Podcast
Questions and Answers
Considering the complexities of X-linked recessive inheritance in hemophilia, what is the probability that a phenotypically normal female, whose father was a hemophiliac and whose mother was a known carrier, will have a hemophiliac son?
Considering the complexities of X-linked recessive inheritance in hemophilia, what is the probability that a phenotypically normal female, whose father was a hemophiliac and whose mother was a known carrier, will have a hemophiliac son?
- 50% (correct)
- 0%
- 75%
- 25%
In the context of Mendelian genetics, if a plant species exhibits incomplete dominance for flower color, where $C^RC^R$ yields red flowers, $C^WC^W$ yields white flowers, and $C^RC^W$ yields pink flowers, what phenotypic ratio would be expected in the $F_2$ generation of a cross between a true-breeding red-flowered plant and a true-breeding white-flowered plant?
In the context of Mendelian genetics, if a plant species exhibits incomplete dominance for flower color, where $C^RC^R$ yields red flowers, $C^WC^W$ yields white flowers, and $C^RC^W$ yields pink flowers, what phenotypic ratio would be expected in the $F_2$ generation of a cross between a true-breeding red-flowered plant and a true-breeding white-flowered plant?
- 3 red : 1 white
- 1 red : 1 pink : 2 white
- 1 red : 2 pink : 1 white (correct)
- All pink
Given Mendel's laws, particularly the law of independent assortment, if a plant is heterozygous for two genes ($AaBb$), where A and B are located on different chromosomes, what proportion of its gametes will contain the recessive alleles for both traits ($ab$)?
Given Mendel's laws, particularly the law of independent assortment, if a plant is heterozygous for two genes ($AaBb$), where A and B are located on different chromosomes, what proportion of its gametes will contain the recessive alleles for both traits ($ab$)?
- 1/2
- 1/16
- 1/8
- 1/4 (correct)
In a scenario where a plant exhibits co-dominance for petal color, with one allele coding for red pigment ($R$) and another coding for white pigment ($W$), resulting in plants with both red and white petals when heterozygous ($RW$), what would be the expected phenotypic ratio in the offspring of a cross between two heterozygous plants?
In a scenario where a plant exhibits co-dominance for petal color, with one allele coding for red pigment ($R$) and another coding for white pigment ($W$), resulting in plants with both red and white petals when heterozygous ($RW$), what would be the expected phenotypic ratio in the offspring of a cross between two heterozygous plants?
Considering the complexities of recombinant DNA technology, if a researcher aims to express a eukaryotic protein in E. coli, which of the following modifications to the eukaryotic gene sequence is most critical for successful translation and stability of the mRNA in the prokaryotic host?
Considering the complexities of recombinant DNA technology, if a researcher aims to express a eukaryotic protein in E. coli, which of the following modifications to the eukaryotic gene sequence is most critical for successful translation and stability of the mRNA in the prokaryotic host?
In the context of genetic engineering, if a researcher is designing a CRISPR-Cas9 system to knock out a specific gene in a mammalian cell line, what feature of the guide RNA (gRNA) is most critical for ensuring precise and specific targeting of the Cas9 nuclease to the intended genomic location?
In the context of genetic engineering, if a researcher is designing a CRISPR-Cas9 system to knock out a specific gene in a mammalian cell line, what feature of the guide RNA (gRNA) is most critical for ensuring precise and specific targeting of the Cas9 nuclease to the intended genomic location?
Given the application of PCR in genetic diagnostics, if a researcher is using allele-specific PCR to detect a single nucleotide polymorphism (SNP) associated with a genetic disease, what primer design strategy is most critical for differentiating between the two alleles?
Given the application of PCR in genetic diagnostics, if a researcher is using allele-specific PCR to detect a single nucleotide polymorphism (SNP) associated with a genetic disease, what primer design strategy is most critical for differentiating between the two alleles?
Considering the ethical implications of genetically modified organisms (GMOs), if a researcher is developing a pest-resistant crop using genetic engineering, what ecological risk is most directly associated with the widespread cultivation of this GMO, potentially leading to evolutionary consequences in the pest population?
Considering the ethical implications of genetically modified organisms (GMOs), if a researcher is developing a pest-resistant crop using genetic engineering, what ecological risk is most directly associated with the widespread cultivation of this GMO, potentially leading to evolutionary consequences in the pest population?
