Numerical chromosomal aberrations
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This document discusses various chromosomal conditions including euploidy, which is having a normal number of chromosomes, and aneuploidy, which is an abnormal number. It notes that diploidy is the normal condition with two sets of chromosomes, while aneuploidy can involve conditions like monosomy, nullisomy, trisomy, and tetrasomy where the number of certain chromosomes is altered.
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chromosomal aberrations in number
This document discusses numerical chromosomal aberrations. It defines euploidy as having an exact multiple of the haploid chromosome number, and aneuploidy as having more or less than the euploid number. The main types of euploidy are monoploidy, diploidy, and polyploidy. Polyploidy can be autopolyploidy, with identical chromosome sets, or allopolyploidy involving chromosomes from different species. Aneuploidy includes hypoploidy, with fewer chromosomes, and hyperploidy, with extras. Specific aneuploid conditions discussed are monosomy, nullisomy, trisomy, and tetrasomy.
Genetic linkage and crossing over
Genetic linkage refers to genes that are located close together on the same chromosome tending to be inherited together. Crossing over can break genetic linkage during meiosis by exchanging DNA between homologous chromosomes, producing recombinant gametes with new combinations of genes. The closer genes are on a chromosome, the less likely they are to be separated by crossing over. Crossing over increases genetic variation and plays an important role in plant and animal breeding.
Chromosome or gene mapping &Linkage analysis
This document discusses chromosome and gene mapping techniques. It describes how gene mapping is used to identify the location of genes and distances between genes on chromosomes. Two main types of maps are discussed - genetic maps based on linkage and physical maps using actual distances in base pairs. Molecular markers are described as polymorphic DNA sequences used to map genes. Methods for genetic mapping like linkage analysis and calculating recombination fractions are explained.
Utilization of polyploids and aneuploids in plants
This document discusses aneuploidy and polyploidy in plants. It defines aneuploidy as a change in chromosome number involving one or a few chromosomes. There are three main types of aneuploidy: monosomics lacking one chromosome, nullisomics lacking one chromosome pair, and polysomics with an extra chromosome or pair. Polyploidy refers to having more than two sets of chromosomes and includes autopolyploidy from genome doubling within a species and allopolyploidy from interspecific hybridization. Both aneuploidy and polyploidy can be used in plant breeding and crop improvement.
Numerical changes in chromosome
This document defines and describes various types of numerical changes in chromosomes, including euploidy, aneuploidy, polyploidy, and autopolyploidy vs allopolyploidy. It provides examples of polyploidy levels from haploidy to hexaploidy. It also discusses aneuploidy conditions including monosomy, nullisomy, trisomy, tetrasomy, pentasomy, hexasomy, and heptasomy. The key differences between autopolyploidy and allopolyploidy are that autopolyploidy involves multiple copies of chromosomes from the same species, while allopolyploidy involves chromosomes from different species.
Chromosomal abeeration
1. Chromosomal abnormalities are categorized as either numerical (change in number) or structural (change in structure).
2. Numerical abnormalities include aneuploidy (extra or missing single chromosomes) and euploidy (change in entire set).
3. Structural abnormalities include deletions, duplications, inversions, and translocations which alter chromosome structure through breaks and fusions.
4. Common aneuploidies in humans include Down syndrome (trisomy 21) and Turner syndrome (monosomy X). Common structural changes and their effects are described.
Presentation on Structure of Chromosomes
Chromosomes are organized structures found in cells that contain DNA and proteins. Each chromosome is made of DNA coiled around histone proteins. Chromosomes are located in the cell nucleus and are passed from parents to offspring. They are named because they can be stained with dyes. In most organisms, chromosomes occur in homologous pairs. The human body contains 23 pairs of chromosomes. Chromosomes condense and can be observed during cell division. They contain duplicated copies called sister chromatids joined at the centromere. Chemically, chromosomes contain DNA, RNA, histone and non-histone proteins, and metal ions. According to the folded fiber model, each chromosome consists of a single DNA molecule wrapped around proteins and folded into a
Presentation on Numerical Chromosomal Aberration
This document summarizes different types of chromosomal aberrations:
- Numerical chromosomal aberrations occur when there are extra or missing chromosomes compared to the normal number, resulting in conditions like aneuploidy. Common aneuploidies include trisomy (extra chromosome), monosomy (missing chromosome), and tetrasomy (four of a chromosome).
- Polyploidy refers to organisms having more than two complete sets of chromosomes. Autopolyploidy involves multiple sets of the same genome, while allopolyploidy involves hybridization between species followed by chromosome doubling. Important natural and artificial allopolyploids include wheat, cotton, and triticale.
