Podcast
Questions and Answers
What is the primary purpose of identifying affected newborns quickly?
What is the primary purpose of identifying affected newborns quickly?
- To conduct genetic testing for research
- To provide quick treatment and care (correct)
- To prepare DNA samples for analysis
- To perform gene therapy immediately
What happens during the denaturation step of PCR?
What happens during the denaturation step of PCR?
- DNA strands separate due to the breaking of hydrogen bonds (correct)
- Heat causes the DNA to break into smaller fragments
- DNA strands are synthesized into new copies
- Primers are added to the reaction mixture
Which component is primarily responsible for adding dNTPs during the extension phase of PCR?
Which component is primarily responsible for adding dNTPs during the extension phase of PCR?
- PCR bead
- Primers
- Taq polymerase enzyme (correct)
- Buffer solution
How is the number of copies of DNA calculated after 'n' cycles in PCR?
How is the number of copies of DNA calculated after 'n' cycles in PCR?
In gel electrophoresis, DNA fragments are separated based on what characteristic?
In gel electrophoresis, DNA fragments are separated based on what characteristic?
Single nucleotide polymorphisms (SNPs) can lead to variations in traits when they occur in which type of regions?
Single nucleotide polymorphisms (SNPs) can lead to variations in traits when they occur in which type of regions?
Which of the following diseases can be identified using gel electrophoresis?
Which of the following diseases can be identified using gel electrophoresis?
What is the role of restriction enzymes in the gel electrophoresis process?
What is the role of restriction enzymes in the gel electrophoresis process?
Flashcards
PCR (Polymerase Chain Reaction)
PCR (Polymerase Chain Reaction)
A laboratory technique used to create millions of copies of a specific DNA sequence, enabling efficient genetic analysis.
Denaturation
Denaturation
The first step of PCR where DNA strands are separated by heating, breaking the hydrogen bonds between them.
Annealing
Annealing
The second step of PCR where primers attach to specific DNA sequences, highlighting the region of interest.
Extension
Extension
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Thermal Cycler
Thermal Cycler
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Gel Electrophoresis
Gel Electrophoresis
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SNPs (Single Nucleotide Polymorphisms)
SNPs (Single Nucleotide Polymorphisms)
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Genetic Testing with Gel Electrophoresis
Genetic Testing with Gel Electrophoresis
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Study Notes
2.1 One Page Wonder
- Identify affected newborn quickly for quick treatment and care
- Abnormal chromosomes or multiple chromosome copies diagnosed
- Chromosomal disorders diagnosed
2.1.2 Copying Our Genes: Polymerase Chain Reaction (PCR)
- Step 1: Denaturation/Melt
- Heat to 92-96 degrees Fahrenheit
- Hydrogen bonds between DNA strands break
- DNA strands separate
- Step 2: Anneal
- Mixture cooled
- Primers bind to DNA strands
- Primers target specific DNA area of interest
- Step 3: Extension
- Temperature raised to 72 degrees
- Taq polymerase adds dNTPs to primers
- Synthesizes new complementary strand
PCR Machine: Thermal Cycler
- Chemical Components:
- DNA
- Buffer
- PCR Bead
- Taq Polymerase
- dNTPs
- Primers
- Number of Copies:
- Use equation y = 2x
- Calculate copies after specific cycles (e.g., 30 cycles: 230 = 1073741824 copies; 35 cycles: 235 = 3.4 x 1010 copies)
2.1.3 Gel Electrophoresis
-
Method to test organism genes by comparing DNA fragment sizes
-
DNA fragments separated based on size
-
Marker for genetic disorder in well 1
-
Patient's DNA in gel
-
Carrier or affected identified based on marker bands
-
Genotype determines phenotype (physical traits)
-
Process:
- Collect DNA sample with saline
- Centrifuge, supernatant removed
- More copies of DNA are darker bands on gel
- Restriction enzymes cut DNA at specific points
Single Nucleotide Polymorphisms (SNPs)
- 99.9% human DNA is the same
- SNPs are variations in a single nucleotide
- SNPs in non-coding regions may not affect you
- SNPs in important genes can cause trait variations or diseases
- Change in protein structure can result from SNP-related modifications
- SNPs can impact health positively or negatively
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