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This document discusses single nucleotide polymorphisms (SNPs). It defines SNPs as variations in DNA sequences that occur when a single nucleotide differs between members of a species. SNPs are the most common type of genetic variation. The document outlines the characteristics and types of SNPs. It also describes several methods for detecting and genotyping SNPs, including direct sequencing, TaqMan assays, and microchips. The advantages and applications of using SNPs as genetic markers are discussed.
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NARASIMHA MURTHY. SNPs.pptx
This document discusses single nucleotide polymorphisms (SNPs) and methods for identifying and analyzing them. It defines SNPs as variations in a single nucleotide that can differ between members of a species. Several methods are described for identifying known and new SNPs, including gel electrophoresis, mass spectrometry, and DNA sequencing. SNPs can serve as biological markers and help locate genes associated with diseases. While they provide useful information, SNPs have less informative power than other genetic markers due to fewer alleles.
Single Nucleotide Polymorphism
This document discusses single nucleotide polymorphisms (SNPs), which are variations in DNA sequences among individuals. SNPs are the most common type of genetic variation, occurring around every 100 to 300 bases. They can be found in coding and non-coding regions, and may alter protein function directly by changing amino acids or indirectly by affecting regulatory sequences. SNPs can influence disease susceptibility and treatment response. Methods for identifying SNPs involve detecting known SNPs using techniques like restriction enzyme analysis or sequencing to find new SNPs. SNPs have many applications including gene mapping, disease association studies, diagnostics, and predicting treatment response.
Single nucleotide polymorphism
Single Nucleotide Polymorphism (SNP)
Polymorphism is a generic term that means 'many shapes‘. It is the ability to appsear in different form .
A single nucleotide polymorphism (SNP) is a DNA sequence variation occurring when a single nucleotide - A, T, C, or G - in the genome differs between members of a species (or between paired chromosomes in an individual).
For example, two sequenced DNA fragments from different individuals, AAGCCTA to AAGCTTA, contain a difference in a single nucleotide. For a variation to be considered a SNP, it must occur in at least 1% of the population.
CHARACTERISTICS OF SNP
• In human beings, 99.9 percent bases are same.
• Remaining 0.1 percent makes a person unique.
• Different attributes / characteristics / traits
• How a person looks, diseases he or she develops.
These variations can be:
Harmless (change in phenotype)
Harmful (diabetes, cancer, heart disease, Huntington's disease, and hemophilia )
Latent (variations found in coding and regulatory regions, are not harmful on their own, and the change in each gene only becomes apparent under certain conditions e.g. susceptibility to lung cancer)
TYPES OF SNP
NON-CODING REGION
A segment of DNA that does comprise a gene and thus does not code for a protein .
CODING REGION
Regions of DNA/RNA sequences that code for proteins
Synonymous
A SNP in which both forms lead to the same polypeptide sequence is termed synonymous
(sometimes called a silent mutation).
Non synonymous
If a different polypeptide sequence is produced they are non synonymous . A non synonymous change may either be missense or nonsense, where a missense change results in a different amino acid, while a nonsense change results in a premature stop codon.
SNP Applications
• Gene discovery and mapping
• Association-based candidate polymorphism testing
• Diagnostics/risk profiling
• Response prediction
• Homogeneity testing/study design
• Gene function identification
snp-100406143158-phpapp01.pdf
SNPs are variations in a single DNA nucleotide that can differ between members of a species. They are the most common type of genetic variation among humans, with about 0.1% of bases differing between individuals. SNPs may be harmless, harmful if they influence disease susceptibility, or latent if their effects are only seen under certain conditions. They can occur in both coding and non-coding regions, and may alter protein function if in a coding region. SNPs are useful for mapping genes and studying genetic contributions to disease.
L11 dna__polymorphisms__mutations_and_genetic_diseases4
1. DNA polymorphisms, such as single nucleotide polymorphisms (SNPs) and variable number tandem repeats (VNTRs), are natural variations in DNA sequences among individuals.
2. These polymorphisms can be used for indirect DNA diagnosis of genetic diseases through detection of restriction fragment length polymorphisms (RFLPs). DNA from family members is digested with restriction enzymes and analyzed through gel electrophoresis and Southern blotting.
3. If a polymorphism is found near a disease-causing mutation and is linked to it, its inheritance pattern can help determine which family members have inherited the mutation and are at risk for the associated genetic disease.
L11 dna__polymorphisms__mutations_and_genetic_diseases
1. DNA polymorphisms, such as single nucleotide polymorphisms (SNPs) and variable number tandem repeats (VNTRs), are natural variations in DNA sequences among individuals.
2. These polymorphisms can be used for indirect DNA diagnosis of genetic diseases through detection of restriction fragment length polymorphisms (RFLPs) near mutated genes.
3. Examples of gene mutations include substitutions, insertions, and deletions that can alter protein products and cause disease if in coding regions. Indirect diagnosis uses linked polymorphisms to infer whether individuals carry disease-causing mutations.
Snp
A single-nucleotide polymorphism (SNP) is a variation in a single DNA building block (nucleotide) that differs between members of a species. SNPs are the most common type of genetic variation among humans, with around 0.1% of bases differing between individuals. They can occur in coding regions, where they may alter the resulting protein, or non-coding regions. SNPs are significant for mapping genes and studying an individual's predisposition to diseases like cancer or response to medications. They can be identified by comparing DNA sequences from many individuals or through laboratory techniques like SNP genotyping.