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chromosomal aberrations in number
This document discusses numerical chromosomal aberrations. It defines euploidy as having an exact multiple of the haploid chromosome number, and aneuploidy as having more or less than the euploid number. The main types of euploidy are monoploidy, diploidy, and polyploidy. Polyploidy can be autopolyploidy, with identical chromosome sets, or allopolyploidy involving chromosomes from different species. Aneuploidy includes hypoploidy, with fewer chromosomes, and hyperploidy, with extras. Specific aneuploid conditions discussed are monosomy, nullisomy, trisomy, and tetrasomy.
Genetic linkage and crossing over
Genetic linkage refers to genes that are located close together on the same chromosome tending to be inherited together. Crossing over can break genetic linkage during meiosis by exchanging DNA between homologous chromosomes, producing recombinant gametes with new combinations of genes. The closer genes are on a chromosome, the less likely they are to be separated by crossing over. Crossing over increases genetic variation and plays an important role in plant and animal breeding.
Chromosome or gene mapping &Linkage analysis
This document discusses chromosome and gene mapping techniques. It describes how gene mapping is used to identify the location of genes and distances between genes on chromosomes. Two main types of maps are discussed - genetic maps based on linkage and physical maps using actual distances in base pairs. Molecular markers are described as polymorphic DNA sequences used to map genes. Methods for genetic mapping like linkage analysis and calculating recombination fractions are explained.
Utilization of polyploids and aneuploids in plants
This document discusses aneuploidy and polyploidy in plants. It defines aneuploidy as a change in chromosome number involving one or a few chromosomes. There are three main types of aneuploidy: monosomics lacking one chromosome, nullisomics lacking one chromosome pair, and polysomics with an extra chromosome or pair. Polyploidy refers to having more than two sets of chromosomes and includes autopolyploidy from genome doubling within a species and allopolyploidy from interspecific hybridization. Both aneuploidy and polyploidy can be used in plant breeding and crop improvement.
Numerical changes in chromosome
This document defines and describes various types of numerical changes in chromosomes, including euploidy, aneuploidy, polyploidy, and autopolyploidy vs allopolyploidy. It provides examples of polyploidy levels from haploidy to hexaploidy. It also discusses aneuploidy conditions including monosomy, nullisomy, trisomy, tetrasomy, pentasomy, hexasomy, and heptasomy. The key differences between autopolyploidy and allopolyploidy are that autopolyploidy involves multiple copies of chromosomes from the same species, while allopolyploidy involves chromosomes from different species.
Chromosomal abeeration
1. Chromosomal abnormalities are categorized as either numerical (change in number) or structural (change in structure).
2. Numerical abnormalities include aneuploidy (extra or missing single chromosomes) and euploidy (change in entire set).
3. Structural abnormalities include deletions, duplications, inversions, and translocations which alter chromosome structure through breaks and fusions.
4. Common aneuploidies in humans include Down syndrome (trisomy 21) and Turner syndrome (monosomy X). Common structural changes and their effects are described.
Presentation on Structure of Chromosomes
Chromosomes are organized structures found in cells that contain DNA and proteins. Each chromosome is made of DNA coiled around histone proteins. Chromosomes are located in the cell nucleus and are passed from parents to offspring. They are named because they can be stained with dyes. In most organisms, chromosomes occur in homologous pairs. The human body contains 23 pairs of chromosomes. Chromosomes condense and can be observed during cell division. They contain duplicated copies called sister chromatids joined at the centromere. Chemically, chromosomes contain DNA, RNA, histone and non-histone proteins, and metal ions. According to the folded fiber model, each chromosome consists of a single DNA molecule wrapped around proteins and folded into a
Presentation on Numerical Chromosomal Aberration
This document summarizes different types of chromosomal aberrations:
- Numerical chromosomal aberrations occur when there are extra or missing chromosomes compared to the normal number, resulting in conditions like aneuploidy. Common aneuploidies include trisomy (extra chromosome), monosomy (missing chromosome), and tetrasomy (four of a chromosome).
- Polyploidy refers to organisms having more than two complete sets of chromosomes. Autopolyploidy involves multiple sets of the same genome, while allopolyploidy involves hybridization between species followed by chromosome doubling. Important natural and artificial allopolyploids include wheat, cotton, and triticale.
Structural Chromosomal aberrations (Change in Structure of Chromosome)
this presentation is about chromosomal aberration especially change in structure of chromosome. different types of structural chromosomal aberrations are also discussed. effects of different aberration are also included.
