This document discusses mutations, mutagens, and carcinogens. It defines mutations as heritable changes in DNA sequences and describes spontaneous mutations which occur naturally and induced mutations caused by mutagens. Mutagens are physical or chemical agents that cause mutations, and carcinogens are mutagens that can induce cancer. The document outlines different types of mutagens including physical mutagens like radiation and chemical mutagens such as alkylating agents. It also describes the Ames test, a common method for detecting mutagenic activity, and different types of mutations including base substitutions and frameshift mutations. In summary, the document provides an overview of mutations, their causes, methods to detect mutagens, and the relationship between mutations and cancer.
This document summarizes molecular basis of mutations. It defines mutations as changes in genetic information and describes different types of mutations including point mutations, chromosomal mutations, germline mutations and somatic mutations. It also discusses various mutagens responsible for mutations like chemical mutagens such as alkylating agents, base analogs and reactive oxygen species, and physical mutagens like UV radiation and ionizing radiation. The mechanisms of different mutagens and types of mutations based on their phenotypic effects are also summarized.
This document summarizes DNA mutation and repair mechanisms. It discusses Lamarck and Darwin's theories of heredity and adaptation. It describes different types of mutations like substitutions, deletions, and frameshifts. Experiments by Luria and Delbrück tested Lamarck and Darwin's theories. The document also discusses DNA repair mechanisms in cells, spontaneous mutations from replication errors, and induced mutations from radiation, chemicals and intercalating agents. The Ames test is described to detect mutagens and carcinogens. Site-specific mutagenesis techniques like PCR can introduce mutations into genes.
Mutations can be caused by natural processes during DNA replication like spontaneous errors or by environmental agents. Spontaneous mutations occur due to base pair wobble or chemical changes like depurination. The rate is 10-4 to 10-6 per gene per generation in eukaryotes. Environmental agents or mutagens that can induce mutations include base analogs, alkylating agents, deamination, hydroxylamine, reactive oxygen, intercalating agents, and radiation. These mutagens cause changes by incorporating inappropriate bases, adding alkyl groups, deaminating bases, adding hydroxyl groups, oxidative damage, distorting DNA structure, and breaking bonds respectively.
This document summarizes DNA mutation and repair. It defines different types of mutations such as substitutions, deletions, insertions and rearrangements. It also describes mutation rate and frequency. The main types of point mutations are base pair substitutions including transitions and transversions. Various mutations can result in missense, nonsense, neutral, silent or frameshift changes. Reverse, suppressor and intergenic suppressor mutations are also discussed. Causes of mutations include spontaneous processes like depurination and deamination or exposure to mutagens such as radiation, chemicals or intercalating agents. Methods to detect mutations include the Ames test. DNA repair mechanisms aim to correct errors and include proofreading, photoreactivation, demethylation and nucleotide exc
Mutations are changes in genetic material that can be passed from parent cells to daughter cells. There are two main types of mutations:
1. Spontaneous mutations arise from errors in DNA replication and can include base pair substitutions like transitions/transversions and frameshift mutations from insertions/deletions of bases.
2. Induced mutations are caused by external mutagenic agents like chemicals or radiation that alter DNA structure.
Mutations can have varying effects depending on if they result in nonsense/missense amino acid changes or are silent/neutral. Frameshift mutations alter all codons after the mutation. Mutations are an important source of genetic variation and play a role in evolution.
This document discusses spontaneous and induced mutations, as well as genetic mosaics. It defines mutations as heritable changes in DNA that are important for genetics studies. Spontaneous mutations occur naturally through errors in DNA replication or chemical changes. Induced mutations are caused by environmental agents like radiation or chemicals. Genetic mosaics occur when cells in an individual have different genotypes due to mutations arising during early development. This can result in conditions like intersex traits or milder forms of genetic disorders.
Mutations are heritable changes in DNA that occur spontaneously due to errors in DNA replication or are induced by environmental mutagens like chemicals or radiation. Spontaneous mutations arise from replication errors or chemical changes to bases, while induced mutations are caused by agents that damage DNA like base analogs, alkylating agents, or radiation. Genetic mosaics occur when two or more cell populations with different genotypes arise from a single fertilized egg due to mitotic errors, causing somatic or gonadal mosaicism.
Mutations are changes in DNA sequence that may occur naturally during DNA replication or be caused by mutagens. There are two types of mutations: somatic mutations, which occur in somatic cells and are not inherited, and germline mutations, which occur in gametes and are passed to offspring. Mutations can be caused by physical mutagens like radiation or chemical mutagens like mustard gas. Chromosomal mutations include deletions, inversions, translocations, duplications, and aneuploidy. Gene mutations include frameshift, substitution, insertion, and deletion mutations. Several databases track somatic mutations in cancer genomes, including COSMIC, ICGC, and TCGA.
