Grade 12 Life Sciences Self-Study Guide

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Questions and Answers

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?

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.

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.

<p>Males have only one X chromosome, thus any recessive allele on that X chromosome will be expressed. Females have two X chromosomes, requiring two copies of the recessive allele for expression.</p> Signup and view all the answers

What are the potential benefits and risks associated with creating genetically modified organisms (GMOs) for agriculture?

<p>Benefits include increased crop yields, pest resistance, and enhanced nutritional content. Risks include potential ecological impacts, development of herbicide-resistant weeds, and concerns about human health.</p> Signup and view all the answers

Detail the ethical considerations surrounding the use of stem cells in research and therapeutic applications.

<p>Ethical considerations include the source of stem cells (particularly embryonic stem cells), potential for misuse, questions surrounding the moral status of embryos, and issues of equitable access to therapies.</p> Signup and view all the answers

Explain the role of mutations in both driving evolution and causing genetic disorders.

<p>Mutations introduce new genetic variations, providing the raw material for evolution. Harmful mutations can disrupt normal gene function, leading to genetic disorders.</p> Signup and view all the answers

Describe the limitations of using pedigree analysis to predict inheritance patterns in complex genetic traits.

<p>Pedigree analysis is limited by small sample sizes, incomplete family records, variable expressivity, and the influence of multiple genes and environmental factors on complex traits.</p> Signup and view all the answers

How do the principles of paternity testing apply genetic concepts to resolving parentage disputes?

<p>Paternity testing relies on comparing DNA profiles between a child, mother, and alleged father. The non-maternal alleles in the child must be present in the biological father.</p> Signup and view all the answers

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.

<p>Genetic drift causes random fluctuations in allele frequencies, with a greater impact in small populations. Natural selection favors advantageous alleles, potentially leading to fixation or elimination within populations.</p> Signup and view all the answers

How can advances in genetics provide both diagnostic and preventative treatment to genetic disorders?

<p>Genetic testing allows early identification of predispositions and can guide lifestyle choices/medical interventions. Gene therapy and gene editing holds promise for correcting or compensating for genetic mutations.</p> Signup and view all the answers

Explain the role of meiosis in maintaining genetic stability across generations, and how errors in this process can lead to genetic disorders.

<p>Meiosis reduces chromosome number to produce haploid gametes, ensuring diploidy is restored during fertilization. Errors like nondisjunction can result in aneuploidy and disorders like Down syndrome.</p> Signup and view all the answers

Outline some ethical challenges related to genetic privacy and the potential for genetic discrimination.

<p>Concerns about genetic privacy include unauthorized access to genetic information, potential misuse by employers/insurers, and the risk of discrimination based on genetic predispositions.</p> Signup and view all the answers

Compare and contrast gene therapy and gene editing. What challenges are associated with these methods for treating genetic diseases?

<p>Gene therapy introduces new genes, while gene editing alters existing ones. Challenges include delivery, off-target effects, immune responses, and ethical concerns about germline modification.</p> Signup and view all the answers

How can the study of genetics inform preventative strategies for multifactorial diseases, when multiple genes and factors are involved?

<p>Genome-wide association studies identifies genetic predispositions to diseases. This data, combined with lifestyle factors can help create personalized prevention plans and risk prediction models.</p> Signup and view all the answers

Describe how advancements in sequencing technologies have transformed the field of genetics, and what are the key implications for genetic research and medicine?

<p>Sequencing advances enable rapid, low-cost genome sequencing, facilitating gene discovery, personalized medicine, diagnostics, and improved understanding of genetic variation.</p> Signup and view all the answers

Explain how horizontal gene transfer contributes to genetic variation and evolution, especially in bacteria.

<p>Horizontal gene transfer allows genetic material transfer between organisms, accelerating adaptation. Mechanisms like conjugation, transduction, and transformation enable bacteria to acquire new traits.</p> Signup and view all the answers

What are the ethical implications of using CRISPR technology for germline editing in humans, and what regulatory considerations are necessary?