LINKAGE
GENETICS
CYTOGENETICS
Definition of Linkage, Coupling and Repulsion hypothesis, Linkage group- Drosophila, maize and man, Types of linkage-complete linkage and incomplete linkage, Factors affecting linkage- distance between genes, age, temperature, radiation, sex, chemicals and nutrition, Significance of linkage.
The tendency of two or more genes to stay together (i.e., the co-existence of two or more genes) in the same chromosome during inheritance is known as LINKAGE. The linked genes are present on the same chromosome are said to be SYNTENIC. The linked genes do not show independent assortment.
LINKAGE v/s INDEPENDENT ASSORTMENT
The frequency of linkage or the strength recombination is influenced by several factors (agents).
Allopolyploid
Allopolyploidy occurs when genetically distinct chromosome sets from different species combine, such as through hybridization. This is more common than autopolyploidy in plants, with about 80% of land plants being allopolyploids. Bread wheat is an example of an allohexaploid containing three distinct sets of chromosomes from three different grass species. Allopolyploidy allows for the transfer of genes between related species and the production of new plant varieties.
Incomplete and co dominance
This document discusses three genetic inheritance patterns: dominance, incomplete dominance, and co-dominance. Dominance occurs when one allele is expressed over the other. In incomplete dominance, the heterozygous phenotype is intermediate between the two homozygous phenotypes. Examples include flowers and hair color. Co-dominance occurs when both alleles are fully expressed in the heterozygote, so the phenotype shows traits of both. Examples given are coat color in horses and cattle, and chestnut and white coat colors producing a palomino horse.
Molecular mechanism of recombination, post meiotic segregation
This document discusses different types of recombination mechanisms in living organisms:
1) Homologous recombination occurs between similar DNA sequences like homologous chromosomes and uses common enzymatic pathways.
2) Illegitimate recombination occurs between dissimilar sequences but shares short regions of similarity.
3) Site-specific recombination requires specific enzymes and occurs between short, particular sequences.
4) Meiotic recombination involves pairing and crossover between maternal and paternal chromatids, forming heteroduplex DNA with strands from each parent. Studies in fungi provide insights into post-meiotic segregation of strands from this heteroduplex.
Architecture of Chromosomes
The darkly stained, rod shaped bodies visible under light microscope in a cell during metaphase stage of mitosis are called chromosome.
Presentation on Summary of Autopolyploidy and Allopolyploidy
This document summarizes autopolyploidy and allopolyploidy. Autopolyploidy occurs when an individual has more than two sets of chromosomes all derived from the original species. It can occur due to a failure in meiosis. Advantages include higher heterozygosity and increased vigor, while disadvantages include prolonged cell division and genetic imbalances. Examples include triploid watermelons. Allopolyploidy involves chromosomes from two different species contributing to a polyploid hybrid. Natural allopolyploids originate from chromosome doubling of hybrids between species. Important crop allopolyploids include bread wheat, tobacco, and Brassica species.
Fertilization barriers and chromosomal manipulation
This document discusses fertilization barriers in crop plants that prevent the fusion of male and female gametes. It identifies three main types of barriers - pre-fertilization barriers, post-fertilization barriers, and temporal/spatial isolation of species. Pre-fertilization barriers include failure of pollen germination or insufficient pollen tube growth. Post-fertilization barriers include failure of zygote development or hybrid sterility. The document then provides techniques to overcome each type of barrier, such as reciprocal crosses, mentor pollination, and chemical treatments. It also discusses chromosome manipulation methods that are important for distant hybridization, including haploid production, creating amphidiploids through doubling chromosomes, and inducing
Variation in chromosome structure and number chapter 8
This document summarizes variations in chromosome structure and number that can occur, including deficiencies, duplications, inversions, translocations, and changes in ploidy. It discusses how cytogenetic techniques are used to detect these variations and explains that while many have no effect, some can cause genetic abnormalities or disorders. It provides examples like Down syndrome that result from a specific aneuploidy.
Ploidy presentation
Ploidy, Types: Autoploidy, Aneuploidy, Turner syndrome, Patau syndrome, Cri du chat syndrome, Ploidy experiment in plants, Robertsonian translocation, Down syndrome, Trisomy, Nullisomy, Monosomy, Genetic disorders.
Cytogenetics 1
This document provides an overview of cytogenetics and chromosomal abnormalities. It begins with the history of cytogenetics, including the discovery of human chromosomes in 1882 and establishing the normal human karyotype of 46 chromosomes in 1956. It describes laboratory techniques for culturing and staining chromosomes, including various banding techniques. It discusses clinical cytogenetics and genetic counseling. It provides detailed explanations and examples of different types of numerical and structural chromosomal abnormalities, including aneuploidies, polyploidies, translocations, inversions, deletions and more. It explains the associated phenotypes and inheritance patterns of many common chromosomal syndromes.