This document summarizes molecular basis of mutations. It defines mutations as changes in genetic information and describes different types of mutations including point mutations, chromosomal mutations, germline mutations and somatic mutations. It also discusses various mutagens responsible for mutations like chemical mutagens such as alkylating agents, base analogs and reactive oxygen species, and physical mutagens like UV radiation and ionizing radiation. The mechanisms of different mutagens and types of mutations based on their phenotypic effects are also summarized.
This document summarizes DNA mutation and repair mechanisms. It discusses Lamarck and Darwin's theories of heredity and adaptation. It describes different types of mutations like substitutions, deletions, and frameshifts. Experiments by Luria and Delbrück tested Lamarck and Darwin's theories. The document also discusses DNA repair mechanisms in cells, spontaneous mutations from replication errors, and induced mutations from radiation, chemicals and intercalating agents. The Ames test is described to detect mutagens and carcinogens. Site-specific mutagenesis techniques like PCR can introduce mutations into genes.
Mutations can be caused by natural processes during DNA replication like spontaneous errors or by environmental agents. Spontaneous mutations occur due to base pair wobble or chemical changes like depurination. The rate is 10-4 to 10-6 per gene per generation in eukaryotes. Environmental agents or mutagens that can induce mutations include base analogs, alkylating agents, deamination, hydroxylamine, reactive oxygen, intercalating agents, and radiation. These mutagens cause changes by incorporating inappropriate bases, adding alkyl groups, deaminating bases, adding hydroxyl groups, oxidative damage, distorting DNA structure, and breaking bonds respectively.
This document summarizes DNA mutation and repair. It defines different types of mutations such as substitutions, deletions, insertions and rearrangements. It also describes mutation rate and frequency. The main types of point mutations are base pair substitutions including transitions and transversions. Various mutations can result in missense, nonsense, neutral, silent or frameshift changes. Reverse, suppressor and intergenic suppressor mutations are also discussed. Causes of mutations include spontaneous processes like depurination and deamination or exposure to mutagens such as radiation, chemicals or intercalating agents. Methods to detect mutations include the Ames test. DNA repair mechanisms aim to correct errors and include proofreading, photoreactivation, demethylation and nucleotide exc
Mutations are changes in genetic material that can be passed from parent cells to daughter cells. There are two main types of mutations:
1. Spontaneous mutations arise from errors in DNA replication and can include base pair substitutions like transitions/transversions and frameshift mutations from insertions/deletions of bases.
2. Induced mutations are caused by external mutagenic agents like chemicals or radiation that alter DNA structure.
Mutations can have varying effects depending on if they result in nonsense/missense amino acid changes or are silent/neutral. Frameshift mutations alter all codons after the mutation. Mutations are an important source of genetic variation and play a role in evolution.
This document discusses spontaneous and induced mutations, as well as genetic mosaics. It defines mutations as heritable changes in DNA that are important for genetics studies. Spontaneous mutations occur naturally through errors in DNA replication or chemical changes. Induced mutations are caused by environmental agents like radiation or chemicals. Genetic mosaics occur when cells in an individual have different genotypes due to mutations arising during early development. This can result in conditions like intersex traits or milder forms of genetic disorders.
Mutations are heritable changes in DNA that occur spontaneously due to errors in DNA replication or are induced by environmental mutagens like chemicals or radiation. Spontaneous mutations arise from replication errors or chemical changes to bases, while induced mutations are caused by agents that damage DNA like base analogs, alkylating agents, or radiation. Genetic mosaics occur when two or more cell populations with different genotypes arise from a single fertilized egg due to mitotic errors, causing somatic or gonadal mosaicism.
Mutations are changes in DNA sequence that may occur naturally during DNA replication or be caused by mutagens. There are two types of mutations: somatic mutations, which occur in somatic cells and are not inherited, and germline mutations, which occur in gametes and are passed to offspring. Mutations can be caused by physical mutagens like radiation or chemical mutagens like mustard gas. Chromosomal mutations include deletions, inversions, translocations, duplications, and aneuploidy. Gene mutations include frameshift, substitution, insertion, and deletion mutations. Several databases track somatic mutations in cancer genomes, including COSMIC, ICGC, and TCGA.
Unit_III_Alterations_in_Genetic_Material - part 1.pdfRohiniKeshava1
Hugo de Vries was a Dutch botanist who is considered one of the first geneticists. In the 1890s, he rediscovered the laws of heredity and introduced the term "mutation" to describe sudden appearing variations in plants. In 1900-1903, he published his mutation theory of evolution, proposing that evolution occurs more frequently through sudden changes via mutations rather than gradual changes as Darwin suggested. A mutation is a sudden change in genetic material that can be passed to daughter cells. Mutations provide variation important for evolution and can cause human medical conditions. They can occur through spontaneous processes like DNA replication errors or be induced by external mutagens like chemicals or radiation.