<p>Germline editing raises concerns about unintended consequences, off-target effects, and the potential for creating heritable changes. Regulation must balance innovation and ethical considerations to be safe and responsible.</p> Signup and view all the answers

Some genetic diseases involve multiple genes. Elaborate how gene interaction and epistasis complicate the prediction?

<p>Epistasis is the interaction of genes that involves masking gene expression, where one gene alters how another gene is expressed. Predictions become challenging due to the combination of many genes' effects.</p> Signup and view all the answers

In your own words, how has the genetic modification expanded possibilities in medicine?

<p>In medicine, we can treat formerly untreatable conditions due to genetic engineering. This has been seen in cancer drugs, insulin from synthetic origins, and prevention of inherited diseases.</p> Signup and view all the answers

Can you compare a typical Mendelian experiment with current GWAS (genome-wide association studies) on experimental approach, scalability, and output?

<p>Mendelian experients study a few traits in crosses in order to see phenotypes, while GWAS goes through the entire gemone to see how single-nucleotide variations cause predispositions. GWAS have high-throughput with advanced tools.</p> Signup and view all the answers

Let's say a mutation in non-coding DNA results in genetic disease. How is this possible?

<p>Mutations disrupt regulatory sequences and enhancers or silencers, ultimately impacting gene regulation. Splicing sites are impacted as well, which can cause disease.</p> Signup and view all the answers

If a population is in the Hardy-Weinberg equilibrium, how do outside forces alter this to result in adaptation?

<p>Selective pressures alter survival leading to specific traits dominating. Mutations introduce genetic variation, and non-random mating concentrates certain traits in the population.</p> Signup and view all the answers

How do genomic imprinting mechanisms allow for parent-specific gene expression patterns and impact inheritance?

<p>Genomic imprinting causes gene expression to be parent-specific, often from DNA methylation or histone alteration. Thus, a trait is only expressed from one.</p> Signup and view all the answers

Some human disease involve several genes and some environmental exposures. Given tools like GWAS, what considerations limit predicting individual disease given genetics?

<p>Epigenetic and environmental effects may be difficult to replicate due to complex interactions, so identifying one gene does not determine the entire phenotype.</p> Signup and view all the answers

How can mitochondrial DNA analysis allow us to trace human demographic history?

<p>Mitochondrial DNA is exclusively passes by the mother, tracking maternal lineage. Mutations here can also be used to see where different population groups diverged.</p> Signup and view all the answers

Delineate the ethical considerations pertinent to employing CRISPR-Cas9 technology for human germline editing, and how is it different than somatic cell editing?

<p>Human germline editing, where parents edit inheritable traits, raises the concerns of unintended consequences or misused traits. Somatic editing only impacts specific cells, so inheritance is not a concern.</p> Signup and view all the answers

How can our deeper understanding of genetics lead to more effective personalized medicine?

<p>We can use genetic information and sequencing data to see which diseases patients are predisposed to and also the probability of responding well to treatments.</p> Signup and view all the answers

What are some key strategies for communicating information from genetic testing to patients?

<p>You must give easy results and plain English language, while answering questions with emotional support. Must ensure privacy and confidentiality due to sensitive data.</p> Signup and view all the answers

Explain the importance of using proper notation in genetic crosses. Use an example with codominance.

<p>Notation helps show the relationships between genotypes and phenotypes. Traits for codominance shown using two different capital letters.</p> Signup and view all the answers

How does Biotechnology support the advancement medicine?

<p>Through the use of producing medication/resources cheaply. As well as the specific genes make crop yields/ food security.</p> Signup and view all the answers

How does a deeper understanding of cellular biology and genetics offer insights into both inherited disorders and environmentally influenced diseases?

<p>Understanding cellular biology helps understand how cellular functions are disrupted by gene mutations, thus knowing the disease's genetic inheritance.</p> Signup and view all the answers

How does genetic engineering assist with stem cell research?

<p>Genetic engineering allows genetic modification to enhance differentiation and control cell behavior. It also helps model diseases while controlling genetic mutations in stem cells.</p> Signup and view all the answers

How can scientists assess the validity of the investigation?