Cytoplasmic inheritance
This document discusses Mendelian and non-Mendelian inheritance. It provides examples of cytoplasmic inheritance including the inheritance of chloroplast genes in Mirabilis jalapa, where the phenotype is determined by the genotype of the female parent through cytoplasmic/plastid transmission, not the genes in the nucleus. It also discusses inheritance involving cytoplasmic particles like kappa particles in Paramecium, which are transmitted maternally but whose production is controlled by nuclear genes. The key differences between Mendelian and non-Mendelian inheritance are summarized in a table.
Heterochromatin and euchromatin mains
This document discusses the structures and functions of heterochromatin and euchromatin. Heterochromatin is tightly packed and transcriptionally inactive, found near centromeres and telomeres. Euchromatin is loosely packed and contains most actively transcribed genes. The basic unit of DNA packing is the nucleosome, which involves DNA wound around histone proteins. Heterochromatin and euchromatin differ in their genetic activity, location within chromosomes, and condensation levels during interphase.
Inversions
Inversions involve breaks in a chromosome where a segment rotates 180 degrees and rejoins at the breakpoints. There are two main types of inversions - single and complex. A single inversion involves one inverted segment, which can be paracentric where breaks are in the same arm, or pericentric where breaks are in different arms and may include the centromere. Complex inversions have more than one inverted segment. Inversions can affect fertility through unbalanced gametes, cause recessive mutations, and influence gene expression through position effects. They may also play a role in evolution by allowing populations to diverge.
Aneuploidy
Aneuploidy- meaning, types, causes, forms, examples, importance of aneuploidy in plants, merits and demerits.
PPT on duplication; Production and Uses
1. Duplications occur when an additional segment is present compared to what is normally found in the nucleus. They can be inter-chromosomal, involving another chromosome, or intra-chromosomal, within the same chromosome.
2. Duplications originate through primary structural changes, disturbances during crossing over like unequal crossing over, crossing over within inversions or translocations, and segregation of translocation heterozygotes. They form loops during chromosome pairing and can lead to further duplications through unequal crossing over.
3. Duplications can produce phenotypic effects through position effects when gene expression is altered, lead to more intense effects if the duplicated gene is amplified, and increase enzyme activity if the gene is duplicated.
chromosomal disorder structural and numerical
This document describes different types of chromosomal abnormalities including structural and numerical disorders. Structural disorders include deletions, duplications, translocations, and inversions. Deletions can be terminal or interstitial. Duplications include tandem, reverse tandem, and displaced types. Translocations involve the transfer of genetic material between non-homologous chromosomes and can be simple, isochrome, reciprocal, or shift types. Inversions involve the rotation of a chromosome segment. Numerical disorders involve gains or losses of entire chromosomes and include conditions like Down syndrome, Turner syndrome, Edward syndrome, and Patau syndrome. Examples of each type of abnormality are provided along with their characteristic phenotypes.
linkage and crossing over
This document discusses linkage and crossing over of genes. It explains that genes located on the same chromosome are linked, and the closer they are, the stronger the linkage. Crossing over occurs during meiosis and leads to recombination of genes from homologous chromosomes. Linkage maps can be constructed by observing the frequency of crossing over between linked gene loci. These maps show the linear order and genetic distances between genes on chromosomes.
Complementation test
In this presentation, I'll try to explain the complementation test. This test is important for assessment of functional allelism.
Cytoplasmic inheritance
1. Cytoplasmic inheritance involves the transmission of traits controlled by DNA in organelles like mitochondria and chloroplasts from the maternal parent alone.
2. Early studies showed that traits like shell coiling in snails are determined by the mother's genes, not the individual's own genes.
3. Sonneborn described the inheritance of cytoplasmic particles called "kappa" in Paramecium and their interaction with nuclear genes.
Chromosomal aberrations
Chromosomal aberrations disrupt the normal chromosomal content of cells and are a major cause of genetic conditions in humans. Some examples described are Cri du chat syndrome which is caused by a deletion on chromosome 5 and is characterized by a cat-like cry in infants. Down syndrome is caused by an extra copy of chromosome 21 and includes developmental delays. Edward's syndrome involves an extra chromosome 18 and causes serious health issues. Several other syndromes are described that involve deletions or additions of sex chromosomes and can cause developmental delays, physical abnormalities and fertility issues.
Chromosomal Aberration
This document discusses chromosomal aberrations, including definitions, types, and examples. It covers:
- Karyotyping and identifying chromosomes by size, centromere location, and banding patterns.
