Tag Archives: genetics

The Hardy-Weinberg Principle of Allele Frequencies

895px-Hardy-Weinberg

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The Hardy-Weinberg Principle is a mathematical law that predicts allelic frequencies, making several assumptions:

  • Large population
  • Random mating
  • No immigration
  • No emigration
  • No natural selection

In nature, these assumptions are extremely unlikely to occur, but it is the deviation from the expected distribution of alleles (according to the HW Principle) that informs us about the action of these natural conditions.

Please complete Activity 13.2 (page 141) Looking at Allele Frequencies – Parts A and B.

Unit 4 Biology – AoS 1: Heredity

 

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This Area of Study includes key knowledge about genetics and heredity:

Cell reproduction:

  • binary fission in prokaryotes
  • the phases of the cell cycle in eukaryotes including DNA replication, the division of the nucleus (mitosis), and cytokinesis
  • the key events that result in the production of haploid sex cells from a diploid cell (meiosis), including recombination

Molecular genetics:

  • the nature of genomes, genes and the genetic code
  • gene expression: the genetic code and roles of RNA in transcription, RNA processing in eukaryotes, and translation
  • the concept of gene regulation (the switching on and off of genes by factors expressed by regulator genes and environmental factors)

DNA tools and techniques:

  • gel electrophoresis;
  • DNA amplification;
  • DNA sequencing;
  • making a recombinant plasmid;
  • bacterial transformations;
  • DNA profiling;
  • gene cloning;
  • and using plasmids as gene delivery systems

There are a good series of six, (less than) ten-minute videos on YouTube that cover these concepts:

  1. Gene Technology1 of 6 – Restriction enzymes and ligation
  2. Gene Technology 2 of 6 – DNA probes and amplification
  3. Gene Technology 3 of 6 – PCR and gel-electrophoresis
  4. Gene Technology 4 of 6 – DNA fingerprinting
  5. Gene Technology 5 of 6 – DNA sequencing
  6. Gene Technology 6 of 6 – Gene cloning

Inheritance:

  • the nature of chromosomes, alleles, genotype and phenotype
  • the causes of phenotypic variation: mutations; recombination of parental alleles in sexual reproduction; polygenes; and interactions of environmental factors with genes
  • continuous and discontinuous variation
  • patterns of inheritance involving the monohybrid cross: dominance; recessiveness; co-dominance; multiple alleles
  • dihybrid crosses as independent or linked
  • pedigree analysis: autosomal and sex-linked inheritance; use of the test cross.

Some resources to assist your revision of this topic:

Mutants can be beautiful!

 

Both these roses come from the same bush in my garden at home. The one on the left is how the rose normally looks, year after year. This year, on a single branch sprouting to the side, there are about six flowers that look striped, like the one on the right. This article, from the American Rose Society, describes how a genetic mutation can cause this change in pigments.

Stripes may also result from spontaneous or induced mutations. Mutations are sudden changes that occur at a very low frequency in a gene. Spontaneous mutations (popularly known as ‘sports’) alter the existing genes and their expression, resulting in stripes. Induced mutations by irradiation or chemical mutagens also lead to genetically-altered  pigmentation, and the result is stripes. Stripes may develop as a result of the transmission of genes responsible for stripes through hybridization. Viral infection that causes variegation in tulips may also cause stripes in roses. These infections could interfere with physiological functions of pigmentation, giving them a striped appearance.

It is possible that a mutation has occurred during mitosis somewhere at the base of the new branch and all the cells in the new branch carry the mutated gene, which is expressed as a striped phenotype. If this is the case, a cutting from this branch will also produce striped flowers. So, I will take a cutting and propagate this rose, to see if we can produce more of these beautiful mutants!

Human intervention in evolution

elephants

Humans have had an influence on evolutionary processes for much longer than you may have thought – we have tamed wolves and wild cats to become the many breeds of domestic dogs and cats that share our homes today and we have selected cattle, sheep, goats and pigs over many generations for food characteristics. Our main food crops such as rice, corn, wheat, as well as many fruit and vegetables, are very different to their wild ancestors.

Artificial selection, or selective breeding, is the process by which humans breed other animals and plants for particular traits; for example, increased size, fast muscle growth or sweeter taste. This can be a deliberate process, like when farmers choose to breed animals or plants with particular characteristics or it can be accidental. In Asia and Africa, over many centuries, bull elephants with particularly large tusks have been targeted as trophies and for their valuable ivory. As a consequence, individuals with large tusks produce fewer offspring and become less frequent in the population. (Read more about elephant evolution here and here).

In more recent times, due to greater understanding of genetic inheritance and modern gene technology, we have been able to identify specific genes that code for particular characteristics and create new breeds of organisms with beneficial traits – drought tolerance, increased productivity or improved storage life, for example.

Play the videos from ABC Splash “Genetic Engineering of Crops”

Some sites that may be useful for your research project:

Population genetics

cheetah-family

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Population genetics is the study of distributions and changes in allele frequency in a population, as the population is subject to the four main evolutionary processes:

  • Natural selection
  • Genetic Drift
  • Mutation
  • Gene flow (by migration or distribution of pollen and seeds)

Variation between individuals and species and polymorphism: In any normal population there is some variation between individuals – a box of apples may have individual apples that are slightly different sizes and shapes with slightly different colour variations, even when they come from the same tree. So, not all variation is caused by genetic differences. It may be environmental differences that result in the variation – for example, the amount of light, temperature or soil nutrients in the case of plants or the nutrition and experiences provided to animals. Some characteristics , such as height or wing length might show continuous variation, while other characteristics can be clearly separated into different categories (discontinuous variation). An example of discontinuous variation in humans might be the ability to roll one’s tongue – you can either do this or you can’t – there is no blending, or in-between characteristic. Polymorphism occurs when two or more clearly defined phenotypes are present in the population. A classic example is the light and dark coloured morphs of the peppered moth. The ABO blood grouping is an example in human populations.

