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AQSA ZAKARIA
&
LAILA YOUSAF
RESOURCE PERSON
GENOME MAPPING
&
BIOLOGICAL RESOURCES
DEPARTMENT OF ZOOLOGY
COURSE: BIOINFORMATICS
INSTRUCTOR: SALMAN SAEED
UNIVERSITY COLLEAGE OF MANAGEMENT AND SCIENCES KHANEWAL
• Introduction
• Genome Mapping
• History
• Importance of Genome Mapping
• Methods of Genome Mapping
• Applications in Bioinformatics
• Limitations
• Biological Resources & Types
• Bioinformatics & Biological Resources
• Challenges & Ethical Consideration
• Conclusion
• REFERENCES
CONTENTS
• Genome mapping is a fundamental process that involves deciphering the
genetic makeup of an organisms.
• It aims to identify the location and arrangements of genes and other
functional elements within the entire DNA sequence, known as genome.
• Genome mapping plays a significant role in understanding the genetic
basis of various traits and diseases as well as in evolutionary studies.
• The essence of all genmomic mapping is to place a collection of markers
onto their respective positions on genome.Molecular markers comes in
all form. Genes can be viewed as one special type of genetic marker in
the construction of genomic maps.
INTRODUCTION
GENOME MAPPING
• Genetic mapping is based on the use of genetic techniques to constuct maps showing the
position of genes and other sequence feature of the genome.
A genome is all an orgnisms DNA including a complete set of genes, it contains massive amount
of information, often many millions or even billions of nucleotide in it,
• The science of the genetics has progressed in a very rapid pace but this all began at the 1866 when
Mendel described the inheritance pattern of conceptual heridatery units.
• In 1907 it was suggested that chromosomes were the carrier of the genes. so in 1910 the linkage
concept and in 1913 1st ever linkage map was developed.
• The Human Genome map completed in 1996 locates 5264 markers for gene.
HISTORY
IMPORTANCE OF GENOME MAPPING
Genome mapping holds immense impotance in advancing understanding of bioinformatics and genetics. some
key reasons why genome mapping is crucial are;
1. Understanding Genetics Basis:
Genome mapping helps to identify the specific genes responsible for inherited traits, diseases and genetic
disorders,
2.Evolutionary Studies :
By comparing the genomes of differnet species, scientists can infer evolutionary relationships, track genetic
adaptations and understand the history of life on earth.
3. Conservation Efforts;
Genome mapping aids in conserving theendangered species by revealing their genetic diversity and facilitating
targated conservation strategies.
4. Drug Development
.Genome mapping helps in identify drug targets predits drug response, and develop more effective
pharmecuticals.
5. Mapping of genomes of crops & livestocks allows to develop improved varieties with desirable traits.
Linkage Mapping
Physical Mapping/Optical Mapping
Methods of Genome Mapping
Illusrates the order
of genes on chromosomes
and relative distance between
the genes
shows exact
locations of
genes
Genetic Linkage Mapping
• This method utilizes genetic recombination to determine the relative positions of
genes
• on chromosomes by tracking the frequency of recombination events between genetic
markers,
• These markers can be specific DNA sequence with known locations such as single
Nucleotide Polymorphisms(SNPs)
• It involves tracking the inheritance patterns of genetic arkers in femilies.
• Genetic maps are based
on recombination, the
exchange of DNA
sequences between non
sister chromotids of
meiosis.
Recombination Frequency
• A genetic map is prepared on the basis of
recombination data between carefully
selected genetic markers usually ordered
into suitable crosses.
Recombination Frequency = No. of recombinant progeny × 100
Total no. of progeny
• But in case of Humans, Linkage maps have to prepared using family
pedigree data.
• In such maps, the distance between genes are shown in terms o f map
units or centimorgans (cM)
• The chief problem of linkage mapping is the non availability of a
sufficient number of genetic markers to cover the entire genome .
Physical Mapping
• Physical maps provide a detailed and direct representation of the actual physical distances
• between genes or markers on chromosomes.
• Physical mapping method includes the techniques like;
• Flourescence in situ hybridization
• Somatic Cell Hybridization
• Radiation Hybridization
FISH Technique
• Flrorescenc in situ is a powerful
technique for detecting th e DNA
or RNA sequences in cells, tissues,
and tumors.