- Types of chromosomal abnormalities like aneuploidy, polyploidy, deletions, duplications, inversions, and translocations.
- Specific chromosomal disorders in humans caused by abnormalities, such as Down syndrome, Turner syndrome, and Klinefelter syndrome.
The effects of chromosomal aberrations can range from minor to severe, depending on the type and extent of the genetic material affected. Identification and classification of aberrations provides insight into associated disease states and
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LINKAGE
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Definition of Linkage, Coupling and Repulsion hypothesis, Linkage group- Drosophila, maize and man, Types of linkage-complete linkage and incomplete linkage, Factors affecting linkage- distance between genes, age, temperature, radiation, sex, chemicals and nutrition, Significance of linkage.
The tendency of two or more genes to stay together (i.e., the co-existence of two or more genes) in the same chromosome during inheritance is known as LINKAGE. The linked genes are present on the same chromosome are said to be SYNTENIC. The linked genes do not show independent assortment.
LINKAGE v/s INDEPENDENT ASSORTMENT
The frequency of linkage or the strength recombination is influenced by several factors (agents).
Allopolyploid
Allopolyploidy occurs when genetically distinct chromosome sets from different species combine, such as through hybridization. This is more common than autopolyploidy in plants, with about 80% of land plants being allopolyploids. Bread wheat is an example of an allohexaploid containing three distinct sets of chromosomes from three different grass species. Allopolyploidy allows for the transfer of genes between related species and the production of new plant varieties.
Incomplete and co dominance
This document discusses three genetic inheritance patterns: dominance, incomplete dominance, and co-dominance. Dominance occurs when one allele is expressed over the other. In incomplete dominance, the heterozygous phenotype is intermediate between the two homozygous phenotypes. Examples include flowers and hair color. Co-dominance occurs when both alleles are fully expressed in the heterozygote, so the phenotype shows traits of both. Examples given are coat color in horses and cattle, and chestnut and white coat colors producing a palomino horse.
Molecular mechanism of recombination, post meiotic segregation
This document discusses different types of recombination mechanisms in living organisms:
1) Homologous recombination occurs between similar DNA sequences like homologous chromosomes and uses common enzymatic pathways.
2) Illegitimate recombination occurs between dissimilar sequences but shares short regions of similarity.
3) Site-specific recombination requires specific enzymes and occurs between short, particular sequences.
4) Meiotic recombination involves pairing and crossover between maternal and paternal chromatids, forming heteroduplex DNA with strands from each parent. Studies in fungi provide insights into post-meiotic segregation of strands from this heteroduplex.
Architecture of Chromosomes
The darkly stained, rod shaped bodies visible under light microscope in a cell during metaphase stage of mitosis are called chromosome.
Presentation on Summary of Autopolyploidy and Allopolyploidy
This document summarizes autopolyploidy and allopolyploidy. Autopolyploidy occurs when an individual has more than two sets of chromosomes all derived from the original species. It can occur due to a failure in meiosis. Advantages include higher heterozygosity and increased vigor, while disadvantages include prolonged cell division and genetic imbalances. Examples include triploid watermelons. Allopolyploidy involves chromosomes from two different species contributing to a polyploid hybrid. Natural allopolyploids originate from chromosome doubling of hybrids between species. Important crop allopolyploids include bread wheat, tobacco, and Brassica species.
Fertilization barriers and chromosomal manipulation
This document discusses fertilization barriers in crop plants that prevent the fusion of male and female gametes. It identifies three main types of barriers - pre-fertilization barriers, post-fertilization barriers, and temporal/spatial isolation of species. Pre-fertilization barriers include failure of pollen germination or insufficient pollen tube growth. Post-fertilization barriers include failure of zygote development or hybrid sterility. The document then provides techniques to overcome each type of barrier, such as reciprocal crosses, mentor pollination, and chemical treatments. It also discusses chromosome manipulation methods that are important for distant hybridization, including haploid production, creating amphidiploids through doubling chromosomes, and inducing
Variation in chromosome structure and number chapter 8
This document summarizes variations in chromosome structure and number that can occur, including deficiencies, duplications, inversions, translocations, and changes in ploidy. It discusses how cytogenetic techniques are used to detect these variations and explains that while many have no effect, some can cause genetic abnormalities or disorders. It provides examples like Down syndrome that result from a specific aneuploidy.
Ploidy presentation
Ploidy, Types: Autoploidy, Aneuploidy, Turner syndrome, Patau syndrome, Cri du chat syndrome, Ploidy experiment in plants, Robertsonian translocation, Down syndrome, Trisomy, Nullisomy, Monosomy, Genetic disorders.
