Podcast
Questions and Answers
Explain how the Law of Segregation and the Law of Independent Assortment contribute to genetic diversity.
Explain how the Law of Segregation and the Law of Independent Assortment contribute to genetic diversity.
The Law of Segregation ensures each gamete receives only one allele per trait, while the Law of Independent Assortment allows for random combination of alleles from different traits.
How might environmental factors influence the expression of genetic traits, giving an example?
How might environmental factors influence the expression of genetic traits, giving an example?
Environmental factors can alter gene expression by affecting developmental pathways. For instance, temperature influences sex determination in some reptiles.
Describe how incomplete dominance differs from codominance, providing an example of each.
Describe how incomplete dominance differs from codominance, providing an example of each.
Incomplete dominance results in a blended phenotype (e.g., pink flowers from red and white parents), while codominance results in both alleles being equally expressed (e.g., AB blood type).
Explain why X-linked recessive disorders are more commonly observed in males than in females.
Explain why X-linked recessive disorders are more commonly observed in males than in females.
What are the potential benefits and risks associated with creating genetically modified organisms (GMOs) for agriculture?
What are the potential benefits and risks associated with creating genetically modified organisms (GMOs) for agriculture?
Detail the ethical considerations surrounding the use of stem cells in research and therapeutic applications.
Detail the ethical considerations surrounding the use of stem cells in research and therapeutic applications.
Explain the role of mutations in both driving evolution and causing genetic disorders.
Explain the role of mutations in both driving evolution and causing genetic disorders.
Describe the limitations of using pedigree analysis to predict inheritance patterns in complex genetic traits.
Describe the limitations of using pedigree analysis to predict inheritance patterns in complex genetic traits.
How do the principles of paternity testing apply genetic concepts to resolving parentage disputes?
How do the principles of paternity testing apply genetic concepts to resolving parentage disputes?
Considering the impact of genetic drift and natural selection, explain how allele frequencies in a small, isolated population might diverge significantly from those in a larger, more diverse population over time.
Considering the impact of genetic drift and natural selection, explain how allele frequencies in a small, isolated population might diverge significantly from those in a larger, more diverse population over time.
How can advances in genetics provide both diagnostic and preventative treatment to genetic disorders?
How can advances in genetics provide both diagnostic and preventative treatment to genetic disorders?
Explain the role of meiosis in maintaining genetic stability across generations, and how errors in this process can lead to genetic disorders.
Explain the role of meiosis in maintaining genetic stability across generations, and how errors in this process can lead to genetic disorders.
Outline some ethical challenges related to genetic privacy and the potential for genetic discrimination.
Outline some ethical challenges related to genetic privacy and the potential for genetic discrimination.
Compare and contrast gene therapy and gene editing. What challenges are associated with these methods for treating genetic diseases?
Compare and contrast gene therapy and gene editing. What challenges are associated with these methods for treating genetic diseases?
How can the study of genetics inform preventative strategies for multifactorial diseases, when multiple genes and factors are involved?
How can the study of genetics inform preventative strategies for multifactorial diseases, when multiple genes and factors are involved?
Describe how advancements in sequencing technologies have transformed the field of genetics, and what are the key implications for genetic research and medicine?
Describe how advancements in sequencing technologies have transformed the field of genetics, and what are the key implications for genetic research and medicine?
Explain how horizontal gene transfer contributes to genetic variation and evolution, especially in bacteria.
Explain how horizontal gene transfer contributes to genetic variation and evolution, especially in bacteria.
What are the ethical implications of using CRISPR technology for germline editing in humans, and what regulatory considerations are necessary?
What are the ethical implications of using CRISPR technology for germline editing in humans, and what regulatory considerations are necessary?
Some genetic diseases involve multiple genes. Elaborate how gene interaction and epistasis complicate the prediction?
Some genetic diseases involve multiple genes. Elaborate how gene interaction and epistasis complicate the prediction?
In your own words, how has the genetic modification expanded possibilities in medicine?
In your own words, how has the genetic modification expanded possibilities in medicine?