In the context of recombinant DNA technology, what is the most critical function of DNA ligase in the creation of a recombinant plasmid?
In the context of recombinant DNA technology, what is the most critical function of DNA ligase in the creation of a recombinant plasmid?
Considering the application of genetic engineering to modify farm animals for enhanced food quality, if a researcher engineers goats to express human lysozyme in their milk to inhibit bacterial growth, what potential unintended consequence should be most carefully evaluated to ensure the safety and ethical production of this modified milk?
Considering the application of genetic engineering to modify farm animals for enhanced food quality, if a researcher engineers goats to express human lysozyme in their milk to inhibit bacterial growth, what potential unintended consequence should be most carefully evaluated to ensure the safety and ethical production of this modified milk?
Given the principles of gene cloning, which of the following steps is absolutely essential to ensure that only cells containing the recombinant plasmid are selected for further study?
Given the principles of gene cloning, which of the following steps is absolutely essential to ensure that only cells containing the recombinant plasmid are selected for further study?
Considering the implications of bioinformatics in modern genetics, which of the following algorithms is most suitable for predicting the tertiary structure of a protein based solely on its amino acid sequence, accounting for factors such as energy minimization and known protein folding patterns?
Considering the implications of bioinformatics in modern genetics, which of the following algorithms is most suitable for predicting the tertiary structure of a protein based solely on its amino acid sequence, accounting for factors such as energy minimization and known protein folding patterns?
In the context of xenotransplantation, what is the most significant immunological barrier that must be overcome to prevent rejection of pig organs by the human immune system?
In the context of xenotransplantation, what is the most significant immunological barrier that must be overcome to prevent rejection of pig organs by the human immune system?
Considering the complexities of gene therapy, which of the following vectors is most suitable for achieving long-term, stable expression of a therapeutic gene in non-dividing cells, such as neurons, while minimizing the risk of insertional mutagenesis?
Considering the complexities of gene therapy, which of the following vectors is most suitable for achieving long-term, stable expression of a therapeutic gene in non-dividing cells, such as neurons, while minimizing the risk of insertional mutagenesis?
In metabolic engineering, if a researcher aims to enhance the production of a specific metabolite in a bacterial cell by manipulating enzyme activity, which of the following strategies would be most effective in preventing feedback inhibition by the end product?
In metabolic engineering, if a researcher aims to enhance the production of a specific metabolite in a bacterial cell by manipulating enzyme activity, which of the following strategies would be most effective in preventing feedback inhibition by the end product?
Considering the applications of synthetic biology, if a researcher aims to create a synthetic microbial consortium that can efficiently degrade a complex pollutant, what design principle is most critical for ensuring long-term stability and robustness of the consortium in a fluctuating environment?
Considering the applications of synthetic biology, if a researcher aims to create a synthetic microbial consortium that can efficiently degrade a complex pollutant, what design principle is most critical for ensuring long-term stability and robustness of the consortium in a fluctuating environment?
Given the current state of GMO crop production, what is the most significant factor driving the ongoing debate regarding mandatory labeling of foods containing genetically modified ingredients?
Given the current state of GMO crop production, what is the most significant factor driving the ongoing debate regarding mandatory labeling of foods containing genetically modified ingredients?
Regarding the ethical concerns surrounding CRISPR technology, which aspect poses the most significant challenge for regulating its use in human germline editing?
Regarding the ethical concerns surrounding CRISPR technology, which aspect poses the most significant challenge for regulating its use in human germline editing?
Considering the application of CRISPR-Cas systems beyond gene editing, how can catalytically inactive Cas9 (dCas9) be utilized to modulate gene expression without permanently altering the DNA sequence?
Considering the application of CRISPR-Cas systems beyond gene editing, how can catalytically inactive Cas9 (dCas9) be utilized to modulate gene expression without permanently altering the DNA sequence?
In the realm of synthetic biology, what is the most critical function of a 'chassis organism' when engineering a novel biological system?
In the realm of synthetic biology, what is the most critical function of a 'chassis organism' when engineering a novel biological system?
If a researcher aims to enhance the drought tolerance of a crop plant using genetic engineering, which of the following strategies would be most effective in improving the plant's ability to withstand water stress at the cellular level?