Cytogenetics 1
This document provides an overview of cytogenetics and chromosomal abnormalities. It begins with the history of cytogenetics, including the discovery of human chromosomes in 1882 and establishing the normal human karyotype of 46 chromosomes in 1956. It describes laboratory techniques for culturing and staining chromosomes, including various banding techniques. It discusses clinical cytogenetics and genetic counseling. It provides detailed explanations and examples of different types of numerical and structural chromosomal abnormalities, including aneuploidies, polyploidies, translocations, inversions, deletions and more. It explains the associated phenotypes and inheritance patterns of many common chromosomal syndromes.
Cytoplasmic inheritance
This document discusses Mendelian and non-Mendelian inheritance. It provides examples of cytoplasmic inheritance including the inheritance of chloroplast genes in Mirabilis jalapa, where the phenotype is determined by the genotype of the female parent through cytoplasmic/plastid transmission, not the genes in the nucleus. It also discusses inheritance involving cytoplasmic particles like kappa particles in Paramecium, which are transmitted maternally but whose production is controlled by nuclear genes. The key differences between Mendelian and non-Mendelian inheritance are summarized in a table.
Heterochromatin and euchromatin mains
This document discusses the structures and functions of heterochromatin and euchromatin. Heterochromatin is tightly packed and transcriptionally inactive, found near centromeres and telomeres. Euchromatin is loosely packed and contains most actively transcribed genes. The basic unit of DNA packing is the nucleosome, which involves DNA wound around histone proteins. Heterochromatin and euchromatin differ in their genetic activity, location within chromosomes, and condensation levels during interphase.
Inversions
Inversions involve breaks in a chromosome where a segment rotates 180 degrees and rejoins at the breakpoints. There are two main types of inversions - single and complex. A single inversion involves one inverted segment, which can be paracentric where breaks are in the same arm, or pericentric where breaks are in different arms and may include the centromere. Complex inversions have more than one inverted segment. Inversions can affect fertility through unbalanced gametes, cause recessive mutations, and influence gene expression through position effects. They may also play a role in evolution by allowing populations to diverge.
Aneuploidy
Aneuploidy- meaning, types, causes, forms, examples, importance of aneuploidy in plants, merits and demerits.
PPT on duplication; Production and Uses
1. Duplications occur when an additional segment is present compared to what is normally found in the nucleus. They can be inter-chromosomal, involving another chromosome, or intra-chromosomal, within the same chromosome.
2. Duplications originate through primary structural changes, disturbances during crossing over like unequal crossing over, crossing over within inversions or translocations, and segregation of translocation heterozygotes. They form loops during chromosome pairing and can lead to further duplications through unequal crossing over.
3. Duplications can produce phenotypic effects through position effects when gene expression is altered, lead to more intense effects if the duplicated gene is amplified, and increase enzyme activity if the gene is duplicated.
chromosomal disorder structural and numerical
This document describes different types of chromosomal abnormalities including structural and numerical disorders. Structural disorders include deletions, duplications, translocations, and inversions. Deletions can be terminal or interstitial. Duplications include tandem, reverse tandem, and displaced types. Translocations involve the transfer of genetic material between non-homologous chromosomes and can be simple, isochrome, reciprocal, or shift types. Inversions involve the rotation of a chromosome segment. Numerical disorders involve gains or losses of entire chromosomes and include conditions like Down syndrome, Turner syndrome, Edward syndrome, and Patau syndrome. Examples of each type of abnormality are provided along with their characteristic phenotypes.
linkage and crossing over
This document discusses linkage and crossing over of genes. It explains that genes located on the same chromosome are linked, and the closer they are, the stronger the linkage. Crossing over occurs during meiosis and leads to recombination of genes from homologous chromosomes. Linkage maps can be constructed by observing the frequency of crossing over between linked gene loci. These maps show the linear order and genetic distances between genes on chromosomes.
Complementation test
In this presentation, I'll try to explain the complementation test. This test is important for assessment of functional allelism.
Cytoplasmic inheritance
1. Cytoplasmic inheritance involves the transmission of traits controlled by DNA in organelles like mitochondria and chloroplasts from the maternal parent alone.
2. Early studies showed that traits like shell coiling in snails are determined by the mother's genes, not the individual's own genes.
3. Sonneborn described the inheritance of cytoplasmic particles called "kappa" in Paramecium and their interaction with nuclear genes.
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Chromosomal aberrations
Chromosomal aberrations disrupt the normal chromosomal content of cells and are a major cause of genetic conditions in humans. Some examples described are Cri du chat syndrome which is caused by a deletion on chromosome 5 and is characterized by a cat-like cry in infants. Down syndrome is caused by an extra copy of chromosome 21 and includes developmental delays. Edward's syndrome involves an extra chromosome 18 and causes serious health issues. Several other syndromes are described that involve deletions or additions of sex chromosomes and can cause developmental delays, physical abnormalities and fertility issues.
