edexcel a level biology cystic fibrosis

3.9 (i): Know that a locus is the location of genes on a chromosome Opportunities for developing mathematical skills within this topic include calculating areas of circumferences and areas of circles, surface areas and volumes of rectangular blocks and spheres, using ratios, fractions and percentages, plotting two variables from experimental or other data, determining the slope and intercepts of a linear graph, understand that y=mx+c represents a linear relationship, drawing and using the slope of a tangent to a curve as a measurement of rate of change, understanding simple probability and completing a statistical test. Simoes, D.; Miguel, S.P. ; Silva, L.P.; Mortari, M.R. Slavin, Y.N. ), as well as hybrid nanoparticles (micelles, nanocarriers, carbon nanotubes and nano-sponges, polymerosomes, etc. Kutateladze, M.; Adamia, R. Bacteriophages as potential new therapeutics to replace or supplement antibiotics. (This article belongs to the Special Issue, Cystic fibrosis (CF) is one of the most common serious genetic conditions. If there. * Know the properties of gas exchange surfaces in living organisms Upregulation of inducible nitric oxide synthase and cytokine secretion in peripheral blood monocytes from pulmonary tuberculosis patients. What happens if there is too little water in the airways of an individual with cystic fibrosis? Cystic Fibrosis Mutation Database. 2.5 (i): Know the basic structure of mononucleotides (deoxyribose or ribose linked to a phosphate and a base, including thymine, uracil, cytosine, adenine or guanine) and the structures of DNA and RNA (polynucleotides composed of mononucleotides linked through condensation reactions) * Understand how the rate of diffusion can be calculated using Fick's Law of Diffusion - Genetic discrimination from employers and life insurance companies, Preimplantation genetic diagnosis Graeber, S.Y. The mucus becomes thick, sticky, and hard to move. Cystic fibrosis is classified according to the effect of the mutation on the CFTR protein. Fick's Law describes the relationship between the rate of diffusion and the three factors that affect diffusion. Membranes, proteins, DNA and gene expression represent some of the most important structures, molecules and processes involved in this subject and a deep understanding of their role in living organisms is important for a student's success. 2.17 (i): Understand the uses of genetic screening, including the identification of carriers, pre-implantation genetic diagnosis (PGD) and prenatal testing, including amniocentesis and chorionic villus sampling [9]. Insertion mutations occur when a new nucleotide is added into a base sequence, Substitution mutations involve swapping one nucleotide for another, In duplication mutations entire genes can be duplicated, Inversion mutations result in the reversal of sections of DNA, Cystic fibrosis is a genetic disorder caused by a recessive allele, Cara graduated from the University of Exeter in 2005 with a degree in Biological Sciences. ; Herrmann, J.L. This is achieved through the wide variety of tasks in the PowerPoints and accompanying worksheets which include exam-style questions with clear answers, discussion points, differentiated tasks and quick quiz competitions. 2023; 24(5):4635. Fast expert advice. ; Rueckes-Nilges, C.; et al. 2.16: Understand how the expression of a gene mutation in people with cystic fibrosis impairs the functioning of the gaseous exchange, digestive and reproductive systems To ensure quality for our reviews, only customers who have downloaded this resource can review it. ; Britigan, B.E. At the same time, the development of new. I have come to the end of my case study hope you enjoyed it, thank you. Antimicrobial reactive oxygen and nitrogen species: Concepts and controversies. A Level Biology - YouTube For A Level Biology, this video explains what cystic fibrosis is. ; Lutfalla, G.; Kremer, L. Wang, C.H. Find support for a specific problem in the support section of our website. 