Mutations introduce heritable changes in an organism's genetic material. They occur spontaneously due to errors in DNA replication or due to exposure to mutagens. There are two main types of mutations: spontaneous mutations, which occur without external causes, and induced mutations, which are caused by mutagenic agents. Spontaneous mutations result from replication errors or transposable elements, and include transitions, transversions, and frameshift mutations. Induced mutations are caused by mutagens that damage DNA, such as base analogs, agents causing specific mispairing, intercalating agents, and substances like UV radiation. Mutations can have various effects that may or may not result in an observable change in phenotype, depending on whether they are
Mutation refers to heritable changes in genetic material that are the ultimate source of genetic variation and help organisms adapt to their environment. There are two main types of mutations - somatic mutations, which occur in body cells and are not passed to offspring, and germline mutations, which occur in sex cells and are heritable. Mutations can occur spontaneously due to errors in DNA replication or DNA damage from environmental mutagens like chemicals and radiation. Common types of mutations include point mutations, which change a single nucleotide, and frameshift mutations, which insert or delete nucleotides and alter the reading frame. DNA repair mechanisms have evolved to correct mutations and maintain genetic integrity.
Mutations are changes in DNA sequences that can occur due to errors in DNA replication or exposure to mutagens. There are several types of mutations including point mutations, which involve a single nucleotide change, and chromosomal mutations, which involve changes in larger chromosome structures. Point mutations can be further classified as transitions, transversions, frameshifts, insertions, and deletions. Chromosomal mutations include aneuploidy, which is an abnormal number of chromosomes, and polyploidy, which involves multiple sets of chromosomes. Mutations can be beneficial by creating genetic variation for evolution, but can also cause genetic disorders. Hugo de Vries originally coined the term mutation in the late 19th century and early studies helped uncover the mechanisms
1. Mutation is a permanent alteration in the DNA sequence that makes up a gene or chromosome. There are several types of mutations including point mutations, frameshift mutations, deletions, duplications, inversions, and translocations.
2. Point mutations involve a change to a single nucleotide base, such as a substitution, insertion or deletion. Frameshift mutations occur when multiple nucleotides are inserted or deleted, changing the reading frame.
3. Mutations can be caused by errors during DNA replication or by environmental mutagens like radiation or chemicals. They can occur in somatic cells or germ cells and be transmitted to offspring. Most mutations are harmful but some can provide benefits for adaptation or evolution.
This document discusses different types of mutations including gene mutations, chromosome mutations, and mutations caused by changes in ploidy level. It describes various chromosomal aberrations such as deletions, duplications, inversions, and translocations. It also discusses the causes of mutations, including radiation, chemicals, base analogs, and changes to DNA structure. Mutations can be induced artificially using mutagenic agents like radiation or chemicals to increase the mutation rate above spontaneous levels. Induced mutations have been observed in fish through X-irradiation and chemical treatment of gametes.
Effect of mutation on plant at molecular level and their repair mechanismAnkit R. Chaudhary
1. Mutations at the molecular level involve changes to the nucleotide sequence of genes, such as base substitutions where one base is replaced by another, or base additions and deletions.
2. Mutations can be caused by mistakes during DNA replication or by exposure to mutagenic agents like radiation or chemicals, and they result in heritable changes to DNA sequences.
3. Cells have various DNA repair mechanisms to correct damage to DNA and prevent mutations, but some changes still escape repair and may be replicated, accumulating mutations over time that can lead to conditions like cancer.
This document discusses mutagenesis, which is the process by which DNA changes, resulting in gene mutations. Mutations can be caused by DNA replication errors, DNA damage from mutagens like radiation or chemicals, or molecular genetic techniques. There are different types of mutations that can result in silent, missense, nonsense, or frameshift changes to proteins. Mutagenesis drives evolution by creating genetic variation but can also cause diseases. Common mutagens include radiation, UV light, chemicals, viruses and bacteria. The document provides examples of different mutations and diseases they can cause, like sickle cell disease and cystic fibrosis.
Mutation is a change in genetic makeup, either through changes in genes (point mutations) or chromosomes (structural mutations). Point mutations include substitutions, insertions, deletions, and frameshifts of nucleotides. Structural mutations involve changes in chromosome structure like deficiencies, duplications, inversions, and translocations. Chromosomal number mutations are called ploidy changes, and include aneuploidy (extra or missing individual chromosomes) and euploidy (whole sets of chromosomes). Mutation can occur spontaneously during DNA replication or be induced by mutagenic agents like radiation or chemicals.
This document discusses various types of mutations that can occur during strain development for industrial biotechnology. It describes spontaneous and induced mutations, including point mutations like substitutions, deletions, and insertions. Transposons and errors in DNA replication and repair enzymes can also cause mutations. Specific types of point mutations are discussed in detail, such as silent, missense, and nonsense mutations. Frameshift mutations that alter the reading frame are also summarized. The goal of strain development is to generate mutants with improved product yields and lower costs through targeted or random mutagenesis.