Can you compare a typical Mendelian experiment with current GWAS (genome-wide association studies) on experimental approach, scalability, and output?
Can you compare a typical Mendelian experiment with current GWAS (genome-wide association studies) on experimental approach, scalability, and output?
Let's say a mutation in non-coding DNA results in genetic disease. How is this possible?
Let's say a mutation in non-coding DNA results in genetic disease. How is this possible?
If a population is in the Hardy-Weinberg equilibrium, how do outside forces alter this to result in adaptation?
If a population is in the Hardy-Weinberg equilibrium, how do outside forces alter this to result in adaptation?
How do genomic imprinting mechanisms allow for parent-specific gene expression patterns and impact inheritance?
How do genomic imprinting mechanisms allow for parent-specific gene expression patterns and impact inheritance?
Some human disease involve several genes and some environmental exposures. Given tools like GWAS, what considerations limit predicting individual disease given genetics?
Some human disease involve several genes and some environmental exposures. Given tools like GWAS, what considerations limit predicting individual disease given genetics?
How can mitochondrial DNA analysis allow us to trace human demographic history?
How can mitochondrial DNA analysis allow us to trace human demographic history?
Delineate the ethical considerations pertinent to employing CRISPR-Cas9 technology for human germline editing, and how is it different than somatic cell editing?
Delineate the ethical considerations pertinent to employing CRISPR-Cas9 technology for human germline editing, and how is it different than somatic cell editing?
How can our deeper understanding of genetics lead to more effective personalized medicine?
How can our deeper understanding of genetics lead to more effective personalized medicine?
What are some key strategies for communicating information from genetic testing to patients?
What are some key strategies for communicating information from genetic testing to patients?
Explain the importance of using proper notation in genetic crosses. Use an example with codominance.
Explain the importance of using proper notation in genetic crosses. Use an example with codominance.
How does Biotechnology support the advancement medicine?
How does Biotechnology support the advancement medicine?
How does a deeper understanding of cellular biology and genetics offer insights into both inherited disorders and environmentally influenced diseases?
How does a deeper understanding of cellular biology and genetics offer insights into both inherited disorders and environmentally influenced diseases?
How does genetic engineering assist with stem cell research?
How does genetic engineering assist with stem cell research?
How can scientists assess the validity of the investigation?
How can scientists assess the validity of the investigation?
What is an advantage of cloning that can improve superior food supply and quality?
What is an advantage of cloning that can improve superior food supply and quality?
What is one thing an analysis of blood groups can determine for paternity?
What is one thing an analysis of blood groups can determine for paternity?
How do the study of a pedigree diagram help trace genetics?
How do the study of a pedigree diagram help trace genetics?
How many alleles control the inheritance of blood groups?
How many alleles control the inheritance of blood groups?
Why could genetic modified organisms come across as immoral?
Why could genetic modified organisms come across as immoral?
What does it mean for the phenotype if both the allele for red colour (R) and the allele for white colour (W) are equally dominant in cows?
What does it mean for the phenotype if both the allele for red colour (R) and the allele for white colour (W) are equally dominant in cows?
Flashcards
Albinism
Albinism
The condition resulting from the absence of skin pigmentation.
Alleles
Alleles
Two or more versions/forms of a gene located at the same position on a chromosome.
Autosome
Autosome
Any chromosome that is not a sex chromosome.
Biotechnology
Biotechnology
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Clone
Clone
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Cloning
Cloning
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Co-dominance
Co-dominance
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Complete dominance
Complete dominance
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Chromatin network
Chromatin network
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Chromosome
Chromosome
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Dihybrid cross
Dihybrid cross
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Dominant allele
Dominant allele
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Gene
Gene
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Gene mutation
Gene mutation
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Genetic variation
Genetic variation
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Genotype
Genotype
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Genome
Genome
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Gonosome
Gonosome
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Haemophilia
Haemophilia
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Heterozygous
Heterozygous
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Homozygous
Homozygous
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Incomplete dominance
Incomplete dominance
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Locus
Locus
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Mendel's Law of Dominance
Mendel's Law of Dominance
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Mendel's Law of Independent Assortment
Mendel's Law of Independent Assortment
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Mendel's Law of Segregation
Mendel's Law of Segregation
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Monohybrid cross
Monohybrid cross
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Mutation
Mutation
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Multiple alleles
Multiple alleles
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Phenotype
Phenotype
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Pedigree diagram
Pedigree diagram
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Population
Population
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Recessive allele
Recessive allele
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Stem cells/meristematic cells
Stem cells/meristematic cells
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Study Notes
Introduction to the Self-Study Guide
- The declaration of COVID-19 as a global pandemic disrupted teaching and learning in South African schools.