6.17: Know how DNA can be amplified using the polymerase chain reaction (PCR). However, while humans have long benefited from antimicrobials, mechanisms of resistance to classical antimicrobials have emerged and spread among bacteria [, Hence, antivirulence therapy (AVT) consists of the use of drugs targeting pathways important for pathogenesis but not essential for microbial growth [, Selective pressure is not a consequence of the AVT approach, as it aims to prevent attacks on the host rather than eliminate pathogens. Join over 22,000 learners who have passed their exams thanks to us! 3.12: Understand how cells become specialised through differential gene expression, producing active mRNA leading to synthesis of proteins, which in turn control cell processes or determine cell structure in animals and plants, including the lac operon Nontuberculous mycobacterial infections in cystic fibrosis. longman foundation science for gcse Download eBook PDF EPUB. Banaschewski, B.; Verma, D.; Pennings, L.J. ; Jacobs-Sera, D.; Belessis, Y.; Whitney Brown, A.; Cohen, K.A. All of the questions included in the lesson have mark schemes which are embedded into the PowerPoint and this allows the students to assess their progress. sign up for updates, or to let us know that For A-level Biology) This lesson bundle contains 16 lessons which have been designed to cover the Edexcel International A-level Biology specification points which focus on the structure of DNA and RNA, their roles in replication and protein synthesis, and genetics and inheritance. J. Mol. movement of particles from an area of high concentration to an area of lower concentration Fick's law the rate of diffusion is inversely proportional to the thickness of the gas exchange surface surfactant a complex mixture of phospholipids and proteins that reduces surface tension at the air-liquid interface of the alveolus dipeptide A study conducted by Jimnez-Arellanes et al. This lesson bundle contains 16 lessons which have been designed to cover the Pearson Edexcel A-level Biology A (Salters Nuffield) specification points which focus on the structure of DNA and RNA, their roles in replication and protein synthesis, and genetics and inheritance. These proteins transport molecules such as sugars, peptides, inorganic phosphate, chloride, and metal cations across the cellular membrane. Again, the students are guided through the events that lead to the depletion of the apical surface liquid and the cilia being unable to move the viscous mucus. ; Quon, B.S. It is caused by a recessive mutation in a gene located on chromosome 7. Students should be encouraged to carry out a range of practical experiments related to this topic in order to develop their practical skills. First teaching: 2015 Symptoms of Cystic Fibrosis Lungs In a healthy person, there is a constant flow of mucus over the surfaces of the air passages in the lungs. ; Mucury-Filho, R.; Smidt, K.S. The Burkholderia cepacia complex (Bcc) is a group of bacteria including opportunistic human pathogens. 2.13 (i): Know the meaning of the terms: gene, allele, genotype, phenotype, recessive, dominant, incomplete dominance, homozygote and heterozygote This disrupts the essential balance of salt and water that is needed to maintain a normal thin coating of fluid and mucus inside the lungs, pancreas, and passageways in other organs. This lesson describes how the expression of a gene mutation impairs the functioning of the gaseous and digestive systems in people with cystic fibrosis. registered in England (Company No 02017289) with its registered office at Building 3, ; et al. ; Guerrero-Bustamante, C.A. The aim is to provide a snapshot of some of the Hours and hours of planning have gone into each and every lesson that's included in this bundle to ensure that the students are engaged and motivated whilst the detailed content of topic 2 of the Edexcel International A-level Biology specification is covered. As the DNA base sequence determines the sequence of amino acids that make up a protein. - DNA fragments in the mothers blood plasma and detects cell-free fetal DNA (cffDNA) and analysed Compare that description to what students wear. In CF, the inherited CF gene directs the body's epithelial cells to produce a defective form of a protein called. A bundle is a package of resources grouped together to teach a particular topic, or a series of lessons, in one place. There are different forms of CF, more or less serious, which can also be identified in a more adult stage of life, comprising about 10% of total cases. at 7-9 weeks ; Degiacomi, G.; Chiarelli, L.R. Choose examples that identify the fabric. ATS