Single Nucleotide Polymorphisms (2)-1.pptx
Polymorphic DNA refers to DNA sequence variations that are not associated with observable phenotypic variations. There are various forms of genomic variability including single nucleotide polymorphisms (SNPs) and variable number of tandem repeats. SNPs, which are single base changes between individuals, can be tracked using techniques like restriction fragment length polymorphisms and sequencing. SNP analysis is important for studying genetic variations that contribute to differences in disease susceptibility and drug responses.
Recommended
NARASIMHA MURTHY. SNPs.pptx
This document discusses single nucleotide polymorphisms (SNPs) and methods for identifying and analyzing them. It defines SNPs as variations in a single nucleotide that can differ between members of a species. Several methods are described for identifying known and new SNPs, including gel electrophoresis, mass spectrometry, and DNA sequencing. SNPs can serve as biological markers and help locate genes associated with diseases. While they provide useful information, SNPs have less informative power than other genetic markers due to fewer alleles.
Single Nucleotide Polymorphism
This document discusses single nucleotide polymorphisms (SNPs), which are variations in DNA sequences among individuals. SNPs are the most common type of genetic variation, occurring around every 100 to 300 bases. They can be found in coding and non-coding regions, and may alter protein function directly by changing amino acids or indirectly by affecting regulatory sequences. SNPs can influence disease susceptibility and treatment response. Methods for identifying SNPs involve detecting known SNPs using techniques like restriction enzyme analysis or sequencing to find new SNPs. SNPs have many applications including gene mapping, disease association studies, diagnostics, and predicting treatment response.
Single nucleotide polymorphism
Single Nucleotide Polymorphism (SNP)
Polymorphism is a generic term that means 'many shapes‘. It is the ability to appsear in different form .
A single nucleotide polymorphism (SNP) is a DNA sequence variation occurring when a single nucleotide - A, T, C, or G - in the genome differs between members of a species (or between paired chromosomes in an individual).
For example, two sequenced DNA fragments from different individuals, AAGCCTA to AAGCTTA, contain a difference in a single nucleotide. For a variation to be considered a SNP, it must occur in at least 1% of the population.
CHARACTERISTICS OF SNP
• In human beings, 99.9 percent bases are same.
• Remaining 0.1 percent makes a person unique.
• Different attributes / characteristics / traits
• How a person looks, diseases he or she develops.
These variations can be:
Harmless (change in phenotype)
Harmful (diabetes, cancer, heart disease, Huntington's disease, and hemophilia )
Latent (variations found in coding and regulatory regions, are not harmful on their own, and the change in each gene only becomes apparent under certain conditions e.g. susceptibility to lung cancer)
TYPES OF SNP
NON-CODING REGION
A segment of DNA that does comprise a gene and thus does not code for a protein .
CODING REGION
Regions of DNA/RNA sequences that code for proteins
Synonymous
A SNP in which both forms lead to the same polypeptide sequence is termed synonymous
(sometimes called a silent mutation).
Non synonymous
If a different polypeptide sequence is produced they are non synonymous . A non synonymous change may either be missense or nonsense, where a missense change results in a different amino acid, while a nonsense change results in a premature stop codon.
SNP Applications
• Gene discovery and mapping
• Association-based candidate polymorphism testing
• Diagnostics/risk profiling
• Response prediction
• Homogeneity testing/study design
• Gene function identification
snp-100406143158-phpapp01.pdf
SNPs are variations in a single DNA nucleotide that can differ between members of a species. They are the most common type of genetic variation among humans, with about 0.1% of bases differing between individuals. SNPs may be harmless, harmful if they influence disease susceptibility, or latent if their effects are only seen under certain conditions. They can occur in both coding and non-coding regions, and may alter protein function if in a coding region. SNPs are useful for mapping genes and studying genetic contributions to disease.
L11 dna__polymorphisms__mutations_and_genetic_diseases4
1. DNA polymorphisms, such as single nucleotide polymorphisms (SNPs) and variable number tandem repeats (VNTRs), are natural variations in DNA sequences among individuals.
2. These polymorphisms can be used for indirect DNA diagnosis of genetic diseases through detection of restriction fragment length polymorphisms (RFLPs). DNA from family members is digested with restriction enzymes and analyzed through gel electrophoresis and Southern blotting.
3. If a polymorphism is found near a disease-causing mutation and is linked to it, its inheritance pattern can help determine which family members have inherited the mutation and are at risk for the associated genetic disease.
L11 dna__polymorphisms__mutations_and_genetic_diseases
1. DNA polymorphisms, such as single nucleotide polymorphisms (SNPs) and variable number tandem repeats (VNTRs), are natural variations in DNA sequences among individuals.
2. These polymorphisms can be used for indirect DNA diagnosis of genetic diseases through detection of restriction fragment length polymorphisms (RFLPs) near mutated genes.
3. Examples of gene mutations include substitutions, insertions, and deletions that can alter protein products and cause disease if in coding regions. Indirect diagnosis uses linked polymorphisms to infer whether individuals carry disease-causing mutations.
Snp
A single-nucleotide polymorphism (SNP) is a variation in a single DNA building block (nucleotide) that differs between members of a species. SNPs are the most common type of genetic variation among humans, with around 0.1% of bases differing between individuals. They can occur in coding regions, where they may alter the resulting protein, or non-coding regions. SNPs are significant for mapping genes and studying an individual's predisposition to diseases like cancer or response to medications. They can be identified by comparing DNA sequences from many individuals or through laboratory techniques like SNP genotyping.