Mutations are changes in the nucleotide sequence of DNA that can ultimately change phenotypes. Mutations can occur in somatic cells or gametes and be passed to offspring. Most mutations are neutral or repaired by enzymes, but some can be harmful, like those that cause cancers, or beneficial by improving survival. There are two main types of mutations: chromosomal mutations, which involve changes in chromosome structure like deletions or duplications; and point mutations, where a single nucleotide is changed, as in sickle cell disease. Point mutations can be missense, nonsense, or frameshift, all of which can result in defective proteins if they occur in genes.
The document summarizes a case study where the whole genomes of six gamma-irradiated rice plants were sequenced to identify mutations induced by radiation exposure. High-quality sequencing data was obtained and analyzed to detect single nucleotide substitutions, short insertions/deletions, and structural variations compared to the reference genome. The identified mutations were further validated using PCR analysis. The study demonstrates how whole genome sequencing can be used to characterize mutations induced in plants by gamma radiation exposure.
Polyploidy, mutation and hybridization with reference to medicinal plantsSiddhartha Das
This document discusses genetics as applied to medicinal plants, including polyploidy, mutation, and hybridization. It provides background on genetics concepts like genes, DNA structure, mitosis, and meiosis. It then discusses types of mutations like point mutations and chromosomal mutations that can be spontaneous or induced through mutagens like radiation, chemicals, or abnormal environments. Polyploidy is described as having multiple chromosome sets and being induced by chemicals like colchicine, which can increase yield of compounds in some medicinal plants. Hybridization is the crossing of different species or varieties to produce hybrids with new combinations of traits.
Mutations are changes in DNA sequences that can occur at the gene, chromosome, or genome level. There are several types of mutations including point mutations, frameshift mutations, deletions, duplications, inversions, translocations, aneuploidy and polyploidy. Mutations can be neutral, beneficial, or harmful depending on their effects. Examples of mutations discussed include sickle cell anemia caused by a point mutation in the hemoglobin gene and Down syndrome caused by trisomy 21.
1) The document discusses different types of gene and chromosome mutations including point mutations like substitution, and frameshift mutations like insertion and deletion.
2) It provides examples of genetic disorders caused by different mutations, such as sickle cell anemia caused by a substitution mutation and beta thalassemia caused by a deletion in the beta globin gene.
3) Chromosome mutations can involve changes in chromosome number, like aneuploidy, or structure, through inversions or translocations.
1. The presentation discusses various types of mutations including substitutions, insertions, deletions, and frameshifts.
2. It explains the molecular basis of mutations including that DNA contains genetic instructions encoded by sequences of bases and that mutations occur when the DNA sequence changes.
3. The causes of mutations are discussed as DNA replication errors, external influences like chemicals or radiation, and during processes like genetic recombination.
Mutations are changes in the nucleotide sequence of DNA that can occur spontaneously due to errors in DNA replication or be induced by external agents called mutagens. Spontaneous mutations arise from damage to DNA or replication errors while induced mutations are caused artificially by physical mutagens like radiation or chemical mutagens like nitrous acid. Mutations can be point mutations involving a single nucleotide change or frameshift mutations caused by insertions or deletions that shift the reading frame of DNA. The effects of point mutations include silent, missense, and nonsense mutations. Frameshift mutations often result in premature protein termination or non-functional proteins.
this presentation is based on gene mutation and its types.
Video lecture in Urdu is available at:
https://www.youtube.com/watch?v=MNBWAK-qKbY&t=10s
Subscribe 'the eBotany' for more informative stuff.
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Unit_III_Alterations_in_Genetic_Material - part 1.pdfRohiniKeshava1
Hugo de Vries was a Dutch botanist who is considered one of the first geneticists. In the 1890s, he rediscovered the laws of heredity and introduced the term "mutation" to describe sudden appearing variations in plants. In 1900-1903, he published his mutation theory of evolution, proposing that evolution occurs more frequently through sudden changes via mutations rather than gradual changes as Darwin suggested. A mutation is a sudden change in genetic material that can be passed to daughter cells. Mutations provide variation important for evolution and can cause human medical conditions. They can occur through spontaneous processes like DNA replication errors or be induced by external mutagens like chemicals or radiation.
Mutations introduce heritable changes in an organism's genetic material. They occur spontaneously due to errors in DNA replication or due to exposure to mutagens. There are two main types of mutations: spontaneous mutations, which occur without external causes, and induced mutations, which are caused by mutagenic agents. Spontaneous mutations result from replication errors or transposable elements, and include transitions, transversions, and frameshift mutations. Induced mutations are caused by mutagens that damage DNA, such as base analogs, agents causing specific mispairing, intercalating agents, and substances like UV radiation. Mutations can have various effects that may or may not result in an observable change in phenotype, depending on whether they are
Mutation refers to heritable changes in genetic material that are the ultimate source of genetic variation and help organisms adapt to their environment. There are two main types of mutations - somatic mutations, which occur in body cells and are not passed to offspring, and germline mutations, which occur in sex cells and are heritable. Mutations can occur spontaneously due to errors in DNA replication or DNA damage from environmental mutagens like chemicals and radiation. Common types of mutations include point mutations, which change a single nucleotide, and frameshift mutations, which insert or delete nucleotides and alter the reading frame. DNA repair mechanisms have evolved to correct mutations and maintain genetic integrity.
