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A presentation containing information about numerical and structural chromosomal abnormalities
Chromosomal abnormalities
Chromosomal abnormalities
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Here, Genetic disorder and chromosomal abnormality discussed briefly. *Types of the genetic disorder *briefly discussed on different genetic diseases *chromosomal anomaly i.e. structural and numerical anomaly. etc.
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Chromosomes are thread-like structures located inside the nucleus of animal and plant cells. Each chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA). Passed from parents to offspring, DNA contains the specific instructions that make each type of living creature unique. The term chromosome comes from the Greek words for color (chroma) and body (soma). In the present slide, the structural chromosomal aberration is discussed. The diseases caused due to such aberrations are also explained. Hope you all enjoy. Feel free to comment if have any further clarifications.
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A presentation containing information about numerical and structural chromosomal abnormalities
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Here, Genetic disorder and chromosomal abnormality discussed briefly. *Types of the genetic disorder *briefly discussed on different genetic diseases *chromosomal anomaly i.e. structural and numerical anomaly. etc.
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Chromosomes are thread-like structures located inside the nucleus of animal and plant cells. Each chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA). Passed from parents to offspring, DNA contains the specific instructions that make each type of living creature unique. The term chromosome comes from the Greek words for color (chroma) and body (soma). In the present slide, the structural chromosomal aberration is discussed. The diseases caused due to such aberrations are also explained. Hope you all enjoy. Feel free to comment if have any further clarifications.
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Autosomal recessive inheritance refers to the pattern of inheritance of a condition directly or indirectly due to a recessive faulty gene copy located on an autosome Conditions that follow a pattern of autosomal recessive inheritance usually affect men and women equally and include cystic fibrosis, thalassaemia, Tay-Sachs disease and haemochromatosis. These autosomal recessive conditions are more common in individuals of certain ethnic or cultural backgrounds Where both parents are unaffected carriers of the autosomal recessive faulty gene for a particular genetic condition, there is 1 chance in 4 (25% chance) in every pregnancy that their child will inherit the faulty gene copy from both parents and be affected by or predisposed to develop the condition When only one parent is an unaffected carrier of the autosomal recessive faulty gene, there is no chance that their child will be affected by or predisposed to develop the condition Where both parents affected by the condition, they will both have two copies of the autosomal recessive faulty genes. All of their children will also be affected by or predisposed to develop the condition Where one parent is an unaffected carriers of the autosomal recessive faulty gene for a particular genetic condition, and the other parent is affected by the condition, 1 chance in 2 (50% chance) in every pregnancy that they will have a child who inherits both copies of the faulty gene. In this case, the child will be affected or predisposed to develop the condition
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Chromosomal Basis of Inheritance Be familiar with patterns of inheritance for autosomal and sex linked genes Understand the concept of “Linked Genes” Understand how traits affected by incomplete dominance and codominance differ from autosomal dominant and autosomal recessive traits Understand how nondisjunction of chromosomes can lead to disorders. Linked genes: are those that reside on the same chromosome and tend to be inherited together Humans have 23 pairs of chromosomes Autosomal genes reside on the autosomal chromosomes (pairs 1-22) Sex-linked genes are found on the sex chromosomes (pair 23, usually on the X) Autosomal genes are usually represented by a pair of alleles The phenotype of the gene reflects the dominant or recessive relationship of the alleles. Most autosomal genetic diseases are autosomal recessive meaning the individual need to be homozygous recessive to exhibit the condition (example: cystic fibrosis) Production of abnormmaly thick mucus. Leading to the blockage of panreatic duct, intestines and respiratory infection. Huntington’s disease is an autosomal dominant disorder meaning that is a single Huntingtons allele is inherited, the individual will have the disease. Some alleles do not show a dominance hierarchy Incomplete dominance: the phenotype of a heterozygous genotype is intermediate in appearance Codominance: each allele in the genotype for a particular gene will be expressed in the phenotype Males and females differ in their sex chromosome combination (females XX; males XY) Because the X contains genes and the Y “does not”, inheritance patterns of sex-linked genes vary between the sexes recessive traits more prevalent in males Genetic disorders can also occur due to errors in the number of inherited chromosomes This condition arises through a problem that occurs during meiosis Although female mammals, including humans, inherit two X chromosomes, one X chromosome in each cell becomes almost completely inactivated during embryonic development. Barr body Nondisjunction: Leads to aneuploidy: Aneuploidy: is the condition of having less than or more than the normal diploid number of chromosomes, and is the most frequently observed type of cytogenetic abnormality. Mendelian inheritance has its physical basis in the behavior of chromosomes during sexual life cycles. Morgan traced a gene to a specific chromosome. Sex-linked genes have unique patterns of inheritance. Alterations of chromosome numbers or structure cause some genetic disorders. Linked genes tend to be inherited together because they are located on the same chromosome. Independent assortment of chromosomes and crossing over produce genetic variation (recombinants) Geneticists can use recombination data to map a chromosomes genetic loci. Chromosomal basis for sex is dependent upon the organism.