Single Nucleotide Polymorphisms (2)-1.pptx
Polymorphic DNA refers to DNA sequence variations that are not associated with observable phenotypic variations. There are various forms of genomic variability including single nucleotide polymorphisms (SNPs) and variable number of tandem repeats. SNPs, which are single base changes between individuals, can be tracked using techniques like restriction fragment length polymorphisms and sequencing. SNP analysis is important for studying genetic variations that contribute to differences in disease susceptibility and drug responses.
Molecular marker by anil bl gather
1. Molecular markers are DNA sequences that can be used to identify specific locations or genes on chromosomes. Different types of molecular markers include isozymes, restriction fragment length polymorphisms (RFLPs), variable number of tandem repeats (VNTRs), and single nucleotide polymorphisms (SNPs).
2. Molecular markers have a variety of uses in genetics and forensic analysis. RFLPs and VNTRs can be used for DNA fingerprinting and identifying individuals. SNP markers allow for analysis of genetic variations between individuals and populations. Molecular markers are also used for genome mapping and marker-assisted breeding in plants and animals.
3. There are several techniques used to detect molecular markers, including gel electrophoresis, Southern blot
DNA MARKERS 2023 DNA FINGERPRINTING TYPE OF METHODS OF DNA FINGERPRINTING
Molecular techniques allow for analysis of protein and DNA interactions through techniques like biochips, polymerase chain reaction (PCR), and quantitative real-time PCR. DNA fingerprinting and markers like RAPD, RFLP, AFLP, and SSR can be used to study genetics. Other techniques mentioned include site directed mutagenesis, reverse genetics, gene knockouts using RNAi and gene silencing, and gene therapy. Omics techniques like metagenomics, transcriptomics, and proteomics are also introduced.
Molecular marker
Genetic markers are sequences of DNA located at specific positions on chromosomes that can be associated with particular traits. Common types of genetic markers include RFLP, AFLP, RAPD, SNP, and VNTR. These markers allow researchers to locate genes associated with diseases and trace inheritance patterns. While harmless themselves, genetic markers enable the positioning of disease genes along chromosomes to better understand inheritance of traits and diseases.
molecular biology pharmacogenomics and SNPs
Trade-offs involve losing one quality or aspect in return for gaining another. Polymorphism refers to appearing in different forms. Single nucleotide polymorphisms (SNPs) are variations where a single DNA nucleotide differs between individuals. SNPs occur frequently and make each person genetically unique. They can influence disease susceptibility and drug response. Pharmacogenomics studies how genetic variations affect individual responses to drugs and is important for personalized medicine. It aims to optimize drug therapy based on a person's genetic makeup.
molecular biology pharmacogenomics and SNPs
Trade-offs involve losing one quality or aspect in return for gaining another. Polymorphism refers to appearing in different forms. Single nucleotide polymorphisms (SNPs) are variations where a single DNA nucleotide differs between individuals. SNPs occur frequently and make each person genetically unique. They can influence disease susceptibility and drug response. Pharmacogenomics studies how genetic variations affect individual responses to drugs and is important for personalized medicine.
Single nucleotide polymorphisms (sn ps), haplotypes,
This document provides an overview of SNPs (single nucleotide polymorphisms), including their biological background, terminology, detection techniques, and applications. It defines SNPs as single base changes that occur in at least 1% of a population. SNPs can be harmless, harmful, or latent, and are found primarily in noncoding regions, occurring around every 100-300 bases. The document discusses techniques for detecting known and unknown SNPs, including hybridization methods like microarrays and PCR, as well as enzyme-based techniques like nucleotide extension, cleavage, and ligation. It notes applications of SNPs in areas like gene discovery, disease association studies, diagnostics, and predicting treatment response.
Dna based tools in fish identification
The document discusses DNA markers for genetic variability studies in fish. It describes several types of genetic variation, including single nucleotide polymorphisms (SNPs) and insertions/deletions, that can be revealed using DNA marker technology. It also discusses different types of molecular markers, such as microsatellites and DNA barcoding using the CO1 gene, that can help characterize genetic variation within and among species.
Genetic_Biomarkers.ppt
This document discusses genetic biomarkers and molecular markers. It describes different types of genetic variation like SNPs, indels, inversions, and rearrangements. It also summarizes various DNA-based genetic markers used in research, including RFLPs, RAPDs, AFLPs, ESTs, SNPs, and microsatellites. The document discusses the differences between type I (coding) and type II (non-coding) markers. It provides details on specific marker types and their applications, advantages, and disadvantages.
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This document discusses SNPs (single nucleotide polymorphisms) and ESTs (expression sequence tags). It defines SNPs as single base changes in DNA that occur in over 1% of a population. SNPs are very common, occurring around every 300 DNA bases. They are important for disease diagnosis, drug development and estimating disease predisposition. The document also defines ESTs as short sequences obtained from cDNA clones that provide evidence for gene structure and discovery. ESTs help identify exons and new proteins as well as characterize splice variants.
molecular markers
DNA polymorphisms can be used as genetic markers. Molecular markers include non-PCR based markers like RFLPs and PCR-based markers like microsatellites, minisatellites, and SNPs. RFLPs detect differences in restriction fragment lengths that can be used to identify carriers of genetic diseases or match DNA samples in criminal cases. Microsatellites and minisatellites are variable tandem repeats that provide many alleles for identification. Together these marker types allow DNA fingerprinting for individual identification.