Mutations are changes in DNA sequences that can occur due to errors in DNA replication or exposure to mutagens. There are several types of mutations including point mutations, which involve a single nucleotide change, and chromosomal mutations, which involve changes in larger chromosome structures. Point mutations can be further classified as transitions, transversions, frameshifts, insertions, and deletions. Chromosomal mutations include aneuploidy, which is an abnormal number of chromosomes, and polyploidy, which involves multiple sets of chromosomes. Mutations can be beneficial by creating genetic variation for evolution, but can also cause genetic disorders. Hugo de Vries originally coined the term mutation in the late 19th century and early studies helped uncover the mechanisms
1. Mutation is a permanent alteration in the DNA sequence that makes up a gene or chromosome. There are several types of mutations including point mutations, frameshift mutations, deletions, duplications, inversions, and translocations.
2. Point mutations involve a change to a single nucleotide base, such as a substitution, insertion or deletion. Frameshift mutations occur when multiple nucleotides are inserted or deleted, changing the reading frame.
3. Mutations can be caused by errors during DNA replication or by environmental mutagens like radiation or chemicals. They can occur in somatic cells or germ cells and be transmitted to offspring. Most mutations are harmful but some can provide benefits for adaptation or evolution.
This document discusses different types of mutations including gene mutations, chromosome mutations, and mutations caused by changes in ploidy level. It describes various chromosomal aberrations such as deletions, duplications, inversions, and translocations. It also discusses the causes of mutations, including radiation, chemicals, base analogs, and changes to DNA structure. Mutations can be induced artificially using mutagenic agents like radiation or chemicals to increase the mutation rate above spontaneous levels. Induced mutations have been observed in fish through X-irradiation and chemical treatment of gametes.
Effect of mutation on plant at molecular level and their repair mechanismAnkit R. Chaudhary
1. Mutations at the molecular level involve changes to the nucleotide sequence of genes, such as base substitutions where one base is replaced by another, or base additions and deletions.
2. Mutations can be caused by mistakes during DNA replication or by exposure to mutagenic agents like radiation or chemicals, and they result in heritable changes to DNA sequences.
3. Cells have various DNA repair mechanisms to correct damage to DNA and prevent mutations, but some changes still escape repair and may be replicated, accumulating mutations over time that can lead to conditions like cancer.
This document discusses mutagenesis, which is the process by which DNA changes, resulting in gene mutations. Mutations can be caused by DNA replication errors, DNA damage from mutagens like radiation or chemicals, or molecular genetic techniques. There are different types of mutations that can result in silent, missense, nonsense, or frameshift changes to proteins. Mutagenesis drives evolution by creating genetic variation but can also cause diseases. Common mutagens include radiation, UV light, chemicals, viruses and bacteria. The document provides examples of different mutations and diseases they can cause, like sickle cell disease and cystic fibrosis.
Mutation is a change in genetic makeup, either through changes in genes (point mutations) or chromosomes (structural mutations). Point mutations include substitutions, insertions, deletions, and frameshifts of nucleotides. Structural mutations involve changes in chromosome structure like deficiencies, duplications, inversions, and translocations. Chromosomal number mutations are called ploidy changes, and include aneuploidy (extra or missing individual chromosomes) and euploidy (whole sets of chromosomes). Mutation can occur spontaneously during DNA replication or be induced by mutagenic agents like radiation or chemicals.
This document discusses various types of mutations that can occur during strain development for industrial biotechnology. It describes spontaneous and induced mutations, including point mutations like substitutions, deletions, and insertions. Transposons and errors in DNA replication and repair enzymes can also cause mutations. Specific types of point mutations are discussed in detail, such as silent, missense, and nonsense mutations. Frameshift mutations that alter the reading frame are also summarized. The goal of strain development is to generate mutants with improved product yields and lower costs through targeted or random mutagenesis.
Mutations are changes in the nucleotide sequence of DNA that can ultimately change phenotypes. Mutations can occur in somatic cells or gametes and be passed to offspring. Most mutations are neutral or repaired by enzymes, but some can be harmful, like those that cause cancers, or beneficial by improving survival. There are two main types of mutations: chromosomal mutations, which involve changes in chromosome structure like deletions or duplications; and point mutations, where a single nucleotide is changed, as in sickle cell disease. Point mutations can be missense, nonsense, or frameshift, all of which can result in defective proteins if they occur in genes.