Chromosomal Aberration
This document discusses chromosomal aberrations, including definitions, types, and examples. It covers:
- Karyotyping and identifying chromosomes by size, centromere location, and banding patterns.
- Types of chromosomal abnormalities like aneuploidy, polyploidy, deletions, duplications, inversions, and translocations.
- Specific chromosomal disorders in humans caused by abnormalities, such as Down syndrome, Turner syndrome, and Klinefelter syndrome.
The effects of chromosomal aberrations can range from minor to severe, depending on the type and extent of the genetic material affected. Identification and classification of aberrations provides insight into associated disease states and
Chromosomal aberration
This document discusses chromosomal aberrations, beginning with their definition as any atypical number or structure of one or more chromosomes. It describes the basic terms like karyotyping, chromatid, and chromosome constituents. There are two main types of chromosomal aberrations - numerical involving an abnormal number of chromosomes, and structural involving changes in chromosome structure. Numerical aberrations include aneuploidy, trisomy, monosomy, and polyploidy. Structural aberrations comprise deletion, duplication, fragile sites, inversions, ring chromosomes, and translocations. The document outlines several methods for diagnosing chromosomal aberrations prenatally such as ultrasound, fetal echocardiography, and
chromosomes variation
Chromosome structure variations can arise from breaks that are rejoined randomly. This can result in deletions, duplications, inversions, rings, or translocations of chromosomal segments. Problems include breaking critical genes or improper disjunction during meiosis leading to aneuploidy and non-viable gametes. Specific issues depend on the type of structural variation, such as pericentric inversions causing both duplications and deletions after recombination. Translocations can also lead to aneuploid gametes if alternate versus adjacent segregation occurs during meiosis I.
Chromosomal Aberrations
Chromosomal aberrations can be numerical, involving a change in chromosome number, or structural, involving a change in chromosome structure. Common numerical aberrations include monosomy, such as Turner syndrome caused by X monosomy, and trisomy, such as Down syndrome caused by trisomy 21. Structural aberrations include translocations, where genetic material transfers between chromosomes, and deletions or duplications of parts of chromosomes. These aberrations can have varying effects on development and health depending on the chromosomes and genetic material involved.
Autopolyploidy
This document summarizes autopolyploidy, which is the presence of more than two genomic sets of chromosomes derived from a single species. Key points include:
- Autopolyploids are produced through chromosome doubling within a species, such as through meiotic errors or chemical treatment. This results in organisms with 3, 4, 5, etc. copies of the genome.
- Higher ploidy levels like triploids and tetraploids are often sterile due to challenges in chromosome pairing during meiosis. However, some plants widely used as crops are autopolyploids.
- Identification of autopolyploids is based on observing multivalent chromosome pairing. Random chromosome segregation patterns
Allopolyploid
This document discusses polyploidy, specifically allopolyploidy. It defines polyploidy as having extra sets of chromosomes beyond the diploid amount. The two main types are autopolyploidy, which involves genome doubling within a species, and allopolyploidy, which involves hybridization between two distinct species. Allopolyploidy is much more common in plants than animals, making up about 80% of land plants. The document provides examples of allopolyploid species formation and their uses in plant breeding.
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Presented at the 2023 IEEE/ACM International Conference on
Advances in Social Networks Analysis and Mining.
Collapsing Narratives: Exploring Non-Linearity • a micro report by Rosie Wells
Insight: In a landscape where traditional narrative structures are giving way to fragmented and non-linear forms of storytelling, there lies immense potential for creativity and exploration.
'Collapsing Narratives: Exploring Non-Linearity' is a micro report from Rosie Wells.
Rosie Wells is an Arts & Cultural Strategist uniquely positioned at the intersection of grassroots and mainstream storytelling.
Their work is focused on developing meaningful and lasting connections that can drive social change.
Please download this presentation to enjoy the hyperlinks!
Suzanne Lagerweij - Influence Without Power - Why Empathy is Your Best Friend...
This is a workshop about communication and collaboration. We will experience how we can analyze the reasons for resistance to change (exercise 1) and practice how to improve our conversation style and be more in control and effective in the way we communicate (exercise 2).
This session will use Dave Gray’s Empathy Mapping, Argyris’ Ladder of Inference and The Four Rs from Agile Conversations (Squirrel and Fredrick).