• This technique is rapid simple to
implement and offer a great prob
stability.
Types of Probes for FISH
• locus specific
probes(binds to the
particualr region of
chromosomes
• Alphoid Probes(found in
middle of each
chromosoems)
• Whole Chromosome
Probe(binds to different
sequence along the length
of a given chromosome)
Hybridizations
Somatic Cell Hybridization
Development of hybrid plants through the fusion
of somatic protoplast of two different species is
called somatic cell hybridization
It includes 4 steps
• Isolation of protoplast
• Fusion of protoplast of desired species
• Selection of somatic hybrid cells
• Culture of the hybrid cells and regeneration of
the hybrid plants from them.
Radiation
Hbridization
• It is the method of High
resolution mapping.
• In radiation hybrid mapping
uses radiation such as x-rays,
to break the DNA fragments.
• The amount of radiation can
be adjusted to create smaller
or larger fragments.
• This technique is not affected
by increased or decreased
recombination frequency.
Molecular Markers
Molecular marker is the fragement of DNA that is associated within certain location within a genome
used to identify the particular sequence of DNA in a pool of unknown DNA.
RFLP
Restriction fregement length polymorphism is a
genetic marker that can be examined by cleaving the
DNA
into fragements with the help of restriction enzymes.
• It is used for the identification and isolation of any
gene known to be linked with RFLP locus.
• In paternity cases or criminal cases to determine
the source of DNA sample.
• In Diagnosis of genetically inherited diseases.
RAPD= Random Amplification of Polymorphic DNA
• It is a PCR based technology , in 1991
Welsh and Maclelland developed this
technique.
• This procedure detect the nucleotide
sequence polymorphism in DNA.
• It detect the dominant variation in
genome,
• It is used to analyse the genetic
diversity of an individual by random
primers.
Applications of Genome Mapping
in Bioinformatics
Genome Mapping has numerous applications in various fields;
1. Medical Genetics:
Genome Mapping is critical for identifying diseases causing genes, understanding
the genetic basis of disorders, and enabling early diagnosis and treatment.
2.Pharmacogenomics:
Mapping individual genomes can predict drug responses snd tailor medications
to individuals, enhancing treatment efficancy and reducing adverse reactions
3. Forensics:
Genetic markers and DNA profiling aid in criminal investigations and identifiying missing
persons
Limitations of Genome Mapping
• A map generated by genetic technique is rarely sufficient for directing the sequencing
phase of genome project this is for two reasons.
• 1. the resolution of genetic map depends upon the no. of cross over that have been
scored
• 2. the genes that are several tens of kb apart may appear at the same place in the
genetic map
• A genetic map has limited accurracy
Biologicl Resources
Biological Resources
Biological Resources
Biological resources encompass a wide arrray of living organisms and genetic material found in nature
These resources are essential for scientific research , medicine, agriculture, and various other fields.
Importance of Biological Resource
1) Biomedical Research:
Biological resources such as human cell lines, tissure samples and genetic databases are curical for medical
research , drug development and understanding the genetic basis of diseases.
2)Biodiversity and Ecosystem Health;
The diversity of living organisms is fundamental for maintaining ecological balance, ensuring ecoystem services,
and promoting resilience against environmental changes.
3)Bioprospecting:
Scientist and researchers explore biological resources to discover new bioactive compounds, enzymes, and other
valuable biomolecules with potential applications in medicines and industry.
Types OF Biological Resources
1) Genetic Diversity:
Genetic Resources refer to the variety of genes and genetic variations within populations or
species, vital for adaptation and evolution.
2)Microorganisms:
Bacteria, fungi and other microorganisms are valuable resources for producing enzymes,
antibiotics, and other bioactive compounds.
3)Plant Genetic Resources:
Seeds, germplasm and wild relatives of crops are crucial fo crop breeding and maintaining
diversity.
4. Livestock and wild animals populations provide genetic diversity that is vital for improving
livestock breeds and conserving endangered species.
Biological Resources And Bioinformatics
• Bioinformatics relies heavily on biological resources, such as genomic sequences, protein
structures, and other biological data, to perform analyses and generate meaningful insights.
• Conversely, biological resources benefit from bioinformatics tools and databases to make sense
of vast amounts of genetic and molecular information.