The document summarizes a case study where the whole genomes of six gamma-irradiated rice plants were sequenced to identify mutations induced by radiation exposure. High-quality sequencing data was obtained and analyzed to detect single nucleotide substitutions, short insertions/deletions, and structural variations compared to the reference genome. The identified mutations were further validated using PCR analysis. The study demonstrates how whole genome sequencing can be used to characterize mutations induced in plants by gamma radiation exposure.
Polyploidy, mutation and hybridization with reference to medicinal plantsSiddhartha Das
This document discusses genetics as applied to medicinal plants, including polyploidy, mutation, and hybridization. It provides background on genetics concepts like genes, DNA structure, mitosis, and meiosis. It then discusses types of mutations like point mutations and chromosomal mutations that can be spontaneous or induced through mutagens like radiation, chemicals, or abnormal environments. Polyploidy is described as having multiple chromosome sets and being induced by chemicals like colchicine, which can increase yield of compounds in some medicinal plants. Hybridization is the crossing of different species or varieties to produce hybrids with new combinations of traits.
Mutations are changes in DNA sequences that can occur at the gene, chromosome, or genome level. There are several types of mutations including point mutations, frameshift mutations, deletions, duplications, inversions, translocations, aneuploidy and polyploidy. Mutations can be neutral, beneficial, or harmful depending on their effects. Examples of mutations discussed include sickle cell anemia caused by a point mutation in the hemoglobin gene and Down syndrome caused by trisomy 21.
1) The document discusses different types of gene and chromosome mutations including point mutations like substitution, and frameshift mutations like insertion and deletion.
2) It provides examples of genetic disorders caused by different mutations, such as sickle cell anemia caused by a substitution mutation and beta thalassemia caused by a deletion in the beta globin gene.
3) Chromosome mutations can involve changes in chromosome number, like aneuploidy, or structure, through inversions or translocations.
1. The presentation discusses various types of mutations including substitutions, insertions, deletions, and frameshifts.
2. It explains the molecular basis of mutations including that DNA contains genetic instructions encoded by sequences of bases and that mutations occur when the DNA sequence changes.
3. The causes of mutations are discussed as DNA replication errors, external influences like chemicals or radiation, and during processes like genetic recombination.
Mutations are changes in the nucleotide sequence of DNA that can occur spontaneously due to errors in DNA replication or be induced by external agents called mutagens. Spontaneous mutations arise from damage to DNA or replication errors while induced mutations are caused artificially by physical mutagens like radiation or chemical mutagens like nitrous acid. Mutations can be point mutations involving a single nucleotide change or frameshift mutations caused by insertions or deletions that shift the reading frame of DNA. The effects of point mutations include silent, missense, and nonsense mutations. Frameshift mutations often result in premature protein termination or non-functional proteins.
this presentation is based on gene mutation and its types.
Video lecture in Urdu is available at:
https://www.youtube.com/watch?v=MNBWAK-qKbY&t=10s
Subscribe 'the eBotany' for more informative stuff.
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By Dr. Vinod Kumar Kanvaria
How to Make a Field Mandatory in Odoo 17Celine George
In Odoo, making a field required can be done through both Python code and XML views. When you set the required attribute to True in Python code, it makes the field required across all views where it's used. Conversely, when you set the required attribute in XML views, it makes the field required only in the context of that particular view.
Main Java[All of the Base Concepts}.docxadhitya5119
This is part 1 of my Java Learning Journey. This Contains Custom methods, classes, constructors, packages, multithreading , try- catch block, finally block and more.
This presentation includes basic of PCOS their pathology and treatment and also Ayurveda correlation of PCOS and Ayurvedic line of treatment mentioned in classics.
2. Outline
• Mutations and their causes
• Mutagens and carcinogens
• Mutagenicity tests
• Types of Mutations
• Mutations and Cancer
3. Learning Outcomes
• Describe Mutations and their causes
• Describe types of mutations
• Distinguish mutagens from
carcinogens
• Describe mutagenicity tests
• Link mutations with cancer
4. Background history of
Mutations
• In 179, Seth Wright identified a male lamb with
abnormal short limb (Ancon sheep)
• Hugo de Vries used the term “Mutation” for the
first time in 1900
• In 1904 Morgan identified a white eye mutant of
Drosophila flies in a population of red eyed flies
• In 1927 H.J. Muller induced mutations in
Drosophila using X-rays and was awarded a
Nobel prize in 1946
5. What are Mutations?
• They are heritable changes in the genetic
materials caused by alterations of the nucleotide
sequence in the DNA.
• Mutations can happen to Somatic cells and
Germ-line cells
• They give rise to alternative forms of a gene also
known as Alleles
6. Mutations..
• Key words
• Wild type: a form of a gene which the
nucleotide sequence of that gene is
characteristic of that specie.
• E.g. AGTCGTCGAGT normal
• AGTGGTCGAGT mutant
• Also known as Standard, Normal or
Reference genotype.