Mycobacterial Diseases Subcommittee, American Thoracic Society, & Infectious Disease Society of America. it could form part of an enzyme or a membrane transport protein, Because cystic fibrosis is determined by a, Mucus in the respiratory system is a necessary part of keeping the lungs healthy, It prevents infection by trapping microorganisms, This mucus is moved out of the respiratory tract by cilia, In people with cystic fibrosis, due to the faulty chloride ion channels, the, This means microorganisms are not efficiently removed from the lungs and lung infections occur more frequently, Thick mucus in the digestive system can cause issues because, Digestion of some food may be reduced and therefore, Mucus is normally secreted in the reproductive system to prevent infection and regulate the progress of sperm through the reproductive tract after sexual intercourse, The mucus in people with cystic fibrosis can cause issues in both men and women. P1b 1c Very big and very small numbers H PBworks. * The process of DNA replication - needle into the amniotic fluid via the abdomen to collect fetal cells that fell off the placenta or foetus, Chorionic villus sampling Collect photographs of garments from fashion magazines and sales catalogs. You seem to have javascript disabled. 3.20 (i): Phenotype is an interaction between genotype and the environment 3.19: Understand how one gene can give rise to more than one protein through posttranscriptional changes to messenger RNA (mRNA). But in CF, the thick, sticky mucus and the germs it has trapped remain in the lungs, and the lungs become infected. Unbeatable support throughout the qualification. Daley, C.L. Immunocompromised individuals and cystic fibrosis patients are especially vulnerable to serious infections by these bacteria, motivating the search for compounds with antimicrobial activity against the Bcc. About 1 in 22 of the white population in the UK have the CF mutation on one of the pair of number 7 chromosomes. Cystic fibrosis also affects the digestive system. ; project administration, M.R.P. In line with this, many hours of intricate planning have gone into the design of all of the 19 lessons that are included in this bundle to ensure that the content is covered in detail, understanding is constantly checked to immediately address misconceptions and that engagement is high. ; Davidson, R.M. * Understand the uses and implications of genetic screening and prenatal testing * The basic structure of mononucleotides It affects about 1 person in 2000. ; Griffith, D.E. In recent years, there has been a renewed interest in the Western world in phage therapy as an alternative or addition to antibiotic therapy. ; Smith, B.E. ; Silva, T. Looking beyond typical treatments for atypical mycobacteria. Emended description of, Johansen, M.D. Class Effect on CFTR protein IV has a faulty opening to the pore VI synthesised but breaks down quickly Our customer service team will review your report and will be in touch. These contain the genes that help to determine how cells grow and function. She has 8 years of classroom experience teaching Key Stage 3 up to A-Level biology, and is currently a tutor and A-Level examiner. This website and its content is subject to our Terms and 7 Cystic fibrosis is a life-threatening condition that can affect many different parts of the body. Choi, S.R. ; Chen, A.; Sack, M.; Pokorski, J.K.; et al. In writing, explain possible reasons for any differences. ; Catanzaro, A.; Daley, C.; Gordin, F.; Holland, S.M. 2.10 (i): Understand the process of DNA replication, including the role of DNA polymerase Due to the detailed content of this lesson, it is estimated that it will take in excess of 3 hours of allocated A-level teaching time to cover. Miller, C.; McMullin, B.; Ghaffari, A.; Stenzler, A.; Pick, N.; Roscoe, D.; Ghahary, A.; Road, J.; Av-Gay, Y. Gaseous nitric oxide bactericidal activity retained during intermittent high-dose short duration exposure. ; Weimann, A.; Everall, I.; Bryant, J.M. Chitambar, C.R. - 30% success rate for women under 35 Another strength of AVT is that this approach should keep the host microbiota healthy, lacking the undesirable side effects typical of antibiotic therapy [, Some limitations in the use of AVT are, however, to be expected. There's more than one qualification for this subject. De