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Chromosomal Basis of Inheritance Be familiar with patterns of inheritance for autosomal and sex linked genes Understand the concept of “Linked Genes” Understand how traits affected by incomplete dominance and codominance differ from autosomal dominant and autosomal recessive traits Understand how nondisjunction of chromosomes can lead to disorders. Linked genes: are those that reside on the same chromosome and tend to be inherited together Humans have 23 pairs of chromosomes Autosomal genes reside on the autosomal chromosomes (pairs 1-22) Sex-linked genes are found on the sex chromosomes (pair 23, usually on the X) Autosomal genes are usually represented by a pair of alleles The phenotype of the gene reflects the dominant or recessive relationship of the alleles. Most autosomal genetic diseases are autosomal recessive meaning the individual need to be homozygous recessive to exhibit the condition (example: cystic fibrosis) Production of abnormmaly thick mucus. Leading to the blockage of panreatic duct, intestines and respiratory infection. Huntington’s disease is an autosomal dominant disorder meaning that is a single Huntingtons allele is inherited, the individual will have the disease. Some alleles do not show a dominance hierarchy Incomplete dominance: the phenotype of a heterozygous genotype is intermediate in appearance Codominance: each allele in the genotype for a particular gene will be expressed in the phenotype Males and females differ in their sex chromosome combination (females XX; males XY) Because the X contains genes and the Y “does not”, inheritance patterns of sex-linked genes vary between the sexes recessive traits more prevalent in males Genetic disorders can also occur due to errors in the number of inherited chromosomes This condition arises through a problem that occurs during meiosis Although female mammals, including humans, inherit two X chromosomes, one X chromosome in each cell becomes almost completely inactivated during embryonic development. Barr body Nondisjunction: Leads to aneuploidy: Aneuploidy: is the condition of having less than or more than the normal diploid number of chromosomes, and is the most frequently observed type of cytogenetic abnormality. Mendelian inheritance has its physical basis in the behavior of chromosomes during sexual life cycles. Morgan traced a gene to a specific chromosome. Sex-linked genes have unique patterns of inheritance. Alterations of chromosome numbers or structure cause some genetic disorders. Linked genes tend to be inherited together because they are located on the same chromosome. Independent assortment of chromosomes and crossing over produce genetic variation (recombinants) Geneticists can use recombination data to map a chromosomes genetic loci. Chromosomal basis for sex is dependent upon the organism.
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Activity 4: Understanding the basics of meiosis Mitosis and meiosis both lead to new daughter cells, but meiosis sets up organisms for sexual reproduction. Meiosis produces cells (sperm and egg in humans) with only one set of chromosomes so that when fertilization occurs, it results in a new cell with two sets of chromosomes (one from the egg and one from the sperm). This is how there is genetic recombination of DNA resulting in unique individuals. Before we talk about what can go wrong in meiosis, you need to be clear about the process itself and how genetic recombination in particular occurs. To this end, complete the following set of questions. Questions 1. In the following diagram, draw what a cell with 1 chromosome would look like in the stages of meiosis. Prophase 1 is filled in for you and includes replicated homologous chromosomes; the black replicated chromosome is from the reproducing male’s mom and the grey replicated chromosome is from dad. 2. In your diagram from question 1: a. How many tetrads are formed? _______________ b. How many chromosomes are in the sperm? _______________ 3. In what stage(s) of meiosis: a. Are tetrads formed? ________________________________ b. Does crossing over occur? ________________________________ c. Do the chromosomes move to the poles? ________________________________ d. Do replicated chromosomes separate? ________________________________ e. Does the cytoplasm divide? ________________________________ 4. What processes in meiosis result in genetically unique daughter cells? When do these processes occur? (Note: There are two main processes; discuss both). 5. Compare and contrast meiosis with mitosis to complete the following table. Table 2. Comparison of key characteristics between meiosis and mitosis. Characteristics Mitosis Meiosis Type of organisms it occurs in # of chromosomes in human parent cell Number of times chromosomes replicate Number of cell divisions Crossing over occurs? (Y/N) Type of daughter cells produced Number of daughter cells produced Daughter cells identical to parent cell? (Y/N) Daughter cells are: 1n or 2n? # of chromosomes in human daughter cells Activity 3: Chromosomes in mitosis and meiosis In the nucleus of the cell are the chromosomes that are composed of the hereditary material DNA. In every somatic (body) cell of a human there are 46 chromosomes. Each species may have a different number of chromosomes than another species. Since each somatic cell of an organism contains the same number of chromosomes, there must be a duplication of material before the nucleus divides during mitosis. In each somatic cell, there are two sets of chromosomes; this is referred to as the 2n (diploid) number, in which n means number of chromosomes. In humans, 2n = 46 chromosomes. In each gamete (sex) cell, there is only one set of chromosomes; this is referred to as the 1n (haploid) number. In humans, 1n = 23 chromosomes. This means the.
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Cell cycle
Homeostasis
Homeostasis
Cell transport
Cell transport
Cell membrane structure
Cell membrane structure
Atp
Atp
Chloroplast and mitochondria
Chloroplast and mitochondria
Enzymes
Enzymes
Prop of water
Prop of water
Cellular respiration
Cellular respiration
The study of biology
The study of biology
Characteristics of life
Characteristics of life
Viruses
Viruses
Bacteria
Bacteria
Recently uploaded
I've been in the field of "Cyber Security" in its many incarnations for about 25 years. In that time I've learned some lessons, some the hard way. Here are my slides presented at BSides New Orleans in April 2024.
The 7 Things I Know About Cyber Security After 25 Years | April 2024
The 7 Things I Know About Cyber Security After 25 Years | April 2024
Rafal Los
The presentation explores the development and application of artificial intelligence (AI) from its inception to its current status in the modern world. The term "artificial intelligence" was first coined by John McCarthy in 1956 to describe efforts to develop computer programs capable of performing tasks that typically require human intelligence. This concept was first introduced at a conference held at Dartmouth College, where programs demonstrated capabilities such as playing chess, proving theorems, and interpreting texts. In the early stages, Alan Turing contributed to the field by defining intelligence as the ability of a being to respond to certain questions intelligently, proposing what is now known as the Turing Test to evaluate the presence of intelligent behavior in machines. As the decades progressed, AI evolved significantly. The 1980s focused on machine learning, teaching computers to learn from data, leading to the development of models that could improve their performance based on their experiences. The 1990s and 2000s saw further advances in algorithms and computational power, which allowed for more sophisticated data analysis techniques, including data mining. By the 2010s, the proliferation of big data and the refinement of deep learning techniques enabled AI to become mainstream. Notable milestones included the success of Google's AlphaGo and advancements in autonomous vehicles by companies like Tesla and Waymo. A major theme of the presentation is the application of generative AI, which has been used for tasks such as natural language text generation, translation, and question answering. Generative AI uses large datasets to train models that can then produce new, coherent pieces of text or other media. The presentation also discusses the ethical implications and the need for regulation in AI, highlighting issues such as privacy, bias, and the potential for misuse. These concerns have prompted calls for comprehensive regulations to ensure the safe and equitable use of AI technologies. Artificial intelligence has also played a significant role in healthcare, particularly highlighted during the COVID-19 pandemic, where it was used in drug discovery, vaccine development, and analyzing the spread of the virus. The capabilities of AI in healthcare are vast, ranging from medical diagnostics to personalized medicine, demonstrating the technology's potential to revolutionize fields beyond just technical or consumer applications. In conclusion, AI continues to be a rapidly evolving field with significant implications for various aspects of society. The development from theoretical concepts to real-world applications illustrates both the potential benefits and the challenges that come with integrating advanced technologies into everyday life. The ongoing discussion about AI ethics and regulation underscores the importance of managing these technologies responsibly to maximize their their benefits while minimizing potential harms.
Artificial Intelligence: Facts and Myths
Artificial Intelligence: Facts and Myths
Joaquim Jorge
Details
Histor y of HAM Radio presentation slide
Histor y of HAM Radio presentation slide
vu2urc
MySQL Webinar, presented on the 25th of April, 2024. Summary: MySQL solutions enable the deployment of diverse Database Architectures tailored to specific needs, including High Availability, Disaster Recovery, and Read Scale-Out. With MySQL Shell's AdminAPI, administrators can seamlessly set up, manage, and monitor these solutions, ensuring efficiency and ease of use in their administration. MySQL Router, on the other hand, provides transparent routing from the application traffic to the backend servers in the architectures, requiring minimal configuration. Completely built in-house and supported by Oracle, these solutions have been adopted by enterprises of all sizes for their business-critical applications. In this presentation, we'll delve into various database architecture solutions to help you choose the right one based on your business requirements. Focusing on technical details and the latest features to maximize the potential of these solutions.
Mastering MySQL Database Architecture: Deep Dive into MySQL Shell and MySQL R...
Mastering MySQL Database Architecture: Deep Dive into MySQL Shell and MySQL R...
Miguel Araújo
Abhishek Deb(1), Mr Abdul Kalam(2) M. Des (UX) , School of Design, DIT University , Dehradun. This paper explores the future potential of AI-enabled smartphone processors, aiming to investigate the advancements, capabilities, and implications of integrating artificial intelligence (AI) into smartphone technology. The research study goals consist of evaluating the development of AI in mobile phone processors, analyzing the existing state as well as abilities of AI-enabled cpus determining future patterns as well as chances together with reviewing obstacles as well as factors to consider for more growth.
Exploring the Future Potential of AI-Enabled Smartphone Processors
Exploring the Future Potential of AI-Enabled Smartphone Processors
debabhi2
Discover the advantages of hiring UI/UX design services! Our blog explores how professional design can enhance user experiences, boost brand credibility, and increase customer engagement. Learn about the latest design trends and strategies that can help your business stand out in the digital landscape. Elevate your online presence with Pixlogix's expert UI/UX design services.
Advantages of Hiring UIUX Design Service Providers for Your Business
Advantages of Hiring UIUX Design Service Providers for Your Business
Pixlogix Infotech
Presented by Sergio Licea and John Hendershot
How to Troubleshoot Apps for the Modern Connected Worker
How to Troubleshoot Apps for the Modern Connected Worker
ThousandEyes
Stay safe, grab a drink and join us virtually for our upcoming "GenAI Risks & Security" Meetup to hear about how to uncover critical GenAI risks and vulnerabilities, AI security considerations in every company, and how a CISO should navigate through GenAI Risks.
GenAI Risks & Security Meetup 01052024.pdf
GenAI Risks & Security Meetup 01052024.pdf
lior mazor
Presentation from Melissa Klemke from her talk at Product Anonymous in April 2024
ProductAnonymous-April2024-WinProductDiscovery-MelissaKlemke
ProductAnonymous-April2024-WinProductDiscovery-MelissaKlemke
Product Anonymous
These are the slides delivered in a workshop at Data Innovation Summit Stockholm April 2024, by Kristof Neys and Jonas El Reweny.
Workshop - Best of Both Worlds_ Combine KG and Vector search for enhanced R...
Workshop - Best of Both Worlds_ Combine KG and Vector search for enhanced R...
Neo4j
If you are a Domino Administrator in any size company you already have a range of skills that make you an expert administrator across many platforms and technologies. In this session Gab explains how to apply those skills and that knowledge to take your career wherever you want to go.
A Domino Admins Adventures (Engage 2024)
A Domino Admins Adventures (Engage 2024)
Gabriella Davis
As privacy and data protection regulations evolve rapidly, organizations operating in multiple jurisdictions face mounting challenges to ensure compliance and safeguard customer data. With state-specific privacy laws coming up in multiple states this year, it is essential to understand what their unique data protection regulations will require clearly. How will data privacy evolve in the US in 2024? How to stay compliant? Our panellists will guide you through the intricacies of these states' specific data privacy laws, clarifying complex legal frameworks and compliance requirements. This webinar will review: - The essential aspects of each state's privacy landscape and the latest updates - Common compliance challenges faced by organizations operating in multiple states and best practices to achieve regulatory adherence - Valuable insights into potential changes to existing regulations and prepare your organization for the evolving landscape
TrustArc Webinar - Stay Ahead of US State Data Privacy Law Developments
TrustArc Webinar - Stay Ahead of US State Data Privacy Law Developments
TrustArc
With more memory available, system performance of three Dell devices increased, which can translate to a better user experience Conclusion When your system has plenty of RAM to meet your needs, you can efficiently access the applications and data you need to finish projects and to-do lists without sacrificing time and focus. Our test results show that with more memory available, three Dell PCs delivered better performance and took less time to complete the Procyon Office Productivity benchmark. These advantages translate to users being able to complete workflows more quickly and multitask more easily. Whether you need the mobility of the Latitude 5440, the creative capabilities of the Precision 3470, or the high performance of the OptiPlex Tower Plus 7010, configuring your system with more RAM can help keep processes running smoothly, enabling you to do more without compromising performance.
Boost PC performance: How more available memory can improve productivity
Boost PC performance: How more available memory can improve productivity
Principled Technologies
How to get Oracle DBA Job as fresher.
Strategies for Landing an Oracle DBA Job as a Fresher
Strategies for Landing an Oracle DBA Job as a Fresher
Remote DBA Services
Copy of the slides presented by Matt Robison to the SFWelly Salesforce user group community on May 2 2024. The audience was truly international with attendees from at least 4 different countries joining online. Matt is an expert in data cloud and this was a brilliant session.
Data Cloud, More than a CDP by Matt Robison
Data Cloud, More than a CDP by Matt Robison
Anna Loughnan Colquhoun
In this session, we will delve into strategic approaches for optimizing knowledge management within Microsoft 365, amidst the evolving landscape of Copilot. From leveraging automatic metadata classification and permission governance with SharePoint Premium, to unlocking Viva Engage for the cultivation of knowledge and communities, you will gain actionable insights to bolster your organization's knowledge-sharing initiatives. In this session, we will also explore how to facilitate solutions to enable your employees to find answers and expertise within Microsoft 365. You will leave equipped with practical techniques and a deeper understanding of how there is more to effective knowledge management than just enabling Copilot, but building actual solutions to prepare the knowledge that Copilot and your employees can use.
Strategies for Unlocking Knowledge Management in Microsoft 365 in the Copilot...
Strategies for Unlocking Knowledge Management in Microsoft 365 in the Copilot...
Drew Madelung
Breathing New Life into MySQL Apps With Advanced Postgres Capabilities
🐬 The future of MySQL is Postgres 🐘
🐬 The future of MySQL is Postgres 🐘
RTylerCroy
Read about the journey the Adobe Experience Manager team has gone through in order to become and scale API-first throughout the organisation.