7. Mutations..
• Key words
• Forward Mutations:
• Are mutations which causes a gene to change
from the wild type to the mutant form.
• Reverse Mutations:
• Are mutations which causes a gene to change
from the mutant type back to the wild type
8. What causes Mutations?
• Mutations can occur spontaneously or they can be
induced by some factors.
• Spontaneous mutation:
• They happen due to instability of DNA bases not
associated with chemicals or physical factors.
• DNA bases (A,T,C,G) can exist in alternative
chemical forms known as Tautomer
9. Spontaneous Mutations..
• Tautomer forms of DNA bases are also known
as the “Normal” and “Rare” forms of the bases.
• In its rare forms, bases can join with incorrect
partners resulting to mismatched base pairs
• e.g. rare form of Cytosine(C*) pairs with
Adenine, and rare form of thymine(T*) pairs with
Guanine
12. Spontaneous Mutations..
• Deamination can also lead to mutations in Nucleotide
base pairs.
• Cytosine loses the Amino group to form Uracil,
which pairs with Adenine instead of a C—G bonds.
• Adenine loses the amino group to form Hypoxanthine
which base pairs with cytosine instead of thymine.
• The types of mutations arising from this processes are
known as Transitions and Tranversions
13. • Adenine loses amino
group to form
Hypoxanthine
• Cytosine loose amino
group and forms Uracil
14. Induced Mutations
• These are Mutations which are caused by
influence from environmental changes.
• Physical and Chemical Factors called
Mutagens causes the induced mutations.
15. Mutagens
• A physical or chemical agent with the ability to cause
mutations.
• Carcinogens are mutagens with the ability to cause
cancer
• Pro mutagens are not mutagenic themselves but
can form mutagenic metabolite through cellular
processes.
• Mutagens were first identified in 1927 by Muller who
used X-rays to cause mutations in fruit flies.
16. Effects of Mutagens
• They can cause changes in the DNA that affects
replication and transcription of the DNA
• They can cause a loss of function of a gene
• Some powerful mutagens can lead to
chromosomal breakage and rearrangements
17. Types of Mutagens
• Mutagens can be categorized into two types:
I. Physical mutagens
II. Chemical Mutagens
• Physical mutagens
• They include the ionizing and non-ionizing
radiations such as X-rays, Gamma rays and
UV light
18. Physical Mutagens
• X- rays and Gamma rays causes formation of
single stranded and double stranded DNA
breakages.
• Repairing of Double stranded breakages
frequently occurs improperly and causes
mutations
• UV light causes the formation of pyrimidine
dimers leading to errors of DNA replication
19. Chemical Mutagens
• They Include:
o Base analogues
o Alkylating Agents
o Intercalating agents
o DNA reactive chemicals
20. Chemical Mutagens..
• Base analogues
• They are similar to the Normal bases and can
be incorporated in DNA strands during
replication.
• 5-Bromouracil (BU) is identical to thymine
and it can exist in a “rare” form.
• In its rare form BU base pairs with Guanine
causing a change from TA to GC base
pairing.
22. Chemical Mutagens..
• Alkylating agents
• They alter one of the DNA bases and prevent it from
forming hydrogen bonds with other bases.
• Ethylmethane sulfonate adds alkyl group to the
hydrogen-bonding oxygen in Guanine preventing it
to bond with cytosine.
• Alkylated guanine bonds with thymine instead
resulting to a TA substitution from GC
23. Chemical Mutagens..
• Intercalating Agent
• They have a similar dimension to the normal
purine-pyrimidine base pair
• They include Ethidium bromide and acridine
orange
• They can insert themselves between the
nucleotide base pairs within the DNA double
helix
24. Chemical mutagens..
• Intercalating Agents
• Replication of an intercalated DNA will result to
addition of one or more bases in the new DNA
strand or a deletion of a single base
• Addition or deletion of the bases causes a
change in the ORF therefore affecting the amino
acids.
• This causes a Frame shift Mutation.
25. Chemical mutagens
• DNA reactive chemicals
• Are chemicals that interact directly with DNA to
cause mutations
• They include Deamination agents
• Nitrous Acid causes the lose of an amino group
from Cytosine resulting to Uracil
• This causes a transition mutation from a CG
base pair to AT
26. Mutagenicity test
• Ames Test (Bacterial Reverse Mutation Assay)
• Is the test to determine the mutagenic activity of
a chemical by observing whether they can cause
mutations or not.
