Lecture5,6
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Many diseases are caused by genetic mutations. Over 4000 diseases are linked to altered genes, including heart disease, cancer, autoimmune disorders, and diabetes. Specific mutations are associated with certain cancers, such as mutations in the RB1 and BRCA1 genes which can lead to retinoblastoma and breast cancer respectively. Large-scale projects like the Cancer Genome Atlas and ENCODE project aim to catalogue all mutations in cancers and across the human genome. Immunogenetics research examines the genetic links to immune-related disorders. The HapMap and 1000 Genomes projects studied genetic variants and helped map human genetic diversity.
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For original ppt file, contact me at :
Instagram: _s_a_k_s_h_a_m_
Twitter: @_SakshamAgrawal
or mail me at saksham.agrawal512@gmail.com
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- Mutation is a change in the nucleotide sequence of an organism's genome. There are several types of mutations including substitution, insertion, deletion, and frameshift.
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- Several genetic disorders in humans are caused by chromosomal mutations, such as Down syndrome from trisomy 21, Edward's syndrome from trisomy 18, and Patau syndrome from trisomy 13. Other disorders involve the loss or gain of whole chromosomes or chromosome segments.
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Mitochondrial disorders overview
- Mitochondrial diseases are caused by mutations in mitochondrial DNA (mtDNA) and can affect multiple organ systems. They are characterized by failure of mitochondria to produce sufficient energy for cells.
- mtDNA is inherited solely from mothers and can be heteroplasmic, containing both mutated and normal mtDNA. This explains varying severity between mothers and children.
- The patient described presented with encephalopathy, lactic acidosis, strokes and other multi-system involvement consistent with a mitochondrial disorder. Whole mitochondrial genome sequencing detected a mtDNA deletion of unknown extent/genes involved.
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09 Lecture Ppt
- Gregor Mendel conducted experiments with pea plants in the 1860s and deduced the fundamental laws of inheritance.
- Through his experiments with traits like plant height, seed color and shape in pea plants, Mendel discovered that traits are passed from parents to offspring through discrete units he called factors, now known as genes.
- Mendel also discovered that these factors segregate and assort independently during the formation of gametes, allowing for predictable patterns of inheritance to emerge in subsequent generations based on dominant and recessive alleles.
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This document discusses sources of radiation exposure and their effects on human health. It notes that radiation has a limited capacity in the environment and that additional exposure increases risks of genetic defects, cancers, and stillbirths. Sources of radiation include medical procedures, nuclear weapons testing, nuclear reactor pollution, and radioactive waste. Chemical mutagens and carcinogens can also induce tumors and cancer and are defined as substances that cause abnormal cell growth. Examples are given of chemicals known to be carcinogenic to humans. The document explores effects of UV radiation from the sun on health like immune system deterioration and increased disease risk. It also notes UV light's ability to degrade materials like plastics.
Mitochondrial Disorder
Mitochondrial diseases are caused by defects in the mitochondria or mitochondrial genome. The mitochondria produce energy in cells through oxidative phosphorylation and have important roles in calcium regulation, apoptosis, and reactive oxygen species generation. Mitochondrial DNA mutations can cause a variety of clinical syndromes affecting high-energy tissues like brain, muscle, heart. Common syndromes include MELAS, MERRF, and Leigh syndrome. Diagnosis involves assessing clinical features, blood/CSF lactate levels, muscle biopsy showing ragged red fibers, and genetic testing. Treatment focuses on managing symptoms while avoiding metabolic stress.
Mt DNA
Mitochondrial DNA (mtDNA) is small, circular, double-stranded DNA located in cell mitochondria. It is maternally inherited and does not recombine. mtDNA contains 37 genes essential for mitochondrial function and ATP production through oxidative phosphorylation. Compared to nuclear DNA, mtDNA evolves more rapidly, lacks introns, and is not bound in histones. Forensic analysis of mtDNA is useful when evidence is degraded or limited. Methods include DNA extraction, PCR amplification of mtDNA regions, sequencing, and comparing sequences to identify matches or mismatches. mtDNA analysis has applications in fisheries including individual identification, mixed stock analysis, and determining phylogenetic relationships between fish species.
Mutagen
Mutagens are agents that cause mutations in genetic material. The first mutagens identified were carcinogens like x-rays and UV radiation in the 1920s. Mutagens can cause DNA damage through direct interaction, formation of reactive molecules, or incorporation into DNA. This damage may lead to mutations, chromosomal abnormalities, and potentially cancer. Common types of mutagens include physical agents, chemicals that react with DNA, base analogs, intercalating agents, metals, and some viruses and bacteria. Tests like the Ames test are used to identify potential mutagenic compounds.
Mitochondrial diseases
Mitochondrial diseases are caused by defects in mitochondrial structure or enzymes that result in deficient energy production. They can affect multiple organ systems and occur across all age groups. Mitochondrial DNA mutations can be inherited from the mother and nuclear DNA mutations can affect mitochondrial proteins or DNA maintenance. Common mitochondrial diseases include MELAS, MERRF, and Leigh syndrome. Mitochondrial dysfunction has also been implicated in aging and common diseases like heart disease and Parkinson's.
Mitochondrial dna
Mitochondrial DNA is circular DNA located in the mitochondria of cells. It is 16kb in size and encodes 37 genes. Mitochondrial DNA is only inherited from the mother and differs from nuclear DNA in several key ways, such as being maternally inherited only. Mutations in mitochondrial DNA can cause diseases often involving the central nervous system or musculoskeletal system. The high mutation rate of mitochondrial DNA is due to lack of protective histones and DNA repair mechanisms.
Mutation
This document discusses different types of mutations that can occur in DNA, including base changes, insertions/deletions of bases, frameshift mutations, and trinucleotide repeats. It provides examples of different mutations that cause conditions like sickle cell anemia, beta-thalassemia, Huntington's disease, and retinoblastoma. The key points are that mutations can be random changes to DNA that provide raw material for evolution, and they can occur in germ cells or somatic cells with different effects on inheritance and disease.
Mutation
Mutations are heritable changes in genetic material that can occur spontaneously or be induced. There are several types of mutations including point mutations, frameshift mutations, and translocations. Point mutations include transitions, transversions, insertions, and deletions. Frameshift mutations disrupt the reading frame and can result in abnormal or nonfunctional proteins. Mutations can be harmful, beneficial, or neutral depending on their effects. They provide the raw material for evolution by creating genetic variation.
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Genome Projects : Human, Rice,Wheat,E coli and Arabidopsis.
humangenomeproject-170217141511.pdf
The Human Genome Project was a 13-year international project that aimed to determine the complete DNA sequence of humans and map all of the genes. It was formally launched in 1990 and completed in 2003, mapping approximately 22,000 genes in humans. The project provided important insights into human genetics and has enabled significant advances in fields like medicine, agriculture, and forensics through applications like identifying disease-causing genes and genetically modifying crops.
Human genome project by M.Sohail Riaz Hashmi
Human Genome Project (HGP)
Main objectives Human Genome Project (HGP)
Goals for the HGP
Medical Implications
Applications of HGP
Timeline of HGP
Technical aspects in HGP
Mapping strategies
Sequencing strategies
. Shotgun sequencing method
Sanger sequencing method
Outcomes of HGP
Genomics and Plant Genomics
Genomics refers to the study of the entire genome of an organism. It deals with mapping genes on chromosomes and sequencing entire genomes. While work on genomics began with prokaryotes like bacteria, research has now been conducted on crop plants like rice and Arabidopsis thaliana. Genomics is an interdisciplinary field that uses tools from molecular biology, robotics, and computing to study genomes. It provides information on genome size, gene number, gene function, and evolution. Genomics has applications in crop improvement through gene mapping, marker-assisted selection, and transgenic breeding. However, genomic research also faces limitations due to high costs, technical challenges, and complexity of traits.
Genomics
Genomics is the study of whole genomes. In the 1980s, scientists determined sequences of important genes. In the 1990s, the genome of H. influenzae was fully sequenced. The Human Genome Project, begun in 1990, fully sequenced the human genome ahead of schedule in 2003. The human genome contains 3.2 billion DNA base pairs and 30,000-40,000 genes. While genomics provides medical benefits, it also raises safety, ethical, and privacy concerns that remain open questions.
Describe in your own words the benefits, but also the problems of ha.pdf
Describe in your own words the benefits, but also the problems of having the human genome
deciphered. Write several paragraphs.
Solution
The history of the human race has been filled with curiosity and discovery about our abilities and
limitations. As an egotistical creature with a seemingly unstoppable desire for new
accomplishments, we attempt feats with emotion and tenacity. People worldwide raced to be the
first to discover the secrets and the ability of flight. Enormous amounts of monies were spent on
sending people into space and the race to land on the moon. With the rapid growth of scientific
knowledge and experimental methods, humans have begun to unravel and challenge another
mystery, the discovery of the entire genetic make-up of the human body.
This endeavor, the Human Genome Project (HGP), has created hopes and expectations about
better health care. It has also brought forth serious social issues. To understand the potential
positive and negative issues, we must first understand the history and technical aspects of the
HGP.
History of the Human Genome Project
The HGP has an ultimate goal of identifying and locating the positions of all genes in the human
body. A researcher named Renato Dulbecco first suggested the idea of such a project while the
U.S. Department of Energy (DOE) was also considering the same project because issues related
to radiation and chemical exposure were being raised. Military and civilian populations were
being exposed to radiation and possible carcinogenic chemicals through atomic testing, the use
of Agent Orange in Vietnam, and possible nuclear power facility accidents. Genetic knowledge
was needed to determine the resiliency of the human genome.
Worldwide discussion about a HGP began in 1985. In 1986, the DOE announced its\' Human
Genome Initiative which emphasized the development of resources and technologies for genome
mapping, sequencing, computation, and infrastructure support that would lead to the entire
human genome map. United States involvement began in October 1990 and was coordinated by
the DOE and the National Institute of Health (NIH). With an estimated cost of 3 billion dollars,
sources of funding also include the National Science Foundation (NSF) and the Howard Hughes
Medical Institute (HHMI). Because of the involvement of the NIH, DOE, and NSF who receive
U.S. Congressional funding, the HGP is partly funded through federal tax dollars. Expected to
last 15 years, technological advancements have accelerated the expected date of completion to
the year 2003. This completion date would coincide with the 50th anniversary of Watson and
Crick\'s description of the structure of DNA molecule.
Human Genome Project Goals
The specific goals of the HGP are to::
Technical Aspects of the HGP
Mapping Strategies
To sequence the human genome, maps are needed. Physical maps are a series of overlapping
pieces of DNA isolated in bacteria. Physical maps are used to describe the DNA\'s chemical
characteristics..
DNA recombinant technology on insulin modification
This document provides information on various biotechnology tools and techniques, including:
- Restriction enzymes, gel electrophoresis, PCR, vectors, gene libraries, and DNA sequencing which were used in the Human Genome Project to map the human genome.
- Genetic engineering techniques like DNA cloning, transformation, and applications like disease diagnosis, gene therapy, and GMOs.
- Stem cell types and their potential medical uses.
- Genome sizes of various organisms and comparisons.
- Advantages and disadvantages of genetic modification in plants, animals, and medicine.
Arabidopsis thaliana genome project
Arabidopsis thaliana was the very first plant whose genome was sequenced by the Arabidopsis Initiative (AGI) in the year 1966-2000. mouse ear cress has been the plant model ever since 1985.
Update version of the SMBE/SESBE Lecture on ENCODE & junk DNA (Graur, Decembe...
The document discusses the history of understanding the human genome from 1998 to present. It describes how early estimates of the number of human genes ranged widely, from 25,000 to over 200,000. The first draft of the human genome was completed in 2001. By 2004, the estimated number of protein-coding genes had dropped to under 25,000. The document also criticizes the ENCODE project's 2012 conclusion that 80% of the human genome is functional, noting issues with their experimental methods and analyses.
Modern Biotechnology
This presentation will give you an in-depth look at modern techniques and appliations of biotechnology. It will get you thinking about the potential for biotechnology to change your lives in the future. Please take Cornell Notes on the following slides.
Ibo Galindo - 'Neuropatías periféricas hereditarias'
Los días 11 y 12 de diciembre de 2014, la Fundación Ramón Areces celebró el Simposio Internacional 'Neuropatías periféricas hereditarias. Desde la biología a la terapéutica' en colaboración con CIBERER-ISCIII y el Centro de Investigación Príncipe Felipe. El tipo más común de estas patologías es la enfermedad de Charcot-Marie-Tooth, un trastorno neuromuscular hereditario con una prevalencia estimada de 17-40 afectados por 100.000 habitantes. Durante estos dos días, investigadores mostraron sus avances en la mejora del diagnóstico y el tratamiento y, por ende, de la aproximación clínica y la calidad de vida de las personas afectadas por estas patologías.
Genomics
this is done by me and my team mates of Wayamba University Sri Lanka for our project.From now we decided to allow download this file.I would be greatful if you could send your comments..
And I'm willing to help you in similar works.I'm in final year of my degree(.BSc Biotechnology)..
pubudu_gokarella@yahoo.com
Sharing the trail : Inspiring your students through GenOmics and other Social...
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Human genome project (2) converted
The Human Genome Project was an international scientific research project with the goal of determining the sequence of nucleotide base pairs that make up human DNA. It originally aimed to map the over three billion nucleotides contained in the human genome. The finished human genome is a mosaic assembled from sequencing a small number of individuals. The project has provided insights into human genetics and disease research.
Comparative genomics and proteomics
Comparative proteogenomics using mass spectrometry data from multiple genomes can address problems that a single genome approach cannot. It helps identify rare post-translational modifications, resolve "one-hit wonders" by looking for correlated peptides in orthologous proteins across species, and identify programmed frameshifts and sequencing errors. The approach is demonstrated through an analysis of mass spectrometry data from three Shewanella bacteria genomes, improving gene predictions and annotations compared to existing tools.
"The Quest for A field Guide to the Microbes" talk by Jonathan Eisen February...
The document discusses the author's quest to create a field guide to microbes. It describes the challenges in doing so given microbes' small size and high diversity. The author discusses using DNA sequencing and phylogenetic trees to identify microbes and determine their functions and relationships. Examples are given of using DNA to study human microbiomes, forensic analysis, and microbial communities. The need for a comprehensive field guide is argued to better understand the roles and identification of microbes.
Bioengineering custom microbes, genetic engineering,bioremediation,bioprocess...
Bioengineering is an interdisciplinary field that applies engineering principles to biology. It involves using tools and principles of engineering to analyze and synthesize biological systems. Some key areas of bioengineering include genetic engineering, biomedical engineering, bioprocess engineering, and bioinformatics. Genetic engineering has led to the production of important recombinant proteins and vaccines through the use of recombinant DNA technology. This document provides examples of insulin, growth hormone, interferon, and vaccines being produced through genetic engineering techniques.
The human genome project was started in 1990 with the goal of sequencing and ...
The Human Genome Project was a 13-year effort that began in 1990 with the goal of sequencing the entire human genome and identifying all of the genes in order to better understand genetic diseases and develop new treatments. It involved mapping the genome by identifying genetic markers and then sequencing DNA using techniques like cloning and polymerase chain reaction to amplify DNA for analysis. The project was completed in 2003, earlier than expected due to advances in sequencing technology, providing a full sequence of the human genome.
Similar to Lecture5,6 (20)
Genome Projects : Human, Rice,Wheat,E coli and Arabidopsis.
Genome Projects : Human, Rice,Wheat,E coli and Arabidopsis.
Describe in your own words the benefits, but also the problems of ha.pdf
Describe in your own words the benefits, but also the problems of ha.pdf
DNA recombinant technology on insulin modification
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This document summarizes information from several genomics and bioinformatics research groups and projects. It discusses:
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Syllabus
Chapter-1
Introduction to objective, scope and outcome the subject
Chapter 2
Introduction: Scope and Specialization of Civil Engineering, Role of civil Engineer in Society, Impact of infrastructural development on economy of country.
Chapter 3
Surveying: Object Principles & Types of Surveying; Site Plans, Plans & Maps; Scales & Unit of different Measurements.
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Chapter 6
Environmental Engineering: Environmental Pollution, Environmental Acts and Regulations, Functional Concepts of Ecology, Basics of Species, Biodiversity, Ecosystem, Hydrological Cycle; Chemical Cycles: Carbon, Nitrogen & Phosphorus; Energy Flow in Ecosystems.
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2. Satheesh Gopi, Basic Civil Engineering, Pearson Publishers.
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For Upcoming Meetups Join Mysore Meetup Group - https://meetups.mulesoft.com/mysore/YouTube:- youtube.com/@mulesoftmysore
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Lecture5,6
- 1. Sucheta Tripathy, IICB, 15th Dec 2012
- 2. Mutation and disease Many of the diseases occur because of mutation 4000 diseases have altered gene. Heart disease Cancer Auto immune disorders Diabetes
- 9. Cancer Genetics RB1 mutation leads to Retinoblastoma. BRCA1 mutation is linked with breast cancer.
- 10. The Cancer Genome Atlas Project to catalogue all mutations in cancer (2005). Glioblastoma Ovarian cancer Lung cancer Gene Expression Profiling Copy number variation SNP Genotyping Genome wide DNA methylation MicroRNA Exome sequencing
- 11. Immunogenetics Genetic link leading to Immune related dis-orders. Father of Immuno Genetics is Edward Jenner. In year 1796 predicted human smallpox can be treated with cowpox. Multiple Sclerosis Type-1 Diabetes Rheumatoid arthritis. Ref: http://www.idi.harvard.edu/uploads/investigators/Immunogenetics- coi.pdf
- 12. IMGT
- 13. IMGT
- 14. Human Genome Project NHGRI Solicited RFAs were First pilot sought for Publicati proposal for full on in ENCODE ENCODE 2000 In October GWAS - Finished 90% lies First Report 1990 Human ENCODE paper in outside on Encode Genome coding published 2003 Published in project started 2005 2012 2007
- 15. Genome Mapping What does it mean? Mapping multiple variation of the same gene. HapMap Project: Mapping Haplotype of human genome Genetic variants affecting health Disease and Environme response to ntal Effects drugs
- 16. HapMap Project • To study the effect of environment and their effects on diseases. • 99.5% DNA are similar. • 269 individuals genotype. • One million SNPs genotyped – Rose to 10 million including polymorphic sites. http://en.wikipedia.org/wiki/International_HapMap_Project
- 17. What we knew • 95% of the genome is “junk”. – 2.94% of the genome is coding • cis regulatory elements occur within a limited genome distance. • Most of the genome is transposable elements that are of obscure origin are dying. • Transcribed elements are most often translated than not.
- 18. 1000 genomes project Copy Number Variation SNPs Indels http://en.wikipedia.org/wiki/1000_Genomes_Project Yoruba in Ibadan, Nigeria; Japanese in Tokyo; Chinese in Beijing; Utah residents with ancestry from northern and western Europe; Luhya in Webuye, Kenya; Maasai in Kinyawa, Kenya; Toscani in Italy; Peruvians in Perú; Gujarati Indians in Houston; Chinese in metropolitan Denver; people of Mexican ancestry in Los Angeles
- 19. HapMap Project SNPs occurring at least 1% of the population. If a SNP in one site is known, then the SNP in the nearest site can be identified.
- 20. Reference http://www.nature.com/ejhg/journal/v21/n1/full/ejhg2 01169a.html http://nar.oxfordjournals.org/content/34/suppl_1/D78 1.full