<p>Scientists can assess an investigation's validity by keeping all other factors constant/identifying the controlled variables. They can also determine by using the same field/greenhouse.</p> Signup and view all the answers

What is an advantage of cloning that can improve superior food supply and quality?

<p>Cloning allows the genetic diseases to be prevented leading to healthier life for future generations of the breed.</p> Signup and view all the answers

What is one thing an analysis of blood groups can determine for paternity?

<p>The blood groups of the mother, possible father and the child must be compared.</p> Signup and view all the answers

How do the study of a pedigree diagram help trace genetics?

<p>Learners should be able to interpret pedigree diagrams with or without a key, also the only sex linked disorders you will be required to know are Haemophilia, Colour-blindness.</p> Signup and view all the answers

How many alleles control the inheritance of blood groups?

<p>There are three alleles that control the inheritance of blood groups, A, B, and O.</p> Signup and view all the answers

Why could genetic modified organisms come across as immoral?

<p>The long-term effects of genetic engineering on the environment are not known so it could lead to health problems in the future, as well as that it is morally wrong to engage in genetic engineering since it is interfering with nature.</p> Signup and view all the answers

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?

<p>If both the red and white colours are equally dominant, then the offspring in the F, generation will be red and white in colour.</p> Signup and view all the answers

Flashcards

Albinism

The condition resulting from the absence of skin pigmentation.

Alleles

Two or more versions/forms of a gene located at the same position on a chromosome.

Autosome

Any chromosome that is not a sex chromosome.

Biotechnology

The use of biological processes, organisms, or systems to improve human life quality.

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Clone

A copy of an organism that is genetically identical to the original organism.

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Cloning

The process by which genetically identical organisms are formed using biotechnology.

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Co-dominance

Both alleles of a gene are equally dominant, both expressing themselves in the phenotype in the heterozygous condition.

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Complete dominance

One allele is dominant and the other recessive, masking the recessive in the heterozygous condition.

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Chromatin network

Long, tangled thread-like structure in the nucleus of an inactive cell, made of DNA.

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Chromosome

Thread-like structure of DNA that carries hereditary information in the form of genes.

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Dihybrid cross

A genetic cross involving two different characteristics e.g. shape and color of seeds.

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Dominant allele

An allele that masks the expression of the allele partner on the chromosome pair,

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Gene

A segment of DNA/a chromosome that codes for a particular characteristic.

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Gene mutation

A change in the sequence of nitrogenous bases/nucleotides in a gene.

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Genetic variation

A variety of different genes that may differ from maternal and paternal genes, resulting in new genotypes and phenotypes.

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Genotype

The genetic composition of an organism.

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Genome

The complete set of chromosomes in the cell of an organism.

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Gonosome

The pair of chromosomes responsible for sex determination.

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Haemophilia

Sex-linked genetic disorder with absence of a blood-clotting factor.

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Heterozygous

Two different alleles controlling one trait.

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Homozygous

Two identical alleles controlling one trait.

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Incomplete dominance

Neither allele is dominant, resulting in an intermediate phenotype in the heterozygous condition.

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Locus

The exact position or location of a gene on a chromosome.

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Mendel's Law of Dominance

When two homozygous organisms with contrasting characteristics are crossed,

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Mendel's Law of Independent Assortment

Genes for different traits assort independently during gamete formation.

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Mendel's Law of Segregation

Each gamete contains one allele of each gene.

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Monohybrid cross

Genetic cross involving one characteristic e.g. seed color.

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Mutation

A sudden change in the sequence/order of nitrogenous bases of a nucleic acid.

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Multiple alleles

More than two possible alleles for one gene locus, e.g., blood groups.

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Phenotype

The external, physical appearance of an organism determined by the genotype.

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Pedigree diagram

A diagram illustrating inheritance of genetic disorders over generations.

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Population

Group of organisms of the same species living in the same habitat.

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Recessive allele

An allele suppressed when paired with a dominant allele. Only expressed when homozygous.

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Stem cells/meristematic cells

Undifferentiated 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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