• It was established in 1970 by Prof. Bruce Ames
• It is quick and convenient assay compared to
others which takes 2-3 years with a lot of false
positives and negatives
27. Ames Test..
• Basics of the Ames test:
• The assays uses the mutant bacteria Salmonella
typhimurium (His-) to asses the ability of a test
chemical to cause reverse mutations to the wild type
Salmonella typhimurium (His+)
• Mutant Salmonella typhimurium 40 can not grow in
the absence of histidine amino acids while the wild
type can synthesize histidine
28. Ames test..
• Requirements:
• Positive Control (chemical known to be mutagenic)
• Negative Control (chemical known to be non
Mutagenic
• Suspected mutagenic chemical
• Mutant Salmonella typhimurium (His-)
• Rat Liver enzyme ( to mimic metabolic changes a
mutagen can experience in the body
• Histidine free medium, Colony counter
29. Ames test..
• Three petri dishes containing histidine free
media are prepared
• To plate one, and two add rat liver extract, a
positive control, and Negative control
• To plate three add the suspected mutagenic
chemical and rat liver extract
• To the plates the mutant Salmonella
typhimurium bacteria is inoculated
• Incubate and observe bacterial colonies growth
30. Ames test..
• When a chemical is mutagenic:
• The mutant bacteria colonies will be observed in
histidine free media
• This is caused by the chemical capacity to cause a
reverse mutation that enables the bacteria to regain
the ability to biosynthesize the amino acid histidine
• Ethylene dibromide, 2-aminofluorene and Safrole
are examples of Ames positive chemicals
33. Gene Mutations
• A gene mutation is a change in the genetic
material which affect one or more nucleotide
bases.
• A gene mutation is also known as a Point
Mutation
• Point Mutation is further categorized into
Base Substitution Mutations and
Frame Shift Mutations
34. Base substitution
mutations
• They are changes in the Nucleotide sequences
that substitutes one Nucleotide base for the
other.
• They can be categorized in three groups based
on the effect they have on amino acids and the
formed protein
Missense
Non sense
Silent mutation
35. Missense Mutation
• They change the nucleotide sequence such that
one amino acid is replaced by the other
• If the changed amino acid is important for the
protein to be formed, the consequence of the
mutation is more pronounced
• In sickle cell anemia GAG is changed to GTG
coding for Valine instead of Glutamic acid
36. Non sense mutation
• These mutations introduces the stop codons (
UGA,UAA and UAG) to the messenger RNA
• They result to formation of protein that are
shorter than the normal protein (Truncated
proteins)
• This makes the proteins formed to be non
functional
37. Silent Mutations
• This mutations results to a different base in the
third position of a codon.
• If the new codon formed specifies the same
amino acid hence there will be no observable
changes in the amino acid composition of a
protein
38. Frame Shift Mutations
• This are mutations which affects the Open
Reading Frame (ORF) through insertion or
deletion of a single base.
• Insertion or deletion of a base pair leads to a
change in the codons.
• Frame shift mutations leads to formation of non
functional proteins, because of a substitution of
an amino acid codon to a stop codon .
39. Frame Shift Mutations
• Sometimes in-frame insertion of three bases to the
mRNA happens.
• The impacts of in-frame insertion depends on the
properties of the coded amino acid and the
position in the formed proteins.
• In-frame deletion may lead to loss of function of a
protein as it is in Cystic Fibrosis disease.
• In Cystic Fibrosis a codon TTT for phenylalanine is
deleted hence the ATP binding site of the protein
is lost.
40. Chromosomal Mutations
• They are categorized into four
groups:
Deletions
Duplications
Inversions and
Translocations.
41. Chromosomal Mutations
• Deletions:
• Are chromosomal changes in which one or more
segment of a gene is lost.
• Most chromosomal deletion are lethal unless
they affect non essential genes.
• Deletions can be caused by breaks in the
chromosomes which results from exposure to
heat, radiation or exposure to chemicals
43. Chromosomal Mutations
• Duplication
• Are chromosomal changes by which one or
more copies of a gene are present on the same
chromosome
• This mutation results to doubling of a segment of
a chromosome.
• Two homologous chromosomes may have a
deletion and duplication mutation in the non-
homologous position at the same time
45. Chromosomal Mutations
• Inversion :
• This mutation occurs when a segment of a
Chromosome is cut and rotated at 180 0 and re-
inserted to the chromosome
• If the cut segment carries a part of a protein
coding , the resulting protein will be drastically
changed and non-functional.
47. Chromosomal Mutations
• Translocation
• This occurs when a segment of chromosome is
cut and inserted to a different non-homologous
chromosomes.
• Reciprocal translocation occurs when two non
homologous chromosomes breaks and
exchange segments.
48.
49. Mutations and Cancer
• Cancer is caused by accumulation of genetic
mutations in genes regulating cell division
• This leads to uncontrolled cell growth.
• Three types of genes which when mutated
causes cancer
Genes that regulate cell proliferation
Genes that control Apoptosis
Genes involved in repair of damaged DNA
50. Mutations and Cancer
• These genes can be put into two broad
categories
Proto oncogenes (growth promoting)
Tumor suppressor genes (growth inhibiting)
Transitions mutations occurs when a purine is substituted by a purine or a pyrimidine is substituted by a pyrimidine
Traversing occurs when a pyrimidine is substituted by a purine and vice versa