Inherited variationsFrom our Unit 3, Area of Study 2 work, we understand that the DNA molecule, present in every cell of living organisms, codes for proteins that determine the phenotype of an organism. DNA is passed from one generation to the next through reproduction, which can occur asexually or sexually (with the production of gametes (meiosis) and fusion of sperm and egg). So, families of individuals tend to look more alike than non-related individuals due to these inherited characteristics. This was seen in our work with pedigree trees, showing how genetic diseases can be passed on through several generations.

Mutations – sources of variation: The source of these variations is genetic mutations – check pages 371-372 and 477-478 in your textbook “Nature of Biology”. Genetic mutations may be spontaneous or may be induced by exposure to mutagenic agents (X-rays and Gamma rays and some chemicals, such as benzene and mustard gas).

Gene pool, gene flow, genetic drift (by chance): The gene pool is the set of all genetic information in a population, while gene flow describes how genes leave and arrive in a population by death and emigration or births and immigration. Genetic drift is the change of gene frequencies due to random sampling.

Polygenes, polygenetic traits: Polygenes are non-allelic genes that together influence a phenotypic trait – often the precise loci of these genes is unknown to biologists. Examples of polygenetic traits in humans are height, weight and skin colour.

Mitochodrial DNA: Mitochondrial DNA is a single, circular strand of DNA found in the mitochondria of eukaryotic cells. In most species, mitochondrial DNA is inherited solely form the mother. In humans, mitochondrial DNA was the first significant part of the human genome to be sequenced.

Founder and bottleneck effects:The founder effect is the lost of genetic variation that occurs when a new population is established by a small group of individuals from a larger population. The people of Easter Island and Pitcairn Island show limited genetic variability (small gene pools) due to this effect. A similar effect is the bottleneck effect, when large numbers of a population are removed, leaving a small gene pool.  As a species, cheetahs have famously low levels of genetic variation. In fact, cheetahs are so closely related to each other that transplanted skin grafts do not evoke an immune response. This can probably be attributed to a population bottleneck they experienced around 10,000 years ago, barely avoiding extinction at the end of the last ice age. However, the situation has worsened in modern times. Habitat encroachment and poaching have further reduce cheetah numbers, consequently snuffing out even more genetic variation and leaving cheetahs even more vulnerable to extinction.

 

 

Mendel’s Peas

Learning Intention: Students will understand the significance of Gregor Mendel in the history of genetics and be able to use the following terms correctly: dominant, recessive, alleles, genotype, phenotype, homozygous, heterozygous, cross-pollination, self-pollination and F1 generation.

Success Criteria: Students will complete the following three activities and be able to describe what they have learned in a class discussion.

Gregor Mendel (1822-1884) was an Austrian monk who is known as the father of modern genetics due to his experimental work with plant hybridization. It was Mendel who first coined the terms “dominant” and “recessive” and he formulated generalizations that have become known as “Mendel’s Laws of Inheritance”. “Mendel’s Pea Genetics – Experiments that changed the world” is a twenty-five minute documentary that describes his life. Complete the following three activities:

 

Introduction to Genetics

genetics_Tagxedo

In this class you are going to create your own word cloud and mind map to show me what you already know about genetics. Go to the google doc at http://moourl.com/biology and add at least ten words that come to mind when you think of ‘genetics’. Copy and paste all the terms into Tagxedo and customise your word cloud. Download a copy and send it to me. Now you have two choices:

  1. Go to Bubbl.us and create a mindmap using the key terms from Chapter 9. Download and send a copy.
  2. Go to Quizlet and create a set of flashcards using the terms and definitions from Chapter 9. Send me a link to your work. The Quizlet below was created by Mr Flattery and can be used and adapted.

Week 8: Unit 4: Continuity and Change

Sky_spectral_karyotype

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Area of Study 1: Heredity

This area of study focuses on molecular genetics and the investigation not only of individual units of inheritance, but also of the genomes of individuals and species. Students investigate inheritance in asexually reproducing organisms and the mechanism and patterns of transmission of heritable traits in sexually reproducing organisms.

Students examine the process of meiosis in terms of inputs and outputs and, in accounting for variations in offspring, consider the interplay between genotype and environmental factors, the significance of mutations in DNA, and the relationship between alleles.

All prokaryotes reproduce asexually, without the formation and fusion of gametes. Many plants and fungi also reproduce asexually, meaning that they are genetically identical to their parent. Types of asexual reproduction include:

  • Binary fission (bacteria)
  • Budding (yeast)
  • Vegetative reproduction (strawberry runners, aloe)
  • Sporulation (fungi, algae, ferns)
  • Fragmentation (annelids, sea-stars)
  • Parthenogenesis (some lizards, sharks and stick-insects)

This week we will begin to study molecular genetics – the foundations of ‘who we are’, before environmental factors play a role. Half your DNA comes from your mother (eggs produced in the ovaries) and half from your father (sperm produced in the testes). This DNA contains genes and genes code for proteins, so the gametes (eggs and sperm) contain the genetic instructions that cross the generation gap, giving you the characteristics that you share with your biological parents.  The genetic instructions in an organism make up it’s genotype, which is expressed visually as the phenotype (physical, biochemical and physiological traits).

Humans have 23 pairs of chromosomes, often referred to as the diploid number or 2n=46. The image above is called a karyotype, used to assist with chromosomal analysis – is this one from a male or female? Chromosomes can be distinguished by their relative size, position of the centromere and the patterns of light an dark bands. Matching pairs are said to be homologous. A human male has non-homologous sex chromosomes (XY).

More Resources for this Unit: