This document discusses genetic disorders, including:
- Genetic disorders are caused by abnormalities in DNA and genes, and can be heritable or non-heritable.
- There are three main types of genetic disorders - single gene, chromosomal, and multifactorial. Examples are provided for each type, including cystic fibrosis, Down syndrome, and Alzheimer's disease.
- The history of understanding genetic disorders is explored, from Mendel's work in genetics to modern discoveries like the structure of DNA and genetic coding. Classification and examples of different genetic disorders are provided.
This document discusses genetic disorders, including:
1. It defines genetic disorders as illnesses caused by abnormalities in the genome from birth. Most are rare.
2. It classifies genetic disorders into single gene disorders, chromosomal disorders, and multifactorial disorders.
3. Examples of each type are provided, such as cystic fibrosis, Down syndrome, and Alzheimer's disease. Specific details are given about the genetic basis and symptoms of some examples.
Genetic disorders are caused by abnormalities in DNA, including single gene mutations, chromosomal abnormalities, and interactions between genes and environment. Common genetic disorders include cystic fibrosis, sickle cell anemia, Down syndrome, Turner syndrome, and Williams syndrome. Gene therapy aims to treat genetic disorders by inserting functional genes to replace non-functional ones, but faces challenges such as immune responses, maintaining gene expression over time, and unintended effects on other genes. Future applications may include preventing inheritance of genetic diseases and customizing stem cells, but ethical issues around germline editing remain.
genetic disease by suraj tekam msc 2nd sem.stekam766
Genetic diseases are caused by abnormalities in genes or chromosomes. Some key points:
- Genetic diseases can be single gene disorders from mutations in one gene, chromosomal disorders from changes to entire chromosomes, or multifactorial disorders influenced by multiple genes and environment.
- Examples of single gene disorders include cystic fibrosis, galactosemia, sickle cell disease. Chromosomal disorders include Down syndrome and Turner syndrome. Multifactorial disorders include Alzheimer's disease.
- Genetic diseases can affect many body systems and have a variety of symptoms, from intellectual disabilities to organ failures. Many are rare but have serious health impacts. Understanding the genetic causes is improving diagnosis and treatment.
Genetic disorders can be caused by changes in individual genes or chromosomes. Changes in a gene's DNA sequence can alter proteins and affect phenotypes. Sickle cell disease is caused by a defective allele that makes hemoglobin less soluble, causing red blood cells to take on a sickle shape. Cystic fibrosis is usually caused by the deletion of three DNA bases, causing a protein to fold improperly and preventing chloride transport. Huntington's disease involves a dominant allele with an abnormal number of repeats of the codon CAG, coding for glutamine. Chromosomal disorders can result from errors in meiosis like nondisjunction, leading to an abnormal number of chromosomes and conditions like Down syndrome, Turner syndrome, or Klinefelter syndrome.
This document discusses human genetic disorders. It begins with an introduction to genes and genetics. It then defines genetic disorders as diseases caused by abnormalities in DNA, including point mutations or changes to entire chromosomes. The document outlines the history of genetics research. It describes several types of genetic disorders including single gene, multifactorial, chromosomal, and mitochondrial disorders. Specific genetic disorders are then discussed as examples, including galactosemia, Alzheimer's disease, sickle cell anemia, Huntington's disease, and Down syndrome. The document concludes with some references used in its preparation.
This document provides an overview of genetic disorders. It begins with an introduction defining genetic disorders and discussing their inheritance patterns. The history of genetics research is then summarized, from Mendel's work in 1866 to the mapping of the human genome in the 1990s. The document discusses several types of genetic disorders including single gene, multifactorial, chromosomal, and mitochondrial disorders. Numerous specific genetic disorders are then described in detail such as cystic fibrosis, Huntington's disease, phenylketonuria, sickle cell disease, and more.
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.
This document discusses genetic diseases, including their causes and transmission patterns. It covers several key points:
1) Genetic diseases can be inherited from parents or caused by mutations in somatic cells. They include disorders caused by single gene mutations as well as chromosomal abnormalities.
2) Single gene mutations include point mutations and frameshifts, and can cause diseases like cystic fibrosis or phenylketonuria. These mutations may be dominant or recessive.
3) Chromosomal abnormalities include changes in number, like trisomies, or structure, like translocations. They can cause conditions such as Down syndrome. Chromosomal imbalances are generally more severe than single gene mutations.
This document discusses genetic disorders, including:
1. It defines genetic disorders as illnesses caused by abnormalities in the genome from birth. Most are rare.
2. It classifies genetic disorders into single gene disorders, chromosomal disorders, and multifactorial disorders.
3. Examples of each type are provided, such as cystic fibrosis, Down syndrome, and Alzheimer's disease. Specific details are given about the genetic basis and symptoms of some examples.
Genetic disorders are caused by abnormalities in DNA, including single gene mutations, chromosomal abnormalities, and interactions between genes and environment. Common genetic disorders include cystic fibrosis, sickle cell anemia, Down syndrome, Turner syndrome, and Williams syndrome. Gene therapy aims to treat genetic disorders by inserting functional genes to replace non-functional ones, but faces challenges such as immune responses, maintaining gene expression over time, and unintended effects on other genes. Future applications may include preventing inheritance of genetic diseases and customizing stem cells, but ethical issues around germline editing remain.
genetic disease by suraj tekam msc 2nd sem.stekam766
Genetic diseases are caused by abnormalities in genes or chromosomes. Some key points:
- Genetic diseases can be single gene disorders from mutations in one gene, chromosomal disorders from changes to entire chromosomes, or multifactorial disorders influenced by multiple genes and environment.
- Examples of single gene disorders include cystic fibrosis, galactosemia, sickle cell disease. Chromosomal disorders include Down syndrome and Turner syndrome. Multifactorial disorders include Alzheimer's disease.
- Genetic diseases can affect many body systems and have a variety of symptoms, from intellectual disabilities to organ failures. Many are rare but have serious health impacts. Understanding the genetic causes is improving diagnosis and treatment.
Genetic disorders can be caused by changes in individual genes or chromosomes. Changes in a gene's DNA sequence can alter proteins and affect phenotypes. Sickle cell disease is caused by a defective allele that makes hemoglobin less soluble, causing red blood cells to take on a sickle shape. Cystic fibrosis is usually caused by the deletion of three DNA bases, causing a protein to fold improperly and preventing chloride transport. Huntington's disease involves a dominant allele with an abnormal number of repeats of the codon CAG, coding for glutamine. Chromosomal disorders can result from errors in meiosis like nondisjunction, leading to an abnormal number of chromosomes and conditions like Down syndrome, Turner syndrome, or Klinefelter syndrome.
This document discusses human genetic disorders. It begins with an introduction to genes and genetics. It then defines genetic disorders as diseases caused by abnormalities in DNA, including point mutations or changes to entire chromosomes. The document outlines the history of genetics research. It describes several types of genetic disorders including single gene, multifactorial, chromosomal, and mitochondrial disorders. Specific genetic disorders are then discussed as examples, including galactosemia, Alzheimer's disease, sickle cell anemia, Huntington's disease, and Down syndrome. The document concludes with some references used in its preparation.
This document provides an overview of genetic disorders. It begins with an introduction defining genetic disorders and discussing their inheritance patterns. The history of genetics research is then summarized, from Mendel's work in 1866 to the mapping of the human genome in the 1990s. The document discusses several types of genetic disorders including single gene, multifactorial, chromosomal, and mitochondrial disorders. Numerous specific genetic disorders are then described in detail such as cystic fibrosis, Huntington's disease, phenylketonuria, sickle cell disease, and more.
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.
This document discusses genetic diseases, including their causes and transmission patterns. It covers several key points:
1) Genetic diseases can be inherited from parents or caused by mutations in somatic cells. They include disorders caused by single gene mutations as well as chromosomal abnormalities.
2) Single gene mutations include point mutations and frameshifts, and can cause diseases like cystic fibrosis or phenylketonuria. These mutations may be dominant or recessive.
3) Chromosomal abnormalities include changes in number, like trisomies, or structure, like translocations. They can cause conditions such as Down syndrome. Chromosomal imbalances are generally more severe than single gene mutations.
Single gene disorders can be inherited in three main patterns: autosomal dominant, autosomal recessive, or X-linked. Autosomal dominant disorders only require one copy of the abnormal gene and affect both males and females. Autosomal recessive disorders require two copies of the abnormal gene and typically do not affect the parents. X-linked disorders are sex-linked and are more commonly seen in males than females. Examples of single gene disorders provided include sickle cell disease, cystic fibrosis, Tay-Sachs disease, and phenylketonuria.
Single gene disorders can be inherited in three main patterns: autosomal dominant, autosomal recessive, or X-linked. Autosomal dominant disorders only require one copy of the abnormal gene and affect both males and females. Autosomal recessive disorders require two copies of the abnormal gene and typically have unaffected parents. X-linked disorders are sex-linked and mainly affect males, with carrier females sometimes showing mild symptoms. Examples provided include sickle cell disease, cystic fibrosis, Tay-Sachs disease, and phenylketonuria.
Genetic epidemiology, classification of Genetic Disorder, factor causing gene...Mohan Bastola
Genetic epidemiology, classification of Genetic Disorder, factor causing genetic abnormalities, difference between congenital and teratogenic abnormalities and prevention of genetic diseases
This presentation is fetures the basic introduction to Genome mosaicism in humans and nature, with some examples of its harmful effects on humans, with
This document provides an overview of genetic disorders, including:
- Genetic disorders can be caused by abnormalities in a single gene (single-gene disorders), chromosomes (chromosomal disorders), or multiple factors (multifactorial disorders).
- Single-gene disorders include autosomal dominant disorders, where one copy of an abnormal gene causes disease, autosomal recessive disorders, which require two copies to cause disease, and X-linked disorders, which mainly affect males.
- Examples of genetic disorders discussed include sickle cell disease, cystic fibrosis, Tay-Sachs disease, and phenylketonuria.
- Autosomal dominant, recessive, and X-linked disorders are described in terms
Genetic disorders can be caused by abnormalities in a single gene (single gene disorders), chromosomes (chromosomal disorders), or multiple factors (multifactorial disorders). Single gene disorders follow patterns of inheritance such as autosomal dominant, autosomal recessive, or X-linked. Autosomal dominant disorders affect both males and females and there is a 50% chance of passing the disorder to offspring. Autosomal recessive disorders occur when both alleles are mutated and siblings have a 25% chance of being affected. Examples of autosomal recessive disorders include sickle cell disease and cystic fibrosis. X-linked disorders mainly affect males and are more likely to be passed from mother to children than father to children.
This document discusses genetic disorders and their classification. It begins by defining genetic disorders and explaining their inheritance patterns. The main classifications discussed are single gene disorders, chromosomal disorders, and multifactorial disorders. Single gene disorders can be autosomal dominant, autosomal recessive, or X-linked. Autosomal dominant disorders affect both sexes and have a 50% chance of being passed to each child. Autosomal recessive disorders require mutations on both alleles and siblings have a 25% chance of being affected. Examples like sickle cell disease and cystic fibrosis are provided. X-linked disorders mainly affect males and transmission chances differ between sexes.
Single gene disorders can be inherited in three main patterns: autosomal dominant, autosomal recessive, and X-linked. Autosomal dominant disorders only require one copy of the abnormal gene and affect both males and females. Autosomal recessive disorders require two copies of the abnormal gene and typically have asymptomatic parents. X-linked disorders are sex-linked and more often affect males than females. Examples of single gene disorders provided are sickle cell disease, cystic fibrosis, Tay-Sachs disease, and phenylketonuria.
This document discusses different types of genetic disorders including single gene disorders, chromosomal disorders, and multifactorial disorders. It focuses on single gene disorders which can be autosomal dominant, autosomal recessive, or X-linked. Autosomal dominant disorders affect both males and females and there is a 50% chance of passing the disorder to offspring. Autosomal recessive disorders do not usually affect the parents but there is a 25% chance of siblings being affected. Examples of autosomal recessive disorders provided are sickle cell disease, cystic fibrosis, and Tay-Sachs disease. X-linked disorders mainly affect males and are more likely to be passed from mother to children than father to children.
This document discusses genetics and genetic disorders. It begins by defining genetics and describing early discoveries in genetics research. It then discusses the prevalence of genetic birth defects worldwide and in India. Several genetic disorders are described in more detail, including Down syndrome, neural tube defects, sickle cell anemia, and thalassemia. For each disorder, the document outlines causes and inheritance patterns, symptoms, prevalence, and treatment options. Throughout, it emphasizes the public health importance of understanding genetics and genetic disorders.
This document provides information on embryology and gametogenesis. It defines key terms like oocyte, zygote, morula, blastocyst and discusses early embryonic development from fertilization through implantation and formation of the germ layers. It also describes meiosis and gamete formation, comparing oocytes and sperm. Additionally, it covers cell signaling pathways important for development and lists some common chromosomal abnormalities in humans.
Types of chromosomes and special forms of chromosomesdhanamram
This document discusses different types of chromosomes, including autosomes, allosomes, giant chromosomes, and various chromosomal abnormalities. It describes:
- The 44 autosomes that contain non-sex genetic information in humans. Common abnormalities like Down syndrome involve irregularities with autosome 21.
- The two allosomes (sex chromosomes) in humans - XX in females and XY in males. Conditions like Turner syndrome, Triple X syndrome, and Klinefelter syndrome involve atypical sex chromosome combinations.
- Giant chromosomes called polytene chromosomes and lampbrush chromosomes that are found in certain tissues of some organisms and have unique structures.
This document defines genetic disorders and describes different types of genetic inheritance patterns. It discusses single gene disorders that can be dominant or recessive. It also describes chromosomal abnormalities like Down syndrome which results from an extra copy of chromosome 21. Multifactorial inheritance is explained as conditions caused by both genetic and environmental factors, like heart disease. Mitochondrial disorders are outlined as affecting mitochondrial DNA and being maternally inherited. Chromosome disorders are defined as changes in chromosome number or structure.
Chromosomal abnormalities can cause genetic disorders by changing the number or structure of chromosomes. Some abnormalities are caused by changes in the number of sex chromosomes, such as Turner syndrome (XO) in females which causes short stature and infertility. Klinefelter syndrome (XXY) in males results in breast development and infertility. Fragile X syndrome, the most common inherited cause of intellectual disability, is caused by a trinucleotide repeat expansion in the FMR1 gene on the X chromosome.
This document discusses genetic disorders and provides information on the following topics:
1. It defines genetic disorders and differentiates between genetic and congenital disorders.
2. It discusses various genetic concepts including trisomy, monosomy, polysomy, and aneuploidy.
3. It describes several specific genetic disorders including Down syndrome, Turner syndrome, and Klinefelter syndrome providing details on their causes and clinical manifestations.
This document discusses genetic development from conception through the prenatal period in 3 main sections:
1. It describes the basic components of DNA, chromosomes, genes and how genetic material is inherited from parents during conception.
2. It explains genetic variations that occur naturally between individuals as well as commonalities, including an overview of twin types.
3. It outlines the 3 main periods of prenatal development from the zygote stage through implantation and the establishment of basic body structures in the embryonic period.
Chromosomal abnormalities are genetic variations involving changes in chromosome number or structure. They can be numerical, involving extra or missing chromosomes, or structural, with changes like deletions or duplications. Some common examples are Down syndrome, which involves an extra copy of chromosome 21, and Turner syndrome, where one X chromosome is missing. Chromosomal abnormalities are caused by errors in cell division and some risks increase with parental age. While they often cause physical and cognitive impairments, many people live full lives with proper management of symptoms.
Mutation refers to changes in the nucleotide sequence of an organism's genome. There are several types of mutations, including substitutions, insertions, deletions, inversions, and frameshifts. Mutations can be inherited from parents or acquired during an individual's lifetime from environmental mutagens like radiation, chemicals, or viruses. Common genetic disorders caused by mutations include Down syndrome, Edwards syndrome, Patau syndrome, and others involving aneuploidies or abnormalities of specific chromosomes.
Human genetics and heredity can now be studied with greater understanding thanks to advances like the Human Genome Project. The project mapped all human DNA which contains around 31,000 genes packed into the 46 chromosomes in every human cell. This has led to insights into inherited traits and diseases, new genetic tests, and holds promise for gene therapy to treat conditions. However, the power of genetic knowledge also raises ethical issues society must address around manipulating the human genome.
The document summarizes lipid digestion and absorption. It describes how lipids are broken down in the mouth, stomach and small intestine by lingual, gastric and pancreatic lipases. Bile salts emulsify lipids into micelles in the small intestine to aid digestion by pancreatic lipase. This breaks triglycerides down into fatty acids and glycerol. Fatty acids and monoglycerides are absorbed via micelles in the small intestine. The liver plays a key role in recycling bile salts through enterohepatic circulation to aid continuous fat digestion and absorption.
The electron transport chain (ETC) transfers electrons from electron donors like NADH to electron acceptors like oxygen via redox reactions. This creates a proton gradient across the inner mitochondrial membrane, which drives the synthesis of ATP. The ETC consists of four complexes - I, II, III, and IV - located in the inner mitochondrial membrane. As electrons pass from one complex to the next, protons are pumped from the matrix to the intermembrane space. Complex I oxidizes NADH, Complex II oxidizes FADH2, and Complexes III and IV pass electrons to oxygen to produce water. The proton gradient powers ATP synthase to phosphorylate ADP to ATP, providing energy for cellular work.
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Similar to geneticdisorder-140629023553-phpapp02.pdf
Single gene disorders can be inherited in three main patterns: autosomal dominant, autosomal recessive, or X-linked. Autosomal dominant disorders only require one copy of the abnormal gene and affect both males and females. Autosomal recessive disorders require two copies of the abnormal gene and typically do not affect the parents. X-linked disorders are sex-linked and are more commonly seen in males than females. Examples of single gene disorders provided include sickle cell disease, cystic fibrosis, Tay-Sachs disease, and phenylketonuria.
Single gene disorders can be inherited in three main patterns: autosomal dominant, autosomal recessive, or X-linked. Autosomal dominant disorders only require one copy of the abnormal gene and affect both males and females. Autosomal recessive disorders require two copies of the abnormal gene and typically have unaffected parents. X-linked disorders are sex-linked and mainly affect males, with carrier females sometimes showing mild symptoms. Examples provided include sickle cell disease, cystic fibrosis, Tay-Sachs disease, and phenylketonuria.
Genetic epidemiology, classification of Genetic Disorder, factor causing gene...Mohan Bastola
Genetic epidemiology, classification of Genetic Disorder, factor causing genetic abnormalities, difference between congenital and teratogenic abnormalities and prevention of genetic diseases
This presentation is fetures the basic introduction to Genome mosaicism in humans and nature, with some examples of its harmful effects on humans, with
This document provides an overview of genetic disorders, including:
- Genetic disorders can be caused by abnormalities in a single gene (single-gene disorders), chromosomes (chromosomal disorders), or multiple factors (multifactorial disorders).
- Single-gene disorders include autosomal dominant disorders, where one copy of an abnormal gene causes disease, autosomal recessive disorders, which require two copies to cause disease, and X-linked disorders, which mainly affect males.
- Examples of genetic disorders discussed include sickle cell disease, cystic fibrosis, Tay-Sachs disease, and phenylketonuria.
- Autosomal dominant, recessive, and X-linked disorders are described in terms
Genetic disorders can be caused by abnormalities in a single gene (single gene disorders), chromosomes (chromosomal disorders), or multiple factors (multifactorial disorders). Single gene disorders follow patterns of inheritance such as autosomal dominant, autosomal recessive, or X-linked. Autosomal dominant disorders affect both males and females and there is a 50% chance of passing the disorder to offspring. Autosomal recessive disorders occur when both alleles are mutated and siblings have a 25% chance of being affected. Examples of autosomal recessive disorders include sickle cell disease and cystic fibrosis. X-linked disorders mainly affect males and are more likely to be passed from mother to children than father to children.
This document discusses genetic disorders and their classification. It begins by defining genetic disorders and explaining their inheritance patterns. The main classifications discussed are single gene disorders, chromosomal disorders, and multifactorial disorders. Single gene disorders can be autosomal dominant, autosomal recessive, or X-linked. Autosomal dominant disorders affect both sexes and have a 50% chance of being passed to each child. Autosomal recessive disorders require mutations on both alleles and siblings have a 25% chance of being affected. Examples like sickle cell disease and cystic fibrosis are provided. X-linked disorders mainly affect males and transmission chances differ between sexes.
Single gene disorders can be inherited in three main patterns: autosomal dominant, autosomal recessive, and X-linked. Autosomal dominant disorders only require one copy of the abnormal gene and affect both males and females. Autosomal recessive disorders require two copies of the abnormal gene and typically have asymptomatic parents. X-linked disorders are sex-linked and more often affect males than females. Examples of single gene disorders provided are sickle cell disease, cystic fibrosis, Tay-Sachs disease, and phenylketonuria.
This document discusses different types of genetic disorders including single gene disorders, chromosomal disorders, and multifactorial disorders. It focuses on single gene disorders which can be autosomal dominant, autosomal recessive, or X-linked. Autosomal dominant disorders affect both males and females and there is a 50% chance of passing the disorder to offspring. Autosomal recessive disorders do not usually affect the parents but there is a 25% chance of siblings being affected. Examples of autosomal recessive disorders provided are sickle cell disease, cystic fibrosis, and Tay-Sachs disease. X-linked disorders mainly affect males and are more likely to be passed from mother to children than father to children.
This document discusses genetics and genetic disorders. It begins by defining genetics and describing early discoveries in genetics research. It then discusses the prevalence of genetic birth defects worldwide and in India. Several genetic disorders are described in more detail, including Down syndrome, neural tube defects, sickle cell anemia, and thalassemia. For each disorder, the document outlines causes and inheritance patterns, symptoms, prevalence, and treatment options. Throughout, it emphasizes the public health importance of understanding genetics and genetic disorders.
This document provides information on embryology and gametogenesis. It defines key terms like oocyte, zygote, morula, blastocyst and discusses early embryonic development from fertilization through implantation and formation of the germ layers. It also describes meiosis and gamete formation, comparing oocytes and sperm. Additionally, it covers cell signaling pathways important for development and lists some common chromosomal abnormalities in humans.
Types of chromosomes and special forms of chromosomesdhanamram
This document discusses different types of chromosomes, including autosomes, allosomes, giant chromosomes, and various chromosomal abnormalities. It describes:
- The 44 autosomes that contain non-sex genetic information in humans. Common abnormalities like Down syndrome involve irregularities with autosome 21.
- The two allosomes (sex chromosomes) in humans - XX in females and XY in males. Conditions like Turner syndrome, Triple X syndrome, and Klinefelter syndrome involve atypical sex chromosome combinations.
- Giant chromosomes called polytene chromosomes and lampbrush chromosomes that are found in certain tissues of some organisms and have unique structures.
This document defines genetic disorders and describes different types of genetic inheritance patterns. It discusses single gene disorders that can be dominant or recessive. It also describes chromosomal abnormalities like Down syndrome which results from an extra copy of chromosome 21. Multifactorial inheritance is explained as conditions caused by both genetic and environmental factors, like heart disease. Mitochondrial disorders are outlined as affecting mitochondrial DNA and being maternally inherited. Chromosome disorders are defined as changes in chromosome number or structure.
Chromosomal abnormalities can cause genetic disorders by changing the number or structure of chromosomes. Some abnormalities are caused by changes in the number of sex chromosomes, such as Turner syndrome (XO) in females which causes short stature and infertility. Klinefelter syndrome (XXY) in males results in breast development and infertility. Fragile X syndrome, the most common inherited cause of intellectual disability, is caused by a trinucleotide repeat expansion in the FMR1 gene on the X chromosome.
This document discusses genetic disorders and provides information on the following topics:
1. It defines genetic disorders and differentiates between genetic and congenital disorders.
2. It discusses various genetic concepts including trisomy, monosomy, polysomy, and aneuploidy.
3. It describes several specific genetic disorders including Down syndrome, Turner syndrome, and Klinefelter syndrome providing details on their causes and clinical manifestations.
This document discusses genetic development from conception through the prenatal period in 3 main sections:
1. It describes the basic components of DNA, chromosomes, genes and how genetic material is inherited from parents during conception.
2. It explains genetic variations that occur naturally between individuals as well as commonalities, including an overview of twin types.
3. It outlines the 3 main periods of prenatal development from the zygote stage through implantation and the establishment of basic body structures in the embryonic period.
Chromosomal abnormalities are genetic variations involving changes in chromosome number or structure. They can be numerical, involving extra or missing chromosomes, or structural, with changes like deletions or duplications. Some common examples are Down syndrome, which involves an extra copy of chromosome 21, and Turner syndrome, where one X chromosome is missing. Chromosomal abnormalities are caused by errors in cell division and some risks increase with parental age. While they often cause physical and cognitive impairments, many people live full lives with proper management of symptoms.
Mutation refers to changes in the nucleotide sequence of an organism's genome. There are several types of mutations, including substitutions, insertions, deletions, inversions, and frameshifts. Mutations can be inherited from parents or acquired during an individual's lifetime from environmental mutagens like radiation, chemicals, or viruses. Common genetic disorders caused by mutations include Down syndrome, Edwards syndrome, Patau syndrome, and others involving aneuploidies or abnormalities of specific chromosomes.
Human genetics and heredity can now be studied with greater understanding thanks to advances like the Human Genome Project. The project mapped all human DNA which contains around 31,000 genes packed into the 46 chromosomes in every human cell. This has led to insights into inherited traits and diseases, new genetic tests, and holds promise for gene therapy to treat conditions. However, the power of genetic knowledge also raises ethical issues society must address around manipulating the human genome.
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The document summarizes lipid digestion and absorption. It describes how lipids are broken down in the mouth, stomach and small intestine by lingual, gastric and pancreatic lipases. Bile salts emulsify lipids into micelles in the small intestine to aid digestion by pancreatic lipase. This breaks triglycerides down into fatty acids and glycerol. Fatty acids and monoglycerides are absorbed via micelles in the small intestine. The liver plays a key role in recycling bile salts through enterohepatic circulation to aid continuous fat digestion and absorption.
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𝐃𝐢𝐬𝐜𝐮𝐬𝐬 𝐭𝐡𝐞 𝐄𝐏𝐏 𝐂𝐮𝐫𝐫𝐢𝐜𝐮𝐥𝐮𝐦 𝐢𝐧 𝐭𝐡𝐞 𝐏𝐡𝐢𝐥𝐢𝐩𝐩𝐢𝐧𝐞𝐬:
- Understand the goals and objectives of the Edukasyong Pantahanan at Pangkabuhayan (EPP) curriculum, recognizing its importance in fostering practical life skills and values among students. Students will also be able to identify the key components and subjects covered, such as agriculture, home economics, industrial arts, and information and communication technology.
𝐄𝐱𝐩𝐥𝐚𝐢𝐧 𝐭𝐡𝐞 𝐍𝐚𝐭𝐮𝐫𝐞 𝐚𝐧𝐝 𝐒𝐜𝐨𝐩𝐞 𝐨𝐟 𝐚𝐧 𝐄𝐧𝐭𝐫𝐞𝐩𝐫𝐞𝐧𝐞𝐮𝐫:
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This presentation was provided by Racquel Jemison, Ph.D., Christina MacLaughlin, Ph.D., and Paulomi Majumder. Ph.D., all of the American Chemical Society, for the second session of NISO's 2024 Training Series "DEIA in the Scholarly Landscape." Session Two: 'Expanding Pathways to Publishing Careers,' was held June 13, 2024.
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Chapter wise All Notes of First year Basic Civil Engineering
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.
Linear Measurements: Instruments used. Linear Measurement by Tape, Ranging out Survey Lines and overcoming Obstructions; Measurements on sloping ground; Tape corrections, conventional symbols. Angular Measurements: Instruments used; Introduction to Compass Surveying, Bearings and Longitude & Latitude of a Line, Introduction to total station.
Levelling: Instrument used Object of levelling, Methods of levelling in brief, and Contour maps.
Chapter 4
Buildings: Selection of site for Buildings, Layout of Building Plan, Types of buildings, Plinth area, carpet area, floor space index, Introduction to building byelaws, concept of sun light & ventilation. Components of Buildings & their functions, Basic concept of R.C.C., Introduction to types of foundation
Chapter 5
Transportation: Introduction to Transportation Engineering; Traffic and Road Safety: Types and Characteristics of Various Modes of Transportation; Various Road Traffic Signs, Causes of Accidents and Road Safety Measures.
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.
Water Pollution: Water Quality standards, Introduction to Treatment & Disposal of Waste Water. Reuse and Saving of Water, Rain Water Harvesting. Solid Waste Management: Classification of Solid Waste, Collection, Transportation and Disposal of Solid. Recycling of Solid Waste: Energy Recovery, Sanitary Landfill, On-Site Sanitation. Air & Noise Pollution: Primary and Secondary air pollutants, Harmful effects of Air Pollution, Control of Air Pollution. . Noise Pollution Harmful Effects of noise pollution, control of noise pollution, Global warming & Climate Change, Ozone depletion, Greenhouse effect
Text Books:
1. Palancharmy, Basic Civil Engineering, McGraw Hill publishers.
2. Satheesh Gopi, Basic Civil Engineering, Pearson Publishers.
3. Ketki Rangwala Dalal, Essentials of Civil Engineering, Charotar Publishing House.
4. BCP, Surveying volume 1
Walmart Business+ and Spark Good for Nonprofits.pdfTechSoup
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You will hear from Liz Willett, the Head of Nonprofits, and hear about what Walmart is doing to help nonprofits, including Walmart Business and Spark Good. Walmart Business+ is a new offer for nonprofits that offers discounts and also streamlines nonprofits order and expense tracking, saving time and money.
The webinar may also give some examples on how nonprofits can best leverage Walmart Business+.
The event will cover the following::
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Spark Good (walmart.com/sparkgood) is a charitable platform that enables nonprofits to receive donations directly from customers and associates.
Answers about how you can do more with Walmart!"
LAND USE LAND COVER AND NDVI OF MIRZAPUR DISTRICT, UPRAHUL
This Dissertation explores the particular circumstances of Mirzapur, a region located in the
core of India. Mirzapur, with its varied terrains and abundant biodiversity, offers an optimal
environment for investigating the changes in vegetation cover dynamics. Our study utilizes
advanced technologies such as GIS (Geographic Information Systems) and Remote sensing to
analyze the transformations that have taken place over the course of a decade.
The complex relationship between human activities and the environment has been the focus
of extensive research and worry. As the global community grapples with swift urbanization,
population expansion, and economic progress, the effects on natural ecosystems are becoming
more evident. A crucial element of this impact is the alteration of vegetation cover, which plays a
significant role in maintaining the ecological equilibrium of our planet.Land serves as the foundation for all human activities and provides the necessary materials for
these activities. As the most crucial natural resource, its utilization by humans results in different
'Land uses,' which are determined by both human activities and the physical characteristics of the
land.
The utilization of land is impacted by human needs and environmental factors. In countries
like India, rapid population growth and the emphasis on extensive resource exploitation can lead
to significant land degradation, adversely affecting the region's land cover.
Therefore, human intervention has significantly influenced land use patterns over many
centuries, evolving its structure over time and space. In the present era, these changes have
accelerated due to factors such as agriculture and urbanization. Information regarding land use and
cover is essential for various planning and management tasks related to the Earth's surface,
providing crucial environmental data for scientific, resource management, policy purposes, and
diverse human activities.
Accurate understanding of land use and cover is imperative for the development planning
of any area. Consequently, a wide range of professionals, including earth system scientists, land
and water managers, and urban planners, are interested in obtaining data on land use and cover
changes, conversion trends, and other related patterns. The spatial dimensions of land use and
cover support policymakers and scientists in making well-informed decisions, as alterations in
these patterns indicate shifts in economic and social conditions. Monitoring such changes with the
help of Advanced technologies like Remote Sensing and Geographic Information Systems is
crucial for coordinated efforts across different administrative levels. Advanced technologies like
Remote Sensing and Geographic Information Systems
9
Changes in vegetation cover refer to variations in the distribution, composition, and overall
structure of plant communities across different temporal and spatial scales. These changes can
occur natural.
Beyond Degrees - Empowering the Workforce in the Context of Skills-First.pptxEduSkills OECD
Iván Bornacelly, Policy Analyst at the OECD Centre for Skills, OECD, presents at the webinar 'Tackling job market gaps with a skills-first approach' on 12 June 2024
3. Introduction:
• A genetic disorder is an illness caused
by one or more abnormalities in the
genome, especially a condition that is
present from birth (congenital).
• Most genetic disorders are quite rare and
affect one person in every several
thousands or millions.
• Genetic disorders may or may not be
heritable, i.e., passed down from the
parents' genes.
4. Contd..
• In non-heritable genetic disorders, defects
may be caused by new mutations or
changes to the DNA.
• The defect will only be heritable if genetic
disorder occurs in the germ line.
5. History:
• 1866 - First there was
Gregor Mendel, who
studied inherited
characteristics.
• This was followed by
Francis crick and James
Watson who unraveled
the DNA molecule.
• This has led us to
understanding the
human genome
sequence.
6. Contd..
• 1950’s - Maurice
Wilkins, Rosalind
Franklin, Francis H. C.
Crick of Britain and
James D. Watson of
the U.S. discover
chemical structure of
DNA, starting a new
branch of science -
molecular biology.
8. Contd..
• 1983 – “Genes are able to change
position on chromosomes” - Barbara
McClintock
• Late 1980's - An international team of
scientists began the project to map the
human genome.
• 1990 - Gene therapy, first used for patient
9. • Earliest Evidence Of Hereditary Genetic
Disorder Discovered :
The fossil is dated as 1.5 million years old and is from a two-year-old
Homo erectus child. Homo erectus was a precursor of modern man.
Facts
11. 1. Single gene disorder
• These disorders involve mutations in the
DNA sequences of single genes. As a
result, the protein the gene codes for is
either altered or missing.
• Over 4000 human diseases caused by
single gene defects.
• Some Example : Adenosine deaminase
deficiency, Alpha-1 Antitrypsine
deficiency, Cystic fibrosis, Galatosemia,
Huntington’s disease, Maple syrup urine
disease, Phenylketonurimea c, Severe
combined immunodeficiency, Sickle cell
disease, Smith-Lemil-Optiz Syndrome
12. 1-a. Cystic Fibrosis:
• Cystic fibrosis is a genetic disorder
that affects the respiratory and
digestive systems.
• People with cystic fibrosis inherit a
defective gene on chromosome 7
called CFTR (cystic fibrosis
transmembrane conductance
regulator).
• The protein produced by this gene
normally helps salt (sodium chloride)
move in and out of cells.
13. Contd..
• If the protein doesn't work correctly, that
movement is blocked and an abnormally
thick sticky mucus is produced on the
outside of the cell.
• The cells most seriously affected by this
are the lung cells. This mucus clogs the
airways in the lungs, and increases the
risk of infection by bacteria.
• The thick mucus also blocks ducts in the
pancreas, so digestive enzymes can't get
into the intestines.
14. 1-b. Galactosemia:
• Galactosemia is a rare disorder that
affects the body's ability to break down
a food sugar called galactose.
• The body breaks down lactose into
galactose and glucose and uses these
sugars for energy.
• Most people with galactosemia are
missing an enzyme (called GALT) that
helps further break down galactose.
• Defects in galactose metabolism
cause toxic chemicals to build up in
cells of the body.
15. 1-c. Severe Combined
Immunodeficiency (SCID)
• SCID is a group of very rare-and
potentially fatal-inherited disorders
related to the immune system.
• People with SCID have a defect in
their immune system that leaves
them vulnerable to potentially
deadly infections.
• The most common form is caused
by a mutation in the SCIDX1 gene
located on the X chromosome.
16. Contd..
• This gene encodes a protein that is
used to construct a receptor called
IL2RG (interleukin-2 receptor).
• These receptors reside in the plasma
membrane of immune cells.
• Their job is to allow two types of
immune cells - T cells and B cells - to
communicate.
• When the gene is mutated, the
receptors cannot form and are absent
from immune cells.
17. Contd..
• As a result, the immune cells can't
communicate with one another about
invaders in the environment. Not
enough T and B cells are produced to
fight off the infection, and the body is
left defenseless.
• Some of infections including
pneumonia (lung infection), meningitis
(brain infection), and sepsis (blood
infection).
18. 1-d. Sickle Cell Disease
• Sickle cell disease is a disorder that
affects the red blood cells, which use a
protein called hemoglobin to transport
oxygen from the lungs to the rest of the
body.
• Normally, red blood cells are round and
flexible so they can travel freely through
the narrow blood vessels.
19. Contd..
• The hemoglobin molecule has two parts:
an alpha and a beta.
• Patients with sickle cell disease have a
mutation in a gene on chromosome 11
that codes for the beta subunit of the
hemoglobin protein.
• As a result, hemoglobin molecules don't
form properly, causing red blood cells to
be rigid and have a concave shape (like a
sickle
20.
21. World’s rarest diseases (Its a genetic disease)
Fibrodysplasia
Ossificans
Progressiva
(FOP)
:Sometimes
called “stone
man” syndrome,
is extremely rare
genetic disease
causes soft
tissue to turn
into bone.
Oh My God!!!
22. 2. Chromosomal Genetic Disorder
• In these disorders, entire chromosomes,
or large segments of them, are missing,
duplicated, or otherwise altered.