- Many learners experienced reduced class time due to phased-in approaches and rotational attendance.
- The Department of Basic Education (DBE) collaborated with subject specialists to develop this Self-Study Guide.
- The guide aims to address content gaps, strengthen subject knowledge, and promote independent learning.
- The guide covers critical Grade 12 topics and skills to provide a foundation for further study.
How to Use This Self-Study Guide
- There are five Self-Study Guides covering all Grade 12 topics: DNA; Code of Life and Meiosis, Reproduction in Vertebrates, Human Reproduction, Endocrine System and Homeostasis, Genetics and Inheritance, Responding to the Environment: Humans and Plants and Evolution: Natural Selection and Human Evolution.
- Use this guide with the Life Sciences Mind the Gap Study Guide.
- Study content from the DBE Grade 12 Textbook, DBE Examination Guidelines 2021, and Mind the Gap.
- It focuses on answering questions in examinations.
- It includes exam techniques and tips (in italics).
- There's guidance on approaching question types, including terminology, graphs, tables, diagrams, genetics crosses, pedigree diagrams, calculations, and scientific investigations.
- Typical examination questions and solutions are provided at the end.
Genetics and Inheritance
- Focuses on DNA replication, chromosomes, and meiosis.
- Resources include Textbooks, Study Guides, Diagnostic reports, MTG, Past NSC, SC & Provincial Question Papers.
Key Concepts
- Concepts of inheritance
- Mendel’s principles of inheritance
- Monohybrid crosses
- Dihybrid crosses
- Sex determination
- Sex-linked inheritance
- Blood groups
- Genetic lineages and pedigree diagrams
- Genetic engineering
- Paternity testing
Terminology
- Albinism: Absence of skin pigmentation.
- Alleles: Versions of a gene at the same locus on a chromosome.
- Autosome: Any non-sex chromosome.
- Biotechnology: Using biological processes to improve human life.
- Clone: Genetically identical copy of an organism.
- Cloning: Creating genetically identical organisms using biotechnology.
- Co-dominance: Both alleles equally dominant; both expressed in the phenotype.
- Complete dominance: One allele dominant; masks the recessive allele in heterozygotes.
- Chromatin network: Tangled DNA threads in an inactive cell's nucleus.
- Chromosome: DNA thread carrying hereditary information (genes).
- Dihybrid cross: Cross involving two characteristics (e.g., seed shape and color).
- Dominant allele: Masks expression of the other allele; seen in homozygous (TT) and heterozygous (Tt) states.
- Gene: DNA segment coding for a specific characteristic.
- Gene mutation: Change in the DNA sequence.
- Genetic variation: Variety of genes resulting in new genotypes and phenotypes.
- Genotype: Genetic composition (e.g., BB, Bb, bb).
- Genome: The complete set of chromosomes in a cell.
- Gonosome: Chromosome pair responsible for sex determination.
- Haemophilia: Sex-linked disorder due to lack of blood-clotting factors.
- Heterozygous: Two different alleles for a trait (on the same locus).
- Homozygous: Two identical alleles for a trait (on the same locus).
- Incomplete dominance: Neither allele dominant; intermediate phenotype in heterozygotes.
- Locus: Gene's exact position on a chromosome.
- Mendel’s Law of Dominance: In crosses of homozygous organisms, the F1 generation displays the dominant trait, with heterozygotes exhibiting the dominant phenotype.
- Mendel's Law of Independent Assortment: "Factors" controlling characteristics are separate and independently sorted.