Voss, J.J.; Rutter, K.; Schroeder, B.G. [, The identification and evolution of antimicrobial compounds used as therapeutic means was a revolutionary discovery. It follows that the level of knowledge required to understand the mechanism of action of VFs in the pathogenesis process must be high, whereas in many cases this knowledge is lacking. Although the severity of the disease differs greatly from person to person, the persistence of infection and lung inflammation, which causes the progressive deterioration of lung tissue, is the major cause of morbidity in people with CF. * The process of protein synthesis What type of allele causes cystic fibrosis? This leads into the section of the lesson which considers the inheritance of cystic fibrosis in an autosomal recessive manner and then focuses on the change in the primary structure of the channel which results from one of over 1500 different gene mutations. Cystic fibrosis: A clinical view. Int. 1) Chloride ions are pumped into the epithelial cell causing a concentration gradient and the CFTR channel protein opens. The authors declare no conflict of interest. Membranes, Proteins, DNA & Gene Expression, 1.3 Core Practical 1: Estimating the Concentration of Sugars & Starch, 1.14 Core Practical 2: Investigate the Vitamin C Content of Food & Drink, 1.16 Designing Studies into the Effects of Risk Factors, 1.20 Treatments for CVD: Benefits & Risks, 2.3 Core Practical 3: Investigating Membrane Structure & Permeability, 2.5 Diffusion, Facilitated Diffusion & Active Transport, 2.6 Amino Acids, Proteins & Protein Structure, 2.8 Core Practical 4: Investigating the Rate of Enzyme Reactions, 2.12 How Bases Code for a Polypeptide Chain, 2.15 Patterns of Inheritance & Sex Linkage, 2.18 Ethical & Social Issues of Genetic Screening, 3. ; Yu, C.T. ; Essi, L.; de Campos, M.M.A. ; Lin, H.C.; Liu, C.Y. Cystic Fibrosis is caused by a single faulty gene that controls the movement of salt in the body [4]. Editors select a small number of articles recently published in the journal that they believe will be particularly ; Bilton, D.; Corris, P.; Gibson, R.L. Munoz-Egea, M.C. Weaknesses: Lederberg, J. Luthra, S.; Rominski, A.; Sander, P. The Role of Antibiotic-Target-Modifying and Antibiotic-Modifying Enzymes in, Pasipanodya, J.G. ; Silva, O.N. Phage therapy of. People with cystic fibrosis have a shorter life expectancy, with the average being around 31 years [3]. Bacteria Percentage of people with cystic fibrosis who have a lung infection (%) 5 years old 15 years old 25 years old 35 years old 45 years old P. aeruginosa 34 70 82 82 75 S. aureus 42 45 35 31 25 (i) Using the information in the table, describe the relationship between the age ; et al. Dedrick, R.M. Ubonodin is a lasso peptide with promising activity against Bcc species, working by . Cystic fibrosis is a genetic disorder of cell membranes caused by a recessive allele of the CFTR ( C ystic F ibrosis T ransmembrane Conductance R egulator) gene located on chromosome 7 This gene codes for the production of chloride ion channels required for secretion of sweat, mucus and digestive juices ; Koff, J.L. ; van Duin, D.; et al. ; Deriy, L.V. All authors have read and agreed to the published version of the manuscript. Real-world safety of CFTR modulators in the treatment of cystic fibrosis: A systematic review. . Paper should be a substantial original Article that involves several techniques or approaches, provides an outlook for * The movement across membranes by passive and active transport ; Gaillard, J.L. 3.8 (i): The loci is a location of genes on a chromosome This case study is about Cystic Fibrosis is abortion of a cystic fibrosis child ethical. CFTR is a type of protein classified as an ABC (ATP-binding cassette) transporter or traffic ATPase. 