If a researcher aims to enhance the drought tolerance of a crop plant using genetic engineering, which of the following strategies would be most effective in improving the plant's ability to withstand water stress at the cellular level?
Given the complexity of inheritable traits, if a new disease is discovered whose expression appears to skip generations, displays different penetrance among individuals with the same genotype, and exhibits variable expressivity, what type of non-Mendelian inheritance pattern is most likely at play?
Given the complexity of inheritable traits, if a new disease is discovered whose expression appears to skip generations, displays different penetrance among individuals with the same genotype, and exhibits variable expressivity, what type of non-Mendelian inheritance pattern is most likely at play?
Considering the potential risks of horizontal gene transfer in genetic engineering, why are scientists concerned about the use of antibiotic resistance genes as selectable markers in genetically modified organisms (GMOs)?
Considering the potential risks of horizontal gene transfer in genetic engineering, why are scientists concerned about the use of antibiotic resistance genes as selectable markers in genetically modified organisms (GMOs)?
In the context of molecular diagnostics, if a researcher wants to simultaneously detect the expression levels of hundreds of genes in a tissue sample, what technology would be most appropriate?
In the context of molecular diagnostics, if a researcher wants to simultaneously detect the expression levels of hundreds of genes in a tissue sample, what technology would be most appropriate?
A researcher discovers a new gene in Arabidopsis thaliana that, when knocked out using CRISPR-Cas9, results in significantly increased resistance to a broad spectrum of fungal pathogens. However, these knockout plants also exhibit severely stunted growth and reduced seed production. Which of the following strategies would be most appropriate for decoupling the beneficial disease resistance from the detrimental growth effects?
A researcher discovers a new gene in Arabidopsis thaliana that, when knocked out using CRISPR-Cas9, results in significantly increased resistance to a broad spectrum of fungal pathogens. However, these knockout plants also exhibit severely stunted growth and reduced seed production. Which of the following strategies would be most appropriate for decoupling the beneficial disease resistance from the detrimental growth effects?
A population of wild-type fruit flies has a mutation rate of $10^{-5}$ mutations per gene per generation. A researcher screens 10,000 fruit flies and identifies 5 individuals with a new dominant mutation. What is the most reasonable estimate for the proportion of these mutations that arose spontaneously in this generation, as opposed to being inherited from previous generations?
A population of wild-type fruit flies has a mutation rate of $10^{-5}$ mutations per gene per generation. A researcher screens 10,000 fruit flies and identifies 5 individuals with a new dominant mutation. What is the most reasonable estimate for the proportion of these mutations that arose spontaneously in this generation, as opposed to being inherited from previous generations?
A researcher is studying a population of island lizards and finds that a particular scale pattern is determined by a single gene with two alleles, S and s. The researcher observes the following genotype frequencies: SS = 0.64, Ss = 0.32, ss = 0.04. Based on this information, what can be definitively concluded about this population?
A researcher is studying a population of island lizards and finds that a particular scale pattern is determined by a single gene with two alleles, S and s. The researcher observes the following genotype frequencies: SS = 0.64, Ss = 0.32, ss = 0.04. Based on this information, what can be definitively concluded about this population?
A geneticist is studying a novel disease in humans and observes that affected individuals consistently have a specific deletion on chromosome 7. However, the severity of the disease symptoms varies widely among affected individuals, with some showing only mild symptoms while others are severely affected. Furthermore, the age of onset also varies significantly. Which of the following mechanisms is most likely responsible for this variation in disease presentation, assuming the deletion is the primary cause?
A geneticist is studying a novel disease in humans and observes that affected individuals consistently have a specific deletion on chromosome 7. However, the severity of the disease symptoms varies widely among affected individuals, with some showing only mild symptoms while others are severely affected. Furthermore, the age of onset also varies significantly. Which of the following mechanisms is most likely responsible for this variation in disease presentation, assuming the deletion is the primary cause?
A synthetic biologist is designing a microbial system to produce a high-value pharmaceutical compound. The metabolic pathway involves multiple enzymatic steps, and the researcher has identified a rate-limiting enzyme that significantly restricts overall production. Which of the following strategies would be most effective in increasing the flux through the pathway and maximizing production of the target compound?