- Mendel’s Law of Segregation: An organism possesses two "factors" that separate, so each gamete has one.
- Monohybrid cross: Cross involving one characteristic (e.g., seed color).
- Mutation: Sudden change in the DNA sequence.
- Multiple alleles: More than two possible alleles for a gene locus (e.g., blood groups).
- Phenotype: External, physical appearance determined by genotype.
- Pedigree diagram: Chart showing inheritance of genetic disorders over generations.
- Population: Group of organisms of the same species living in the same habitat.
- Recessive allele: Suppressed by a dominant allele; only expressed in homozygous recessives (tt).
- Stem cells/meristematic cells: Undifferentiated cells capable of developing into any cell type.
Notes/Exam Tips/Techniques
- Chromatin is a tangled DNA structure in an inactive cell, while a chromosome is a DNA structure that carries hereditary information
- Genes code for particular characteristics, while alleles are versions of genes.
- A dominant allele is one that masks the expression of another allele with phenotypic effects, while a recessive allele is one that is only expressed when the dominant allele is absent.
- Phenotype is the observable characteristics or traits of an organism, while genotype is the genetic makeup
- Homozygous refers to when the allele that controls a single trait are identical on the same locus, whereas heterozygous refers to when the allele are different.
Mendel’s Laws of Inheritance
- Law of Segregation: Each organism has two "factors" that separate during gamete formation.
- Law of Dominance: When crossing contrasting homozygous organisms, F1 offspring exhibit the dominant trait.
- Law of Independent Assortment: Factors sort independently during gamete formation.
Format of a Genetic Cross
- P1: Parental generation (phenotype and genotype).
- Meiosis: Gamete formation (alleles segregate).
- Fertilization: Fusion of gametes (offspring genotype).
- F1: First filial generation (phenotype).
- Use the Punnett square to determine fertilization outcomes.
Monohybrid Crosses
- Complete Dominance: One allele masks the other (e.g., green pod color dominant over yellow).
- Incomplete Dominance: Neither allele fully dominant; intermediate phenotype (e.g., pink flowers from red and white parents).
- Co-dominance: Both alleles equally expressed (e.g., red and white coat color in cattle).
Sex Determination
- Humans have 22 pairs of autosomes and 1 pair of sex chromosomes (gonosomes).
- Males are XY, females are XX.
Sex-Linked Inheritance
- Genetic disorders linked to genes on sex chromosomes.
- X chromosome carries more genes than Y, X-linked traits are more common.
- Males only have one X chromosome and express X-linked traits more, even if recessive.
- Haemophilia is caused by a defect on in genes located on the X chromosome.
Blood Groups
- Multiple alleles (IA, IB, i) determine blood type.
- Notation for alleles are written as IA; IB and i only
- Blood types are A, B, AB, and O.
- Follow the 1-2-3-4 Rule.
- Inheritance displays co-dominance and complete dominance.
Dihybrid Crosses
- Involve two pairs of alleles for two characteristics.
- Alleles move independently into gametes (Law of Independent Assortment).
Pedigree Diagrams/Genetic Lineages
- Trace inheritance over generations.
- Identify sex-linked disorders (Haemophilia and Colour-blindness).
- Mark homozygous recessive individuals first.
- Work upwards from the last generation.
Mutations
- It is a sudden change in genetic composition.
- A gene mutation a change in nitrogenous bases or nucleotides, while chromosomal mutation is a change to the number of Chromosomes.
Genetic Engineering
- Manipulates biological processes to meet needs.
- Synthetic insulin is produced by genetically engineering technology
- Involves manipulation of genetic material
- Production, pest control, increased crop yields, and increased shelf-life are benefits.
Geneticallly Modified Organisms (GMO's)
- It is when genetic engineering alters the genome of cells for medical, industrial or agricultural purposes
- It can result in more productive crops, or help make new drugs.
Paternity Testing
- Uses blood grouping and DNA profiles. Blood Grouping: Child receives an allele from the mother and father while DNA Profiles compare the band to the parents to see if there are matches.
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