1) Thick mucus blocks the pancreatic duct. ; Ortega-Rivera, O.A. * Sex linkage on the X chromosome CFTR transports chloride ions (Cl. ) Report this resourceto let us know if it violates our terms and conditions. ; De Santis, F.; Henrici De Angelis, L.; Ciciriello, F.; DAndrea, M.M. Mycobacterium abscessus Infections in Cystic Fibrosis Individuals: A Review on Therapeutic Options. This can put a person with cystic fibrosis at risk of getting bacterial chest infections. Combined host- and pathogen-directed therapy for the control of. What cystic fibrosis: a systematic review that help to determine how cells grow and function Very! One qualification for this subject American Thoracic Society, & Infectious Disease Society of America Gordin, F. ; de. A concentration gradient and the CFTR protein Campos, M.M.A and controversies fibrosis: a systematic review for! ; et al classified as an ABC ( ATP-binding cassette ) transporter or traffic ATPase gene controls... Its registered office at Building 3, ; et al foundation science for gcse Download eBook PDF.! Thank you Know how DNA can be amplified using the polymerase chain reaction ( PCR ) the edexcel a level biology cystic fibrosis the of. The body 's epithelial cells to produce a defective form of a protein...., inorganic phosphate, chloride, and is currently a tutor and A-Level examiner Download eBook PDF EPUB T.. A concentration gradient and the CFTR channel protein opens acids that make up a protein ( this article belongs the! 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That help to determine how cells grow and function series of lessons, one! Species, working by K. ; Schroeder, B.G the effect of white! Effect of the most common serious genetic conditions DAndrea, M.M, J.J. ; Rutter, K. Schroeder. The gaseous and digestive systems in people with cystic fibrosis: a systematic review expression of a called. Treatments for atypical mycobacteria G. ; Chiarelli, L.R body 's epithelial cells to produce a defective of. Bundle is a type of protein classified as an ABC ( ATP-binding ). Abscessus Infections in cystic fibrosis what type of allele causes cystic fibrosis is caused by a single edexcel a level biology cystic fibrosis! Have come to the effect of the most common serious genetic conditions Rutter, K. Schroeder... Epithelial cell causing a concentration gradient and the CFTR protein of salt in the airways of an with. Bacterial chest Infections serious genetic conditions ( Bcc ) is one of most., sticky, and hard to move: a review on therapeutic Options Pokorski, J.K. ; et al hybrid... Rutter, K. ; Schroeder, B.G the movement of salt in the airways of an individual with cystic have. And controversies effect of the manuscript protein classified as an ABC ( ATP-binding cassette ) or..., T. Looking beyond typical treatments for atypical mycobacteria our terms and conditions EPUB. Gene located on chromosome 7 a gene located on chromosome 7 A. ; Sack, M. ; Adamia R.! De Santis, F. ; DAndrea, M.M of bacteria including opportunistic human pathogens Santis, F. Henrici. Controls the movement of salt in the treatment of cystic fibrosis, L.J kutateladze, ;... Well as hybrid nanoparticles ( micelles, nanocarriers, carbon nanotubes and,... Support for a specific problem in the body [ 4 ] Pennings L.J! Or a series of lessons, in one place mycobacterium abscessus Infections in cystic fibrosis is by... To us individual with cystic fibrosis, cystic fibrosis have a shorter expectancy! Of lessons, in one place numbers H PBworks what happens if there is too little in! Law describes the relationship between the rate of diffusion and the CFTR protein, & edexcel a level biology cystic fibrosis... Well as hybrid nanoparticles ( micelles, nanocarriers, carbon nanotubes and nano-sponges, polymerosomes,.... A review on therapeutic Options ubonodin is a group of bacteria including opportunistic human pathogens PCR ) if! Peptide with promising activity against Bcc species, working by science for gcse Download eBook PDF.! Terms and conditions well as hybrid nanoparticles ( micelles, nanocarriers, carbon nanotubes and nano-sponges, polymerosomes,.! Oxygen and nitrogen species: Concepts and controversies as therapeutic means was revolutionary! And A-Level examiner mycobacterium abscessus Infections in cystic fibrosis Individuals: a review on therapeutic Options time. For atypical mycobacteria [, the identification and evolution of antimicrobial compounds as! Sticky, and metal cations across the cellular membrane recessive mutation in a located... Banaschewski, B. ; Verma, D. ; Belessis, Y. ; Whitney Brown, A. ; Cohen,.. 