• Can be organized into two basic groups:
1) Numerical Abnormalities: When an
individual is missing either a
chromosome from a pair (monosomy) or
has more than two chromosomes of a
pair (trisomy)
2) Structural Abnormalities: When the
chromosome's structure is altered.
23. Contd..
• Some Examples: Cri-Du-Chat Syndrome,
Down Syndrome, 47 XXY Klinefelter
Syndrome, Turner Syndrome
(Monosomy), William Syndrome
24. 2-a. Cri-du-cat Syndrome
• The name of this syndrome is French for
"cry of the cat," referring to the distinctive
cry of children with this disorder.
• The cry is caused by abnormal larynx
development, one of the many symptoms
associated with this disorder.
• Cri-du-chat is caused by a deletion (the
length of which may vary) on the short
arm of chromosome 5.
• Multiple genes are missing as a result of
this deletion, and each may contribute to
the symptoms of the disorder.
25. Contd..
• Babies with cri-du-
chat are usually
small at birth, and
may have
respiratory
problems.
• Often, the larynx
doesn't develop
correctly, which
causes the signature
cat-like cry.
26. 2-b. Down Syndrome
• Down syndrome is a developmental
disorder caused by an extra copy of
chromosome 21 (which is why the
disorder is also called "trisomy 21").
• Having an extra copy of this chromosome
means that individuals have three copies
of each of its genes instead of two,
making it difficult for cells to properly
control how much protein is made.
• Producing too much or too little protein
can have serious consequences.
27. Contd..
• People with Down syndrome have very
distinct facial features: a flat face, a small
broad nose, abnormally shaped ears, a
large tongue, and upward slanting eyes
with small folds of skin in the corners.
• People with Down syndrome have an
increased risk of developing a number of
medical problems: respiratory infections,
gastrointestinal tract obstruction,
leukemia, heart defects, hearing loss,
hypothyroidism, and various eye
abnormalities.
28. Contd..
• No cure exists for
Down syndrome.
• But physical
therapy and/or
speech therapy
can help people
with the disorder
develop more
normally.
29. 2-c. 47, XXY
(Klinefelter syndrome)
• Males (46, XY) and females (46, XX).
• 47, XXY (or XXY) is a genetic condition
caused when someone has two X
chromosomes and one Y chromosome.
• Because people with an XXY
chromosome arrangement have a Y
chromosome, they are considered genetic
males.
• Most XXY individuals develop as males,
often not knowing they have an extra
chromosome.
30. Contd..
• XXY is usually caused by what is called
nondisjunction.
• Nondisjunction happens when a pair of
sex chromosomes fails to separate during
egg (or sperm) formation.
• The XXY chromosome arrangement
affects primarily sexual development.
• Typically, testes don't fully develop, and
the levels of the hormone testosterone
(important for male sexual development)
are lower than average.
31. Contd..
• As adults, nearly all XXY males are
unable to make sperm and so cannot
have biological children.
• Many men discover their condition only
after they seek medical help for infertility.
• Changes that appear at puberty can
include low growth of facial and body hair,
development of breast tissue, and small
testes.
32. 2-d. Turner Syndrome
• Turner syndrome is caused by a missing
or incomplete X chromosome.
• People who have Turner syndrome
develop as females.
• The genes affected are involved in growth
and sexual development, which is why
girls with the disorder are shorter than
normal and have abnormal sexual
characteristics.
33. 2-e. Williams Syndrome
• Williams syndrome is a
rare genetic disorder
that affects a child's
growth, physical
appearance, and
cognitive development.
• People who have
Williams syndrome are
missing genetic material
from chromosome 7,
including the gene
elastin.
34. Colorblindness:
• Mutated
genes are
located on
the X-
chromoso
me (for
red/green
color
blindness)
or both the
X and Y
chromoso
mes (for
total color
blindness).
- What about
you? Try it:
35. 3. Multifactorial Disorder
• These disorders involve variations in
multiple genes, often coupled with
environmental causes.
• Some example: Alzheimer's Disease,
Breast/Ovarian Cancer, Colon Cancer,
Hypothyroidism. Asthma, cancers, cleft
palate, diabetes, heart disease,
hypertension, inflammatory bowel
disease, mood disorder, obesity,
refractive error, infertility
36. 3-a. Alzheimer's Disease
• Alzheimer's is a disease that
causes dementia, or loss of brain
function. It affects the parts of the
brain that deal with memory,
thought, and language.
• The brain of a person with
Alzheimer's contains abnormal
clumps of cellular debris and
protein(plaques) and collapsed
microtubules (support structures of
the cell).
37. Contd..
• Microtubule disintegration is
caused by a malfunctioning
protein called tau, which
normally stabilizes the
microtubules.
• In Alzheimer's patients, tau
proteins instead cluster
together to form disabling
tangles.
• These plaques and tangles
damage the healthy cells
around them.
38. Contd..
• Because Alzheimer's
destroys brain cells,
people who have the
disorder slowly lose their
ability to think clearly.
• At first, they may forget
words or names, or have
trouble finding things.
• As the disorder worsens,
they may forget how to
do simple tasks.
*
39. References:
• Genetics Science learning center, University of UTAH – Health
Science
http://www.learn.genetics.com
• National human genome research institute
http://www.genome.gov/11508982
• http://www.narragansett.k12.ri.us
• http://faculty.ccc.edu/jminarcik
• http://www.medicalschoolpathology.com
• http://www.fnhk.cz/fs392/14geneticdiseases.ppt
• Day in Health by Lisa Collier Cool,
http://health.yahoo.net/experts/dayinhealth/worlds-rarest-diseases