A synthetic biologist is designing a microbial system to produce a high-value pharmaceutical compound. The metabolic pathway involves multiple enzymatic steps, and the researcher has identified a rate-limiting enzyme that significantly restricts overall production. Which of the following strategies would be most effective in increasing the flux through the pathway and maximizing production of the target compound?
A researcher is studying a population of plants and observes that a particular trait shows a continuous range of phenotypes. She crosses two plants from opposite ends of the phenotypic range and finds that the F1 generation exhibits an intermediate phenotype. However, when the F1 generation is self-crossed, the F2 generation shows a wider range of phenotypes than the F1, and the extreme phenotypes from the original parental generation reappear. Which of the following inheritance patterns is most likely responsible for this observation?
A researcher is studying a population of plants and observes that a particular trait shows a continuous range of phenotypes. She crosses two plants from opposite ends of the phenotypic range and finds that the F1 generation exhibits an intermediate phenotype. However, when the F1 generation is self-crossed, the F2 generation shows a wider range of phenotypes than the F1, and the extreme phenotypes from the original parental generation reappear. Which of the following inheritance patterns is most likely responsible for this observation?
A researcher is using a genome-wide association study (GWAS) to identify genetic variants associated with a complex disease. After analyzing a large cohort of patients and controls, she identifies several SNPs that show a statistically significant association with the disease. However, when she attempts to replicate these findings in an independent cohort, the associations are much weaker and no longer statistically significant. Which of the following factors is most likely contributing to this lack of replication?
A researcher is using a genome-wide association study (GWAS) to identify genetic variants associated with a complex disease. After analyzing a large cohort of patients and controls, she identifies several SNPs that show a statistically significant association with the disease. However, when she attempts to replicate these findings in an independent cohort, the associations are much weaker and no longer statistically significant. Which of the following factors is most likely contributing to this lack of replication?
In the context of RNA-seq, what is the most important step to minimize bias when preparing samples for sequencing?
In the context of RNA-seq, what is the most important step to minimize bias when preparing samples for sequencing?
In the application of recombinant DNA, if a researcher aims to mass produce a eukaryotic protein in bacteria, what most important consideration should be taken?
In the application of recombinant DNA, if a researcher aims to mass produce a eukaryotic protein in bacteria, what most important consideration should be taken?
A researcher observes a novel genetic trait affecting the lifespan of a certain insect species. The trait exhibits the following characteristics: It appears more severe in later generations than in earlier ones. The age of onset of the trait gets progressively earlier in successive generations. The degree of severity of reduced lifespan varies among siblings who inherit the same genetic factor from their parents. Which of the following genetic phenomena is most likely responsible for the observed inheritance pattern?
A researcher observes a novel genetic trait affecting the lifespan of a certain insect species. The trait exhibits the following characteristics: It appears more severe in later generations than in earlier ones. The age of onset of the trait gets progressively earlier in successive generations. The degree of severity of reduced lifespan varies among siblings who inherit the same genetic factor from their parents. Which of the following genetic phenomena is most likely responsible for the observed inheritance pattern?
In designing a gene therapy protocol for a patient with a severe genetic disorder, which vector would you choose if you are trying to express a gene for short time, but must have a high capacity for the gene:
In designing a gene therapy protocol for a patient with a severe genetic disorder, which vector would you choose if you are trying to express a gene for short time, but must have a high capacity for the gene:
If a researcher wants to visualize the location of a protein in a cell, which of the following technologies would be most appropriate:
If a researcher wants to visualize the location of a protein in a cell, which of the following technologies would be most appropriate:
Which of the following is the first ever biologic product produced for humans by a genetically engineered animal?
Which of the following is the first ever biologic product produced for humans by a genetically engineered animal?
Flashcards
What is Hemophilia?
What is Hemophilia?
A rare genetic disorder where blood doesn't clot properly due to a deficiency of clotting factors.
What is Heredity?
What is Heredity?
The transfer of traits from parents to offspring through genes.
What is a Gene?
What is a Gene?
A genetic factor that helps determine a characteristic.
What is a Character/Characteristic?
What is a Character/Characteristic?
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What is an Allele?
What is an Allele?
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What is a Locus?
What is a Locus?
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What is a Genotype?
What is a Genotype?
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What is heterozygous?
What is heterozygous?
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What is homozygous?
What is homozygous?
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What is a Phenotype?
What is a Phenotype?