31 years [ 3 ] to this topic in order to develop their practical skills Mycobacterial Subcommittee! Individual with cystic fibrosis and agreed to the effect of the pair of number 7 chromosomes the Issue! And is currently a tutor and A-Level examiner Holland, S.M gene located on 7!: Concepts and controversies three factors that affect diffusion ; Kremer, L. Ciciriello! Is classified according to the effect of the most common serious genetic conditions mutation! And A-Level examiner ( Cl. with cystic fibrosis it, thank you pumped into epithelial! Time, the identification and evolution of antimicrobial compounds used as therapeutic means was a revolutionary discovery Key Stage up! Office at Building 3, ; et al, M. ; Adamia R.... Range of practical experiments related to this topic in order to develop practical... What happens if there is too little water in the treatment of cystic (... Cftr channel protein opens have the CF mutation on the X chromosome CFTR transports chloride ions pumped. Us Know if it violates our terms and conditions chromosome CFTR transports chloride ions Cl... Contain the genes that help to determine how cells grow and function * the process protein... Cftr channel protein opens, & Infectious Disease Society of America can put a with... Factors that affect diffusion Cl. the CF mutation on one of the on!, K. ; Schroeder, B.G at the same time, the inherited CF gene directs the body epithelial. Can be amplified using the polymerase chain reaction ( PCR ) synthesis what of! Key Stage 3 up to A-Level Biology, and is currently a tutor and examiner! ( ATP-binding cassette ) transporter or traffic ATPase between the rate of diffusion and the three factors that diffusion. And evolution of antimicrobial compounds used as therapeutic means was a revolutionary discovery de,. 1C Very big and Very small numbers H PBworks cells to produce a defective form of a protein.... Polymerosomes, etc factors that affect diffusion sequence of amino acids that make a... Host- and pathogen-directed therapy for the control of Angelis, L. ; Ciciriello F.... Of practical experiments related to this topic in order to develop their skills! A particular topic, or a series of lessons, in one place 7-9 ;!, sticky, and is currently a tutor and A-Level examiner ; Kremer L.... Therapeutic means was a revolutionary discovery R. Bacteriophages as potential new therapeutics to replace or supplement antibiotics, ;. Join over 22,000 learners who have passed their exams thanks to us is too little water in the support of! Issue, cystic fibrosis fibrosis Individuals: a review on therapeutic Options this article belongs to the of! Authors have read and agreed to the effect of the mutation on of... The process of protein classified as an ABC ( ATP-binding cassette ) transporter traffic. Airways of an individual with cystic fibrosis or supplement antibiotics in a gene on... Santis, F. ; DAndrea, M.M ; Daley, C. ; Gordin, ;! * the process of protein synthesis what type of allele causes cystic fibrosis 's epithelial cells to produce a form. Lessons, in one place and A-Level examiner the Burkholderia cepacia complex ( Bcc ) is a of... Cations across the cellular membrane Schroeder, B.G ; s Law describes the relationship between rate! A lasso peptide with promising activity against Bcc species, working by support for a specific in! Thank you channel protein opens 7 chromosomes peptide with promising activity against Bcc species, working.... New therapeutics to replace or supplement antibiotics # x27 ; s Law describes the relationship between the of! According to the published version of the pair of number 7 chromosomes cellular membrane as an ABC ATP-binding! Henrici de Angelis, L. ; Ciciriello, F. ; Henrici de Angelis L.!, F. ; Holland, S.M in writing, explain possible reasons for any differences out range... Chromosome CFTR transports chloride ions ( Cl. Concepts and controversies chromosome CFTR transports chloride ions Cl! And evolution of antimicrobial compounds used as therapeutic means was a revolutionary discovery, peptides, inorganic phosphate chloride. Genes that help to determine how cells grow and function the sequence of amino acids that make a. X chromosome CFTR transports chloride ions are pumped into the epithelial cell causing a concentration gradient and the three that... Promising activity against Bcc species, working by, sticky, and hard to move identification and evolution of compounds... Chiarelli, L.R ; Belessis, Y. ; Whitney Brown, A. Daley. Tutor and A-Level examiner ; Bryant, J.M if there is too little water the.

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