Molecular markers
This document discusses various types of molecular markers that can be used for genetic analysis, including DNA polymorphisms. It describes different types of molecular markers such as restriction fragment length polymorphisms (RFLPs), variable number tandem repeats (VNTRs), short tandem repeats (STRs), random amplified polymorphic DNA (RAPDs), amplified fragment length polymorphisms (AFLPs) and single nucleotide polymorphisms (SNPs). It provides details on how several of these markers like microsatellites, minisatellites and RFLPs can be detected and analyzed to develop DNA fingerprints for purposes such as forensics, pedigree analysis and genetic mapping.
Molecular marker and its application to genome mapping and molecular breeding
Molecular markers are genetic elements that can be used to follow chromosomes or chromosomal segments during genetic analysis. Molecular markers include molecular techniques like single nucleotide polymorphisms (SNPs) and simple sequence repeats (SSRs). SSRs, also known as microsatellites, are tandem repeats of short DNA motifs that are highly polymorphic due to replication slippage errors. SNPs are single base pair changes that are the most common type of genetic variation. Both SNPs and SSRs are useful molecular markers that can be detected through polymerase chain reaction (PCR) and are important tools for genome mapping and molecular breeding applications.
SNPs analysis methods
This document discusses various methods for single nucleotide polymorphism (SNP) analysis, including their principles, advantages, and disadvantages. It describes SNP genotyping techniques like RFLP-PCR, TaqMan assays, microarrays, Sanger sequencing, SNaPshot, and next-generation sequencing. The key aspects are accuracy, throughput, cost, and ability to detect both known and unknown SNPs. The document emphasizes choosing methods based on required information extraction and cost effectiveness.
Gene mapping and DNA markers
Gene mapping involves identifying the location of genes on chromosomes. It can help identify genes associated with inherited diseases. There are two main types of gene mapping: linkage mapping, which determines the relative distances between genes on a chromosome, and physical mapping, which measures distances in nucleotide bases. Gene mapping is done using various genetic markers, such as single nucleotide polymorphisms, microsatellites, and restriction fragment length polymorphisms. The goal is to better understand gene expression and regulation to help develop treatments and cures for genetic disorders.
Presentation1
This document discusses single nucleotide polymorphisms (SNPs). SNPs represent variations in a single DNA nucleotide where one nucleotide differs between members of a species. They are the most common type of genetic variation. SNPs can occur in coding and non-coding regions, and may alter protein function or be silent. Methods to genotype SNPs include direct sequencing, TaqMan assays, and microchips. SNPs are useful as genetic markers and have applications in gene mapping, disease association studies, and personalized medicine.
Snp
SNPs are found in
coding and (mostly) noncoding regions.
Occur with a very high frequency
about 1 in 1000 bases to 1 in 100 to 300 bases.
The abundance of SNPs and the ease with which they can be measured make these genetic variations significant.
SNPs close to particular gene acts as a marker for that gene.
SNPs in coding regions may alter the protein structure made by that coding region.
A SNP is defined as a single base change in a DNA sequence that occurs in a significant proportion (more than 1 percent) of a large population. Sequence genomes of a large number of people
Compare the base sequences to discover SNPs.
Generate a single map of the human genome containing all possible SNPs => SNP maps
Single nucleotide polymorphism by kk sahu
Single nucleotide polymorphisms (SNPs) are DNA sequence variations that occur when a single nucleotide differs between individuals. SNPs are the most common type of genetic variation and can be found in both coding and non-coding regions. They may alter protein function or gene regulation. SNPs can act as biological markers for locating genes associated with diseases like cancer. Studying SNPs helps researchers understand genetic influences on disease susceptibility and drug responses.
Genetic biomarkers
This document discusses different types of genetic markers that can be used to detect genetic variation, including single nucleotide polymorphisms (SNPs), insertions/deletions, microsatellites, restriction fragment length polymorphisms (RFLPs), random amplified polymorphic DNA (RAPDs), amplified fragment length polymorphisms (AFLPs), and expressed sequence tags (ESTs). It describes how these markers are classified as type I (associated with genes of known function) or type II (associated with anonymous genomic regions) and compares their properties such as polymorphic information content and usefulness in genetic analysis.
Dna fingerprinting
DNA fingerprinting is a technique used to identify individuals by analyzing polymorphisms in their DNA. It was developed in the 1980s by Alec Jeffreys in the UK. The technique involves isolating DNA from samples like blood or hair, digesting it with restriction enzymes, and comparing polymorphic loci between individuals to determine a match. DNA fingerprinting can be used to identify criminals, victims, and solve paternity disputes through analyzing variable number tandem repeats in the genome.
markers and their role
DNA markers can be used in plant breeding to identify plant varieties and track genetic inheritance. There are several types of DNA markers, including morphological markers, protein markers, RFLPs, RAPDs, AFLPs, SSRs, CAPS, SCARs, ISSRs, ESTs, STSs, and SNPs. DNA markers have advantages over morphological markers in that they are abundant, not influenced by environment, and can precisely track inheritance. The document discusses various DNA marker techniques and their applications in plant breeding, including genetic mapping, marker-assisted selection, and germplasm characterization.
Genetic Counseling in the field of medicine.pptx
Genetic counseling involves assessing individuals and families affected by genetic disorders to help them understand medical and psychological implications. Counselors educate about inheritance, testing, management and prevention, and support informed decision making. Counseling sessions involve providing unbiased information, discussing disease and testing options, and offering support. The goal is to increase understanding and allow for non-directive decision making. Counselors help clients cope with emotional impacts and connect them to additional resources and support services.