• For Example:
• Bioinformatics plays a crucial role in genomic studies , where it assist in genome sequencing,
annotation, and comparative genomics. It also helps in predicting how genetic variations
contribute to phenotypic traits and diseases.
• Overall, the synergy between biological resources and bioinformatics is essential for advancing
research , developing new therapies, enhancing agricultural practices, and ultimately,
contributing to a deeper understanding of the intricate workings of life on Earth.
Challenges and Ethical Considerations
• .Data privacy:Ethical handling of genetic data and ensuring confidently.
• Overexploitation:Sustaniable use of biological resources to avoid depletion.
• Benefit Shairing:Fair and equitable shairing of benifits from genetic resources with indigenous
communities
Conclusion
Genome mapping is a transformative technology that has revolutionized
genetics and impacted various disciplines. its applications in medicine,
agriculture, and conservation offer promising avenues for addressing societal
challenges, it is essential to navigate the ethical considerations responsibly to
harness its benefits for humanity’s well being.
REFERENCE
Sturtevant AH (1965) A History of Genetics. Harper and Row, New York. _
Describes the early gene mapping work carried out by Morgan and his Colleagues
Fincham JRS, Day PR and Radford A(1979).Fungal Genetics, 4th editiion
THANKS

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Genome Mapping And Biological Resources Slides.pptx

  • 1. AQSA ZAKARIA & LAILA YOUSAF RESOURCE PERSON GENOME MAPPING & BIOLOGICAL RESOURCES DEPARTMENT OF ZOOLOGY COURSE: BIOINFORMATICS INSTRUCTOR: SALMAN SAEED UNIVERSITY COLLEAGE OF MANAGEMENT AND SCIENCES KHANEWAL
  • 2. • Introduction • Genome Mapping • History • Importance of Genome Mapping • Methods of Genome Mapping • Applications in Bioinformatics • Limitations • Biological Resources & Types • Bioinformatics & Biological Resources • Challenges & Ethical Consideration • Conclusion • REFERENCES CONTENTS
  • 3. • Genome mapping is a fundamental process that involves deciphering the genetic makeup of an organisms. • It aims to identify the location and arrangements of genes and other functional elements within the entire DNA sequence, known as genome. • Genome mapping plays a significant role in understanding the genetic basis of various traits and diseases as well as in evolutionary studies. • The essence of all genmomic mapping is to place a collection of markers onto their respective positions on genome.Molecular markers comes in all form. Genes can be viewed as one special type of genetic marker in the construction of genomic maps. INTRODUCTION
  • 4. GENOME MAPPING • Genetic mapping is based on the use of genetic techniques to constuct maps showing the position of genes and other sequence feature of the genome. A genome is all an orgnisms DNA including a complete set of genes, it contains massive amount of information, often many millions or even billions of nucleotide in it,
  • 5. • The science of the genetics has progressed in a very rapid pace but this all began at the 1866 when Mendel described the inheritance pattern of conceptual heridatery units. • In 1907 it was suggested that chromosomes were the carrier of the genes. so in 1910 the linkage concept and in 1913 1st ever linkage map was developed. • The Human Genome map completed in 1996 locates 5264 markers for gene. HISTORY
  • 6. IMPORTANCE OF GENOME MAPPING Genome mapping holds immense impotance in advancing understanding of bioinformatics and genetics. some key reasons why genome mapping is crucial are; 1. Understanding Genetics Basis: Genome mapping helps to identify the specific genes responsible for inherited traits, diseases and genetic disorders, 2.Evolutionary Studies : By comparing the genomes of differnet species, scientists can infer evolutionary relationships, track genetic adaptations and understand the history of life on earth. 3. Conservation Efforts; Genome mapping aids in conserving theendangered species by revealing their genetic diversity and facilitating targated conservation strategies. 4. Drug Development .Genome mapping helps in identify drug targets predits drug response, and develop more effective pharmecuticals. 5. Mapping of genomes of crops & livestocks allows to develop improved varieties with desirable traits.
  • 7. Linkage Mapping Physical Mapping/Optical Mapping Methods of Genome Mapping Illusrates the order of genes on chromosomes and relative distance between the genes shows exact locations of genes
  • 8. Genetic Linkage Mapping • This method utilizes genetic recombination to determine the relative positions of genes • on chromosomes by tracking the frequency of recombination events between genetic markers, • These markers can be specific DNA sequence with known locations such as single Nucleotide Polymorphisms(SNPs) • It involves tracking the inheritance patterns of genetic arkers in femilies. • Genetic maps are based on recombination, the exchange of DNA sequences between non sister chromotids of meiosis.
