Podcast
Questions and Answers
How are triplet repeat expansion disorders diagnosed?
How are triplet repeat expansion disorders diagnosed?
Why does each triplet repeat expansion disorder need its own unique test for diagnosis?
Why does each triplet repeat expansion disorder need its own unique test for diagnosis?
How is a G-band karyotype prepared?
How is a G-band karyotype prepared?
What is FISH and how can it be used in diagnostic applications?
What is FISH and how can it be used in diagnostic applications?
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What are the differences between Metaphase FISH, Interphase FISH, and Chromosome painting?
What are the differences between Metaphase FISH, Interphase FISH, and Chromosome painting?
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What genomic approaches are used in the diagnosis of human disorders?
What genomic approaches are used in the diagnosis of human disorders?
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What is the strategy behind microarrays such as CGH Microarray, SNP Microarray, and cDNA Microarray?
What is the strategy behind microarrays such as CGH Microarray, SNP Microarray, and cDNA Microarray?
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How can PCR be used to obtain a diagnosis of a genetic disorder?
How can PCR be used to obtain a diagnosis of a genetic disorder?
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How is next generation sequencing being used in genomic applications?
How is next generation sequencing being used in genomic applications?
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What is the difference between whole genome sequencing (WGS), whole exome sequencing (WES), gene panels, and single targeted gene sequencing?
What is the difference between whole genome sequencing (WGS), whole exome sequencing (WES), gene panels, and single targeted gene sequencing?
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What types of mutations may be observed in the human genome and how are they categorized?
What types of mutations may be observed in the human genome and how are they categorized?
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What are the relative pros and cons of the genomic and genetic techniques described?
What are the relative pros and cons of the genomic and genetic techniques described?
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Study Notes
Genomics in Diagnosis
- Genomics significantly enhances the accuracy of medical diagnosis by utilizing DNA analysis techniques.
- Essential techniques covered include DNA isolation, PCR, DNA sequencing, gene chips, next-generation sequencing, chromosomal analysis, FISH, and genomic microarrays.
- The triplet repeat expansion disorders require unique diagnostic tests due to their distinct genetic mechanisms.
- G-band karyotyping involves staining chromosomes to identify structural abnormalities.
- FISH (Fluorescence In Situ Hybridization) can detect specific DNA sequences in chromosomes, aiding in diagnosing genetic disorders.
- Types of FISH methodologies include:
- Metaphase FISH: analyzes chromosomes in metaphase, providing clear separation.
- Interphase FISH: examines nuclei in interphase, useful for detecting subtle chromosomal abnormalities.
- Chromosome painting (SKY FISH): visualizes entire chromosomes using multiple fluorescent dyes.
- Microarray techniques vary in method and application:
- CGH Microarray: compares the patient's DNA to a reference genome to identify copy number variations.
- SNP Microarray: focuses on specific single nucleotide polymorphisms to identify genetic variations.
- cDNA Microarray: assesses gene expression levels by comparing mRNA transcripts.
Diagnostic Techniques and Applications
- PCR (Polymerase Chain Reaction) amplifies specific DNA sequences, enabling the diagnosis of genetic disorders.
- Next-generation sequencing (NGS) allows simultaneous sequencing of multiple DNA strands, revolutionizing genomics.
- Differences in sequencing techniques include:
- Whole Genome Sequencing (WGS): analyzes the entire DNA sequence, offering comprehensive insights.
- Whole Exome Sequencing (WES): focuses on exons, the coding regions of genes, which constitute approximately 1% of the genome but contain most mutations associated with diseases.
- Gene panels: test for a specific set of genes known to be associated with certain disorders.
- Single targeted gene sequencing: isolates and sequences a single gene of interest.
- Mutations in the human genome can be categorized by type, including point mutations, insertions, deletions, and structural variations.
- It's crucial to understand the pros and cons of genomic versus genetic techniques, including resolution limits and diagnostic capabilities.
- A strong grasp of genetic testing and techniques is vital for effective patient care and successful interpretation of diagnostic results.
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Description
Explore the use of genomics in diagnostic practices with this quiz based on Dr. Mary Maj's lecture. This session is a part of the Basic Principles of Medicine 1 course, focusing on foundational concepts in medical genomics. Test your understanding of how genomics can impact diagnoses in medical practice.