Disinfection_and_sterilisation of laboratory materials.ppt
This document discusses disinfection and sterilization. It defines antiseptics as antimicrobial substances applied to living tissue to reduce infection, and distinguishes them from antibiotics and disinfectants. Common antiseptics and disinfectants are listed. Disinfectants destroy microorganisms on non-living surfaces and are distinguished from antiseptics. Various types of disinfectants are outlined including alcohols, aldehydes, halogens, oxidizing agents, phenolics, and quaternary ammonium compounds. Sterilization eliminates all microorganisms including spores and viruses, and can be achieved through heat-based methods like autoclaves, hot air ovens,
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Molecular marker by anil bl gather
1. Molecular markers are DNA sequences that can be used to identify specific locations or genes on chromosomes. Different types of molecular markers include isozymes, restriction fragment length polymorphisms (RFLPs), variable number of tandem repeats (VNTRs), and single nucleotide polymorphisms (SNPs).
2. Molecular markers have a variety of uses in genetics and forensic analysis. RFLPs and VNTRs can be used for DNA fingerprinting and identifying individuals. SNP markers allow for analysis of genetic variations between individuals and populations. Molecular markers are also used for genome mapping and marker-assisted breeding in plants and animals.
3. There are several techniques used to detect molecular markers, including gel electrophoresis, Southern blot
DNA MARKERS 2023 DNA FINGERPRINTING TYPE OF METHODS OF DNA FINGERPRINTING
Molecular techniques allow for analysis of protein and DNA interactions through techniques like biochips, polymerase chain reaction (PCR), and quantitative real-time PCR. DNA fingerprinting and markers like RAPD, RFLP, AFLP, and SSR can be used to study genetics. Other techniques mentioned include site directed mutagenesis, reverse genetics, gene knockouts using RNAi and gene silencing, and gene therapy. Omics techniques like metagenomics, transcriptomics, and proteomics are also introduced.
Molecular marker
Genetic markers are sequences of DNA located at specific positions on chromosomes that can be associated with particular traits. Common types of genetic markers include RFLP, AFLP, RAPD, SNP, and VNTR. These markers allow researchers to locate genes associated with diseases and trace inheritance patterns. While harmless themselves, genetic markers enable the positioning of disease genes along chromosomes to better understand inheritance of traits and diseases.
molecular biology pharmacogenomics and SNPs
Trade-offs involve losing one quality or aspect in return for gaining another. Polymorphism refers to appearing in different forms. Single nucleotide polymorphisms (SNPs) are variations where a single DNA nucleotide differs between individuals. SNPs occur frequently and make each person genetically unique. They can influence disease susceptibility and drug response. Pharmacogenomics studies how genetic variations affect individual responses to drugs and is important for personalized medicine. It aims to optimize drug therapy based on a person's genetic makeup.
molecular biology pharmacogenomics and SNPs
Trade-offs involve losing one quality or aspect in return for gaining another. Polymorphism refers to appearing in different forms. Single nucleotide polymorphisms (SNPs) are variations where a single DNA nucleotide differs between individuals. SNPs occur frequently and make each person genetically unique. They can influence disease susceptibility and drug response. Pharmacogenomics studies how genetic variations affect individual responses to drugs and is important for personalized medicine.
Single nucleotide polymorphisms (sn ps), haplotypes,
This document provides an overview of SNPs (single nucleotide polymorphisms), including their biological background, terminology, detection techniques, and applications. It defines SNPs as single base changes that occur in at least 1% of a population. SNPs can be harmless, harmful, or latent, and are found primarily in noncoding regions, occurring around every 100-300 bases. The document discusses techniques for detecting known and unknown SNPs, including hybridization methods like microarrays and PCR, as well as enzyme-based techniques like nucleotide extension, cleavage, and ligation. It notes applications of SNPs in areas like gene discovery, disease association studies, diagnostics, and predicting treatment response.
Dna based tools in fish identification
The document discusses DNA markers for genetic variability studies in fish. It describes several types of genetic variation, including single nucleotide polymorphisms (SNPs) and insertions/deletions, that can be revealed using DNA marker technology. It also discusses different types of molecular markers, such as microsatellites and DNA barcoding using the CO1 gene, that can help characterize genetic variation within and among species.
Genetic_Biomarkers.ppt
This document discusses genetic biomarkers and molecular markers. It describes different types of genetic variation like SNPs, indels, inversions, and rearrangements. It also summarizes various DNA-based genetic markers used in research, including RFLPs, RAPDs, AFLPs, ESTs, SNPs, and microsatellites. The document discusses the differences between type I (coding) and type II (non-coding) markers. It provides details on specific marker types and their applications, advantages, and disadvantages.
SNPs and ESTs.pptx
This document discusses SNPs (single nucleotide polymorphisms) and ESTs (expression sequence tags). It defines SNPs as single base changes in DNA that occur in over 1% of a population. SNPs are very common, occurring around every 300 DNA bases. They are important for disease diagnosis, drug development and estimating disease predisposition. The document also defines ESTs as short sequences obtained from cDNA clones that provide evidence for gene structure and discovery. ESTs help identify exons and new proteins as well as characterize splice variants.
molecular markers
DNA polymorphisms can be used as genetic markers. Molecular markers include non-PCR based markers like RFLPs and PCR-based markers like microsatellites, minisatellites, and SNPs. RFLPs detect differences in restriction fragment lengths that can be used to identify carriers of genetic diseases or match DNA samples in criminal cases. Microsatellites and minisatellites are variable tandem repeats that provide many alleles for identification. Together these marker types allow DNA fingerprinting for individual identification.