Scaling API-first – The story of a global engineering organization
Scaling API-first – The story of a global engineering organization
Radu Cotescu
Effective data discovery is crucial for maintaining compliance and mitigating risks in today's rapidly evolving privacy landscape. However, traditional manual approaches often struggle to keep pace with the growing volume and complexity of data. Join us for an insightful webinar where industry leaders from TrustArc and Privya will share their expertise on leveraging AI-powered solutions to revolutionize data discovery. You'll learn how to: - Effortlessly maintain a comprehensive, up-to-date data inventory - Harness code scanning insights to gain complete visibility into data flows leveraging the advantages of code scanning over DB scanning - Simplify compliance by leveraging Privya's integration with TrustArc - Implement proven strategies to mitigate third-party risks Our panel of experts will discuss real-world case studies and share practical strategies for overcoming common data discovery challenges. They'll also explore the latest trends and innovations in AI-driven data management, and how these technologies can help organizations stay ahead of the curve in an ever-changing privacy landscape.
TrustArc Webinar - Unlock the Power of AI-Driven Data Discovery
TrustArc Webinar - Unlock the Power of AI-Driven Data Discovery
TrustArc
Slides from the presentation on Machine Learning for the Arts & Humanities seminar at the University of Bologna (Digital Humanities and Digital Knowledge program)
Handwritten Text Recognition for manuscripts and early printed texts
Handwritten Text Recognition for manuscripts and early printed texts
Maria Levchenko
Recently uploaded
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The 7 Things I Know About Cyber Security After 25 Years | April 2024
The 7 Things I Know About Cyber Security After 25 Years | April 2024
Artificial Intelligence: Facts and Myths
Artificial Intelligence: Facts and Myths
Histor y of HAM Radio presentation slide
Histor y of HAM Radio presentation slide
Mastering MySQL Database Architecture: Deep Dive into MySQL Shell and MySQL R...
Mastering MySQL Database Architecture: Deep Dive into MySQL Shell and MySQL R...
Exploring the Future Potential of AI-Enabled Smartphone Processors
Exploring the Future Potential of AI-Enabled Smartphone Processors
Advantages of Hiring UIUX Design Service Providers for Your Business
Advantages of Hiring UIUX Design Service Providers for Your Business
How to Troubleshoot Apps for the Modern Connected Worker
How to Troubleshoot Apps for the Modern Connected Worker
GenAI Risks & Security Meetup 01052024.pdf
GenAI Risks & Security Meetup 01052024.pdf
ProductAnonymous-April2024-WinProductDiscovery-MelissaKlemke
ProductAnonymous-April2024-WinProductDiscovery-MelissaKlemke
Workshop - Best of Both Worlds_ Combine KG and Vector search for enhanced R...
Workshop - Best of Both Worlds_ Combine KG and Vector search for enhanced R...
A Domino Admins Adventures (Engage 2024)
A Domino Admins Adventures (Engage 2024)
TrustArc Webinar - Stay Ahead of US State Data Privacy Law Developments
TrustArc Webinar - Stay Ahead of US State Data Privacy Law Developments
Boost PC performance: How more available memory can improve productivity
Boost PC performance: How more available memory can improve productivity
Strategies for Landing an Oracle DBA Job as a Fresher
Strategies for Landing an Oracle DBA Job as a Fresher
Data Cloud, More than a CDP by Matt Robison
Data Cloud, More than a CDP by Matt Robison
Strategies for Unlocking Knowledge Management in Microsoft 365 in the Copilot...
Strategies for Unlocking Knowledge Management in Microsoft 365 in the Copilot...
🐬 The future of MySQL is Postgres 🐘
🐬 The future of MySQL is Postgres 🐘
Scaling API-first – The story of a global engineering organization
Scaling API-first – The story of a global engineering organization
TrustArc Webinar - Unlock the Power of AI-Driven Data Discovery
TrustArc Webinar - Unlock the Power of AI-Driven Data Discovery
Handwritten Text Recognition for manuscripts and early printed texts
Handwritten Text Recognition for manuscripts and early printed texts
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Alteration of chromosome
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Trisomy 21
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