biweekly injections of the ADA enzyme. Which of the following statements best explains why the treatment needs to be taken so frequently? Choose 1 answer

a) Enzyme levels drop within a few days, and so need to be regularly replaced. Signup and view all the answers

Scientists have developed gene editing technologies that can one day help permanently cure adenosine deaminase (ADA) deficiency. Which of the following could be one such example of a cure for ADA deficiency? Choose 1 answer

c) Adding the ADA gene into cells of developing embryos. Signup and view all the answers

Study Notes

Molecular Diagnostics is a process that identifies diseases by studying molecules like proteins, DNA, and RNA in body fluids or tissues.
Revolutionized medicine, allowing for rapid and accurate diagnosis of a wide range of diseases.
Tests are highly sensitive and specific, detecting small amounts of genetic material.
Can monitor diseases more accurately, determine most appropriate treatment, reduce unnecessary/inadequate treatment, and increase cost effectiveness.
Human Genome Project (1990-2006), a US government project, aimed to identify all human genes, determine DNA sequences, create databases, develop tools, and address ethical issues related to genome research.
Molecular Diagnostic tests have applications in identifying diseases (single gene disorders, chromosomal abnormalities, infectious diseases, etc.), predicting disease possibility, and screening for inherited genetic conditions.
DNA/RNA detection involves obtaining and copying DNA fragments, identifying specific sequences, and amplifying them for diagnosis.
Strategies for obtaining and copying DNA fragments include restriction fragments analysis, production of DNA from RNA, and chemical synthesis.
Identifying DNA sequences can be done using probes, gel electrophoresis, and detection of specific DNA sequences or DNA sequencing.
Amplifying DNA sequences can be done using cloning or Polymerase Chain Reaction (PCR).
Restriction Fragments Analysis uses restriction enzymes to identify DNA sequences, cut DNA at specific sites, and synthesize recombinant DNA.
A probe is a labeled, single-stranded polynucleotide used to identify complementary sequences on a larger single-stranded DNA molecule.
Gel Electrophoresis is a technique that separates macromolecules based on size, charge, and shape, with DNA migrating toward the positive electrode due to its negative phosphate groups.
Hybridization and detection of specific DNA sequences can be done using Southern, Northern, or Western blotting techniques.
DNA sequencing determines the sequence of nucleotides in a DNA strand using ddNTP.
Polymerase Chain Reaction (PCR) is a method for in vitro production of large amounts of specific DNA segments, particularly useful for clinical or forensic testing procedures.
Next-generation sequencing is a technology for DNA and RNA sequencing and variant/mutation detection, able to sequence thousands of genes in a short time.
Polymorphisms are DNA sequence variations among individuals, which can be detected using Restriction Fragment Length Polymorphisms (RFLPs) and Repetitive Sequences.
RFLPs result from point mutations in restriction enzyme recognition sites.
VNTRs are highly variable regions of human DNA containing a variable number of tandem repeats.

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Description

Explore the field of molecular diagnostics and genetic testing, which has revolutionized medicine by allowing rapid and accurate diagnosis of various diseases through the study of DNA, RNA, and proteins. Learn about techniques like DNA/RNA detection, DNA sequencing, PCR, and next-generation sequencing, as well as applications in disease identification, prediction, and genetic screening.