Molecular markers
This document discusses various types of molecular markers that can be used for genetic analysis, including DNA polymorphisms. It describes different types of molecular markers such as restriction fragment length polymorphisms (RFLPs), variable number tandem repeats (VNTRs), short tandem repeats (STRs), random amplified polymorphic DNA (RAPDs), amplified fragment length polymorphisms (AFLPs) and single nucleotide polymorphisms (SNPs). It provides details on how several of these markers like microsatellites, minisatellites and RFLPs can be detected and analyzed to develop DNA fingerprints for purposes such as forensics, pedigree analysis and genetic mapping.
Molecular marker and its application to genome mapping and molecular breeding
Molecular markers are genetic elements that can be used to follow chromosomes or chromosomal segments during genetic analysis. Molecular markers include molecular techniques like single nucleotide polymorphisms (SNPs) and simple sequence repeats (SSRs). SSRs, also known as microsatellites, are tandem repeats of short DNA motifs that are highly polymorphic due to replication slippage errors. SNPs are single base pair changes that are the most common type of genetic variation. Both SNPs and SSRs are useful molecular markers that can be detected through polymerase chain reaction (PCR) and are important tools for genome mapping and molecular breeding applications.
SNPs analysis methods
This document discusses various methods for single nucleotide polymorphism (SNP) analysis, including their principles, advantages, and disadvantages. It describes SNP genotyping techniques like RFLP-PCR, TaqMan assays, microarrays, Sanger sequencing, SNaPshot, and next-generation sequencing. The key aspects are accuracy, throughput, cost, and ability to detect both known and unknown SNPs. The document emphasizes choosing methods based on required information extraction and cost effectiveness.
Gene mapping and DNA markers
Gene mapping involves identifying the location of genes on chromosomes. It can help identify genes associated with inherited diseases. There are two main types of gene mapping: linkage mapping, which determines the relative distances between genes on a chromosome, and physical mapping, which measures distances in nucleotide bases. Gene mapping is done using various genetic markers, such as single nucleotide polymorphisms, microsatellites, and restriction fragment length polymorphisms. The goal is to better understand gene expression and regulation to help develop treatments and cures for genetic disorders.
Presentation1
This document discusses single nucleotide polymorphisms (SNPs). SNPs represent variations in a single DNA nucleotide where one nucleotide differs between members of a species. They are the most common type of genetic variation. SNPs can occur in coding and non-coding regions, and may alter protein function or be silent. Methods to genotype SNPs include direct sequencing, TaqMan assays, and microchips. SNPs are useful as genetic markers and have applications in gene mapping, disease association studies, and personalized medicine.
Snp
SNPs are found in
coding and (mostly) noncoding regions.
Occur with a very high frequency
about 1 in 1000 bases to 1 in 100 to 300 bases.
The abundance of SNPs and the ease with which they can be measured make these genetic variations significant.
SNPs close to particular gene acts as a marker for that gene.
SNPs in coding regions may alter the protein structure made by that coding region.
A SNP is defined as a single base change in a DNA sequence that occurs in a significant proportion (more than 1 percent) of a large population. Sequence genomes of a large number of people
Compare the base sequences to discover SNPs.
Generate a single map of the human genome containing all possible SNPs => SNP maps
Single nucleotide polymorphism by kk sahu
Single nucleotide polymorphisms (SNPs) are DNA sequence variations that occur when a single nucleotide differs between individuals. SNPs are the most common type of genetic variation and can be found in both coding and non-coding regions. They may alter protein function or gene regulation. SNPs can act as biological markers for locating genes associated with diseases like cancer. Studying SNPs helps researchers understand genetic influences on disease susceptibility and drug responses.
Genetic biomarkers
This document discusses different types of genetic markers that can be used to detect genetic variation, including single nucleotide polymorphisms (SNPs), insertions/deletions, microsatellites, restriction fragment length polymorphisms (RFLPs), random amplified polymorphic DNA (RAPDs), amplified fragment length polymorphisms (AFLPs), and expressed sequence tags (ESTs). It describes how these markers are classified as type I (associated with genes of known function) or type II (associated with anonymous genomic regions) and compares their properties such as polymorphic information content and usefulness in genetic analysis.
Dna fingerprinting
DNA fingerprinting is a technique used to identify individuals by analyzing polymorphisms in their DNA. It was developed in the 1980s by Alec Jeffreys in the UK. The technique involves isolating DNA from samples like blood or hair, digesting it with restriction enzymes, and comparing polymorphic loci between individuals to determine a match. DNA fingerprinting can be used to identify criminals, victims, and solve paternity disputes through analyzing variable number tandem repeats in the genome.
markers and their role
DNA markers can be used in plant breeding to identify plant varieties and track genetic inheritance. There are several types of DNA markers, including morphological markers, protein markers, RFLPs, RAPDs, AFLPs, SSRs, CAPS, SCARs, ISSRs, ESTs, STSs, and SNPs. DNA markers have advantages over morphological markers in that they are abundant, not influenced by environment, and can precisely track inheritance. The document discusses various DNA marker techniques and their applications in plant breeding, including genetic mapping, marker-assisted selection, and germplasm characterization.
Similar to snp-150505131615-conversion-gate02.pdf (20)
DNA MARKERS 2023 DNA FINGERPRINTING TYPE OF METHODS OF DNA FINGERPRINTING
DNA MARKERS 2023 DNA FINGERPRINTING TYPE OF METHODS OF DNA FINGERPRINTING
Single nucleotide polymorphisms (sn ps), haplotypes,
Single nucleotide polymorphisms (sn ps), haplotypes,
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Laboratory Techniques in immunology practice.