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Law of Independent Assortment
Law of Independent Assortment
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Law of Segregation
Law of Segregation
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What is a Phenotype?
What is a Phenotype?
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What is a Genotype?
What is a Genotype?
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Dominant Trait
Dominant Trait
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Parental Generation (P1)
Parental Generation (P1)
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1st Filial Generation (F1)
1st Filial Generation (F1)
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Genetic engineering definition
Genetic engineering definition
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Recombinant DNA
Recombinant DNA
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Genetic Engineering is...
Genetic Engineering is...
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Cutting with Restriction Enzymes
Cutting with Restriction Enzymes
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Insertion into Vector
Insertion into Vector
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Transformation into Host
Transformation into Host
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Gene Expression & Cloning
Gene Expression & Cloning
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Direct Protein Therapy
Direct Protein Therapy
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Gene Therapy
Gene Therapy
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What is Gene Cloning?
What is Gene Cloning?
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What is PCR?
What is PCR?
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What is CRISPR?
What is CRISPR?
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GMOs
GMOs
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Study Notes
Hemophilia
- A rare genetic disorder prevents proper blood clotting, stemming from clotting factor deficiencies
- This disorder has an X-linked recessive inheritance pattern
- Males are more susceptible due to possessing only one X chromosome
- Known as the "Royal disease" due to its prevalence among Queen Victoria's descendants in European royal families
Heredity
- Heredity is traits passed from parents to offspring through genes, the functional units of DNA
- Genetics is the study of heredity
Glossary
- Gene: A factor/region of DNA, determines a characteristic
- Allele: One or more forms of a gene
- Locus: Location on a chromosome where an allele sits
- Genotype: Possessed set of alleles in an individual
- Heterozygote: Individual with two different alleles at a locus
- Homozygote: Individual with two identical alleles at a locus
- Phenotype/Trait: Appearance or manifestation of a character
- Character/Characteristic: Attribute or feature
- Alleles are represented as letters; uppercase for dominant, lowercase for recessive (Aa)
Pea Plant Experiment (1856)
- Gregor Mendel crossed seven pairs of contrasting traits in pea plants (Pisum sativum)
- This showed how traits transfer from parent to offspring
- Earning him the title: Father of Classical Genetics
Mendel's Experiment: Monohybrid Cross
- Crossing two parents with a single differing characteristic allows 4 conclusions
- Conclusion 1: Traits are encoded by two genetic factors
- Conclusion 2: Alleles separate during gamete formation
- Conclusion 3: Alleles separate equally into gametes
- Conclusion 4: Alleles can be dominant or recessive
- Monohybrid Crosses reveal the Principle of Segregation and Dominance
Mendel's Experiment: Dihybrid Cross
- Mendel's second experiment crossed two pairs of contrasting traits
- Example traits: yellow, round vs green, wrinkled seeds, or Axial, purple vs terminal, white flowers
- Dihybrid Crosses demonstrated the Principle of Independent Assortment
- Inheritance laws predict offspring genotype and phenotype from parental alleles
- Three Laws of Inheritance
Three Laws of Inheritance
- Law of Segregation
- Law of Independent Assortment
- Law of Dominance
Law of Inheritence:
- Law of Segregation:
- Each individual has two alleles, one from each parent
- During gamete formation, alleles separate, with each gamete receiving one allele
- Example: A heterozygous (Aa) parent passes either "A" or "a" to offspring
- Law of Independent Assortment:
- Genes for different traits assort independently during gamete formation
- Example: AaBb x AaBb cross yields a 9:3:3:1 phenotypic ratio
- Law of dominance
- A dominant allele masks other allele when present
Phenotype
- Observable or physical characteristic of an organism's genotype
- Dominant traits need only one dominant allele to be expressed
- FF (homozygous dominant) and Ff (heterozygous) both express a purple flower (example)
- Recessive traits require two recessive alleles to be expressed
- ff (homozygous recessive) must occur for expression
Punnett Squares
- They visualize the different alleles by arranging one set in rows and another in columns
- They predict the genotype and phenotype of offspring based on parental alleles
Genotype
- An organism’s genetic makeup or unique DNA sequence
Genetic Engineering
- Artificially manipulating, modifying, and recombining DNA/nucleic acids in organisms/populations
- Commonly refers to recombinant DNA technology from microbial genetics
Recombinant DNA Technology
- Altering genetic material for enhanced traits
- Involves inserting DNA fragments from various sources to create new genetic combinations as rDNA
- This new DNA fragment contains a sequence inserted into an appropriate vector
- All changes affect protein synthesis, altering the organism's traits
Steps in Recombinant DNA (rDNA) Technology
- Isolate DNA - Extract target DNA and vector (e.g., plasmid)
- Cutting via Restriction Enzymes – Cuts DNA at specific sites, creates sticky or blunt ends
- Insertion into Vector – Ligate gene into vector to form recombinant DNA
- Transformation into Host - Introduce recombinant DNA into bacteria/yeast
- Selection & Screening – Identification transformed cells w/ markers
- Applications – gene therapy, medicine, agriculture (GMOs), research
- Bacteria produces desired proteins, which is then extracted, purified, and administered as a drug. Example: Recombinant insulin injected into diabetic patients.