Abstract:
Let’s talk about powerful conversations! We all know how to lead a constructive conversation, right? Then why is it so difficult to have those conversations with people at work, especially those in powerful positions that show resistance to change?
Learning to control and direct conversations takes understanding and practice.
We can combine our innate empathy with our analytical skills to gain a deeper understanding of complex situations at work. Join this session to learn how to prepare for difficult conversations and how to improve our agile conversations in order to be more influential without power. We will use Dave Gray’s Empathy Mapping, Argyris’ Ladder of Inference and The Four Rs from Agile Conversations (Squirrel and Fredrick).
In the session you will experience how preparing and reflecting on your conversation can help you be more influential at work. You will learn how to communicate more effectively with the people needed to achieve positive change. You will leave with a self-revised version of a difficult conversation and a practical model to use when you get back to work.
Come learn more on how to become a real influencer!
Mẫu PPT kế hoạch làm việc sáng tạo cho nửa cuối năm PowerPoint
Mẫu PPT kế hoạch làm việc sáng tạo cho nửa cuối năm PowerPoint
2024-05-30_meetup_devops_aix-marseille.pdf
Slides de notre meetup DevOps AixMarseille du 30 mai 2024 chez SmarTribune
Sujets: platform engineering / terragrunt / test containers
Updated diagnosis. Cause and treatment of hypothyroidism
Types, classification, causes, diagnosis and treatment of hypothyroidism
Media as a Mind Controlling Strategy In Old and Modern Era
This presentation, created by Syed Faiz ul Hassan, explores the profound influence of media on public perception and behavior. It delves into the evolution of media from oral traditions to modern digital and social media platforms. Key topics include the role of media in information propagation, socialization, crisis awareness, globalization, and education. The presentation also examines media influence through agenda setting, propaganda, and manipulative techniques used by advertisers and marketers. Furthermore, it highlights the impact of surveillance enabled by media technologies on personal behavior and preferences. Through this comprehensive overview, the presentation aims to shed light on how media shapes collective consciousness and public opinion.
Competition and Regulation in Professions and Occupations – ROBSON – June 202...
Competition and Regulation in Professions and Occupations – ROBSON – June 202...OECD Directorate for Financial and Enterprise Affairs
This presentation by Professor Alex Robson, Deputy Chair of Australia’s Productivity Commission, was made during the discussion “Competition and Regulation in Professions and Occupations” held at the 77th meeting of the OECD Working Party No. 2 on Competition and Regulation on 10 June 2024. More papers and presentations on the topic can be found at oe.cd/crps.
This presentation was uploaded with the author’s consent.Carrer goals.pptx and their importance in real life
Career goals serve as a roadmap for individuals, guiding them toward achieving long-term professional aspirations and personal fulfillment. Establishing clear career goals enables professionals to focus their efforts on developing specific skills, gaining relevant experience, and making strategic decisions that align with their desired career trajectory. By setting both short-term and long-term objectives, individuals can systematically track their progress, make necessary adjustments, and stay motivated. Short-term goals often include acquiring new qualifications, mastering particular competencies, or securing a specific role, while long-term goals might encompass reaching executive positions, becoming industry experts, or launching entrepreneurial ventures.
Moreover, having well-defined career goals fosters a sense of purpose and direction, enhancing job satisfaction and overall productivity. It encourages continuous learning and adaptation, as professionals remain attuned to industry trends and evolving job market demands. Career goals also facilitate better time management and resource allocation, as individuals prioritize tasks and opportunities that advance their professional growth. In addition, articulating career goals can aid in networking and mentorship, as it allows individuals to communicate their aspirations clearly to potential mentors, colleagues, and employers, thereby opening doors to valuable guidance and support. Ultimately, career goals are integral to personal and professional development, driving individuals toward sustained success and fulfillment in their chosen fields.
XP 2024 presentation: A New Look to Leadership
Presentation slides from XP2024 conference, Bolzano IT. The slides describe a new view to leadership and combines it with anthro-complexity (aka cynefin).
Supercharge your AI - SSP Industry Breakout Session 2024-v2_1.pdf
During the May 2024 SSP Conference in Boston, MA, Margie Hlava gave this presentation during the Industry Breakout Session on May 29, 2024.
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Numerical chromosomal aberrations
- 1. Euploidy & Aneuploidy Atika Noor
- 2. Monoploidy
- 3. Diploidy Two sets of genome.
- 4. Polyploidy More than two sets of genome.
- 7. Nullisomy having 2n-2 condition.
- 8. One chromosome is extra in 21 and 13 chromosomes. Trisomy 21
- 9. Tetrasomy having condition 2n+2.
Editor's Notes
- allopolyploidy
- Aneuploidy. Monosomy.