The document describes several laboratory techniques used in immunology, including antigen-antibody interactions, fluorescent antibody tests, radioimmunoassay/ELISA, and flow cytometry. Antigen-antibody interactions form the basis of precipitation and agglutination tests. Fluorescent antibody tests use fluorescent dyes to detect the presence of antigens or antibodies. Radioimmunoassay and ELISA are sensitive techniques to detect proteins and markers. Flow cytometry uses fluorescent antibodies to rapidly analyze cell populations based on surface marker binding.
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Isoenzymes are multiple forms of the same enzyme that differ in their physical and chemical properties but catalyze the same reaction. They can be produced from a single gene or multiple genes. Isoenzymes can be separated using techniques like heat inactivation, chemical inhibition, and electrophoretic techniques. Detection of tissue-specific isoenzymes provides clues about the site of pathology. Common isoenzymes measured include creatine kinase, lactate dehydrogenase, alkaline phosphatase, and amylase. Isoenzyme analysis is useful for diagnosing conditions like myocardial infarction.
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Enzymes catalyze biochemical reactions with great specificity and efficiency under mild conditions. Enzyme kinetics follows defined rate laws that can be modeled using Michaelis-Menten equations. The Michaelis-Menten equation relates reaction velocity to substrate concentration and defines kinetic parameters like Vmax and KM. Reaction rates are influenced by factors like temperature, pH, and the presence of inhibitors or activators. Different types of inhibition - competitive, uncompetitive, mixed - affect kinetic parameters in characteristic ways. Irreversible inhibitors permanently inactivate the enzyme through covalent modification.
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Tumor markers are substances produced by cancer cells or the body's response to cancer that can be detected and measured in blood, tissue, urine, or other bodily fluids. They are used to help detect, diagnose, monitor treatment outcomes, and detect cancer recurrence. Some key tumor markers discussed in the document include alpha-fetoprotein (AFP) for liver cancer, prostate-specific antigen (PSA) for prostate cancer, carcinoembryonic antigen (CEA) for gastrointestinal cancers, and CA125 for ovarian cancer. Tumor markers are not always specific to a single type of cancer and their levels can be elevated in some benign conditions as well, so they should be interpreted along with other diagnostic tests and clinical
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This document discusses various sampling techniques used in research. It defines key terms like population, sample, sampling frame, and describes the goal of sampling as making inferences about a population based on a representative sample. The main types of sampling covered are probability sampling methods like simple random sampling, stratified random sampling, and cluster sampling, as well as non-probability methods like convenience sampling. Probability sampling aims for each member of the population to have an equal chance of selection, while non-probability sampling does not. Important considerations for sample design include research objectives, resources, knowledge of the target population, and statistical analysis needs.
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This document provides an overview of atomic absorption spectroscopy. It discusses the basic principles including how atomic absorption spectroscopy quantifies the absorption of ground state atoms in the gaseous state using ultraviolet or visible light. It describes the typical instrumentation used including hollow cathode lamps as the light source, nebulizers to create a fine aerosol spray, flame or graphite furnace atomizers to vaporize samples, monochromators to select wavelengths, and detectors to convert light signals to electrical signals. Applications like environmental monitoring and food/pharmaceutical analysis are mentioned. Two experiments on determining vanadium in lubricating oil and trace elements in contaminated soil are briefly outlined.
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This document outlines a LinkedIn marketing course covering key concepts, the LinkedIn platform, creating content, and reviewing performance. The course is divided into three parts: concepts and definitions; the LinkedIn platform features and best practices; and creating different types of content, getting content inspiration, and reviewing performance metrics. The document provides an outline of learning objectives, key terms, platform features, content examples, and ways to analyze page performance. It also includes tips on setting up profiles, creating posts, building communities, and common mistakes to avoid.
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This document discusses entrepreneurship and innovation. It covers the importance of entrepreneurship in job creation and innovation. Key characteristics of entrepreneurs include a high need for achievement and risk-taking. Developing a business plan and choosing a legal structure such as a proprietorship, partnership or corporation are important steps. Managing growth and avoiding problems like cash flow issues are also discussed. The document emphasizes that innovation is vital for business success and outlines the "Five C's" approach to maximize innovation.
AAS.ppt
Atomic absorption spectrometry can be used to determine elemental composition, not compounds. It requires a radiation source and high temperatures for atomization. There are two common atomization methods: flame and electrothermal. Flame atomization introduces samples into a flame where they undergo desolvation, volatilization, dissociation, and excitation/ionization. Electrothermal atomization atomizes samples in a graphite furnace at temperatures up to 3000°C, providing higher sensitivity than flame atomization. Radiation sources like hollow cathode lamps provide narrow, intense emission lines for selective analysis of elements. AA spectrometers can have single or double beam designs to correct for spectral and chemical interferences that can affect results.
SAMPLING TECHNIQUES.pptx
The document discusses various sampling techniques used in research including probability sampling methods like simple random sampling, systematic sampling, stratified random sampling, cluster sampling, and multistage sampling. It also discusses non-probability sampling techniques such as snowball sampling, convenience sampling, purposive sampling, quota sampling, and self-selection sampling. For each method, it provides the definition, advantages, and disadvantages. It concludes by listing references used in the document.
EPI546_Lecture_8.ppt
This document outlines a lecture on study design, specifically cross-sectional and cohort studies. It begins by listing the objectives and concepts to be covered, including distinguishing association from causation, different study designs, measures of association like relative risk, and biases. It then defines cross-sectional and cohort studies, how they are organized, their advantages and disadvantages. Examples are provided to illustrate key concepts like calculating relative risk and population attributable risk fraction. Selection and confounding biases in cohort studies are also discussed.