Applications of Recombinant DNA Technology
- Gene Therapy: Transferring genes into human cells. Ex: using engineered viruses to carry the gene into human cells to treat genetic diseases like cystic fibrosis or sickle cell anemia
- Vaccines: Viral proteins are used in vaccines mRNA COVID-19 vaccines use recombinant DNA indirectly to have human cells make protective proteins
Genetically Modified Organisms (GMO's)
- They are made by inserting rDNA into plants/animals to introduce traits like pest resistance and/or improved nutrition
- GMOs are cultivated/bred to retain desirable traits
Genetic Engineering Methods:
- Gene cloning allows isolation/copying of a gene in vitro/vivo. Uses:
- Studying gene mutation
- Cloning animals to increase milk/meat production
- Isolate/copy for gene therapy
- Gene cloning involves four steps
- Isolation
- Ligation
- Transformation
- Selection The initial steps of gene cloning - isolating the gene, inserting into a vector, restriction enzyme digestion, or PCR amplification - completed in vitro
- Creation is introduced into a host organism - bacterium, yeast, or mammalian cells - where cloning replication occurs
- The Polymerase Chain Reaction (PCR) makes copies of genes/DNA in vitro.
PCR and uses
- Involves three steps
- Denaturing
- Annealing
- Extension Can be used in
- Genotyping
- Cloning
- Mutation Detection
- Forensics
- Paternity Testing
GMOs. - not always rDNA Technology
- CRISPR - gene editing that modifies DNA by cutting, removing, or replacing specific gene sequences
- Scientists use a guide gRNA (gRNA) that matches a specific DNA sequence in the genome
- gRNA directs Cas9 to the target site, the CAS9 then acts like molecular scissors
- The cell then repairs the DNA, which can lead to: knocking out/disabling
- Bacteria are the most common GMOs because their simple structure permits easy DNA manipulation
- GM Bacteria are used to produce plastic, produce fuel
GMO Timeline
- Creation of first genetically modified bacteria in 1973
- Creation of GM mice in 1974
- First commercial development of GMOs (insulin-producing bacteria): 1982
- Sells Genetically modified food in 1994
- Sells GMO's as pets in 2003
GMO crops production
- Bt-corn (Bacillus thuringiensis):
- The gene from the Bt bacteria is added so that the corn produces a protein; poisonous to insects but not humans
- Golden Rice and Bt eggplant
- To be insect/herbicide/drought resistant; freeze and disease resistant, have higher yields, grow faster, improve nutrition, last longer
Food Quality
- Farm animals modified to enhance food quality
Examples of Food Quality GMOs
- Pigs engineered to produce A12 fatty acid, increasing levels of omega-3
- Goats make human lysozyme in milk, this inhibits bacteria growth
- ATryn is anticoagulant from goats
- Fast-growing Salmon: This Salmon continues to produce growth hormones. (full-size fish in 18 months instead of 3 years)
Research Animals/Healthcare Biomedical Applications of Genetic Engineering
- Understanding of gene function & Modeling of human disease to understand disease mechanisms or to aid drug development
- Xenotransplantation:
- Transplant of cells
- Usually transplant Corneas liver/kidneys/blood
- Pigs are species of choice because of the anatomical similarities to humans.
GMO Concerns
- GMO unsafe to eat, harms environment, increases herbicides, harms farmer's health, drifts pollen, creates superweeds, ethical concerns
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