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This document provides an overview of key concepts related to entrepreneurship and small business management. It discusses the concept of an entrepreneur, distinguishing them from managers. It defines entrepreneurship and lists its key characteristics, including economic activity, innovation, risk-bearing, and enterprise creation. The document also discusses types of entrepreneurs, functions of entrepreneurs, the concept of intrapreneurs, and differences between entrepreneurs and intrapreneurs. Additionally, it covers unemployment in India and the importance of wealth creation through entrepreneurship.
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This document describes cohort and case-control study designs. Cohort studies follow groups over time to compare disease occurrence between exposed and unexposed groups. Case-control studies identify people with and without a disease and compare past exposures. Cohort studies are best when the entire population is identifiable, while case-control studies are more efficient when the population is large or undefined. The document provides examples of outbreak investigations that effectively used each design.
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- 1. ASSIGNMENT ON SINGLE NUCLEOTIDE POLYMORPHISM (SNP) CHANDAN HALDAR FBT MA4- 03
- 2. INTRODUCTION Polymorphism is a generic term that means 'many shapes‘. It is the ability to appear in different form . A single nucleotide polymorphism (SNP) is a DNA sequence variation occurring when a single nucleotide - A, T, C, or G - in the genome differs between members of a species (or between paired chromosomes in an individual).
- 3. Single nucleotide polymorphisms or SNP, are the most common type of genetic variation among species. Each SNP represents a difference in a single DNA building block, called a nucleotide . For a variation to be considered a SNP, it must occur in at least 1% of the population. For example, two sequenced DNA fragments from different individuals, AAGCCTA to AAGCTTA, contain a difference in a single nucleotide .
- 5. CHARACTERISTICS OF SNP In human beings, 99.9 percent bases are same. Remaining 0.1 percent makes a person unique. Different attributes / characteristics / traits How a person looks, diseases he or she develops. These variations can be: Harmless (change in phenotype) Harmful (diabetes, cancer, heart disease, and hemophilia).
- 6. SNP AS GENETIC MARKERS SNPs are found in coding and (mostly) non coding regions. Occur with a very high frequency about 1 in 1000 bases to 1 in 100 to 300 bases. The abundance of SNPs and the ease with which they can be measured make these genetic variations significant. SNPs close to particular gene acts as a marker for that gene. SNPs in coding regions may alter the protein structure made by that coding region.
- 7. TYPES OF SNP SNP SNP NON- SYNONYMOUS MISSENSE NONSENSE SYNONYMOUS In the coding region
- 8. DEVELOPMENT OF SNP ( DIRECT SEQUENCING METHOD) Rohu A B C (individuals) xa,ya,za xb,yb,zb xc,yc,zc. (genes)
- 9. RNA is taken from each individual.( particular gene) cDNA PCR Electrophoresis of each PCR product. Gel extraction Sequencing (Sanger di-deoxy method.)
- 12. ALIGNMENT OF THE SEQUENCE For alignment of the genes a bioinfomatics tool BLAST (Basic Local Alignment Search Tool) is used. Xa = AAGCCTAGATAGCT. XB = AAGCTTAGATAGCT. XC = AAGCATAGATAGCT.
- 13. NEXT GENERATION SEQUENCING 1)Polony sequencing 2)454 pyrosequencing 3)Illumina (Solexa) sequencing 4)SOLiD sequencing 5)Ion Torrent semiconductor sequencing
- 14. Micro-reactors Adapter carrying library DNA Anneal DNA template to capture beads Break micro-reactors Isolate DNA containing beads “Water-in-oil” emulsion + PCR Reagents + Emulsion Oil Perform emulsion PCR A B Single test tube generation of millions of clonally amplified sequencing templates No cloning and colony picking
- 18. SNP GENOTYPING •Reverse Dot Blots •Direct Sequencing •HPLC Genotyping •TaqMan Assay •Fluorescence Polarization (FP) •Mass Spec •Microchips •Pyrosequencing •Allele Specific Hybridization •SNaPshot
- 19. Taq Man Assay •Uses a probe that binds to center of DNA sequence you are amplifying •Probe contains both: –Reporter dye –Quencher dye –stops reporter from fluorescence •Whenever two dyes break apart ,we see fluorescence of reporter dye •Probe is allele specific so that it will only break upon copying exact DNA sequence
- 21. MICROCHIPS Silicon chip has thousands of oligo probes attached to it. -Exact position of each probe is known -Probes are allele specific PCR products are labeled with fluorescent dyes. Washed over microchips. Product will bind to specific probe based on complimentary base pairing –Position of label will show which probe bound.
- 24. VALIDATION OF SNP BY Tm SHIFT PRIMER short GC tail. (Allele1) long GC tail. (Allele 2)
- 25. ADVANTAGES & DIS-ADVANTAGES OF SNP It is a co- dominant marker. PCR products can be very small:–Markers will work with extremely degraded DNA samples. More common in genome. Sample processing may be completely automated. Disadvantages: Its PIC (polymorphic information content) is lower than microsatellite markers because,
- 26. APPLICATION Genetic variation between the members of same species. Gene discovery and mapping. Diagnostics/risk profiling. Response prediction. Homogeneity testing/study design. Gene function identification.
- 27. REFERENCES Aquaculture Genome Technology- Zhanjiang (John) Liu. Next Generation Sequencing and Whole Genome Selection in Aquaculture- Zhanjiang (John) Liu www.wikipedia.com