  • 9. Recombination Frequency • A genetic map is prepared on the basis of recombination data between carefully selected genetic markers usually ordered into suitable crosses. Recombination Frequency = No. of recombinant progeny × 100 Total no. of progeny • But in case of Humans, Linkage maps have to prepared using family pedigree data. • In such maps, the distance between genes are shown in terms o f map units or centimorgans (cM) • The chief problem of linkage mapping is the non availability of a sufficient number of genetic markers to cover the entire genome .
  • 10.
  • 11. Physical Mapping • Physical maps provide a detailed and direct representation of the actual physical distances • between genes or markers on chromosomes. • Physical mapping method includes the techniques like; • Flourescence in situ hybridization • Somatic Cell Hybridization • Radiation Hybridization FISH Technique • Flrorescenc in situ is a powerful technique for detecting th e DNA or RNA sequences in cells, tissues, and tumors. • This technique is rapid simple to implement and offer a great prob stability.
  • 12. Types of Probes for FISH • locus specific probes(binds to the particualr region of chromosomes • Alphoid Probes(found in middle of each chromosoems) • Whole Chromosome Probe(binds to different sequence along the length of a given chromosome)
  • 13. Hybridizations Somatic Cell Hybridization Development of hybrid plants through the fusion of somatic protoplast of two different species is called somatic cell hybridization It includes 4 steps • Isolation of protoplast • Fusion of protoplast of desired species • Selection of somatic hybrid cells • Culture of the hybrid cells and regeneration of the hybrid plants from them.
  • 14. Radiation Hbridization • It is the method of High resolution mapping. • In radiation hybrid mapping uses radiation such as x-rays, to break the DNA fragments. • The amount of radiation can be adjusted to create smaller or larger fragments. • This technique is not affected by increased or decreased recombination frequency.
  • 15. Molecular Markers Molecular marker is the fragement of DNA that is associated within certain location within a genome used to identify the particular sequence of DNA in a pool of unknown DNA. RFLP Restriction fregement length polymorphism is a genetic marker that can be examined by cleaving the DNA into fragements with the help of restriction enzymes. • It is used for the identification and isolation of any gene known to be linked with RFLP locus. • In paternity cases or criminal cases to determine the source of DNA sample. • In Diagnosis of genetically inherited diseases.
  • 16. RAPD= Random Amplification of Polymorphic DNA • It is a PCR based technology , in 1991 Welsh and Maclelland developed this technique. • This procedure detect the nucleotide sequence polymorphism in DNA. • It detect the dominant variation in genome, • It is used to analyse the genetic diversity of an individual by random primers.
  • 17. Applications of Genome Mapping in Bioinformatics Genome Mapping has numerous applications in various fields; 1. Medical Genetics: Genome Mapping is critical for identifying diseases causing genes, understanding the genetic basis of disorders, and enabling early diagnosis and treatment. 2.Pharmacogenomics: Mapping individual genomes can predict drug responses snd tailor medications to individuals, enhancing treatment efficancy and reducing adverse reactions 3. Forensics: Genetic markers and DNA profiling aid in criminal investigations and identifiying missing persons
  • 18. Limitations of Genome Mapping • A map generated by genetic technique is rarely sufficient for directing the sequencing phase of genome project this is for two reasons. • 1. the resolution of genetic map depends upon the no. of cross over that have been scored • 2. the genes that are several tens of kb apart may appear at the same place in the genetic map • A genetic map has limited accurracy
  • 20. Biological Resources Biological Resources Biological resources encompass a wide arrray of living organisms and genetic material found in nature These resources are essential for scientific research , medicine, agriculture, and various other fields. Importance of Biological Resource 1) Biomedical Research: Biological resources such as human cell lines, tissure samples and genetic databases are curical for medical research , drug development and understanding the genetic basis of diseases. 2)Biodiversity and Ecosystem Health; The diversity of living organisms is fundamental for maintaining ecological balance, ensuring ecoystem services, and promoting resilience against environmental changes. 3)Bioprospecting: Scientist and researchers explore biological resources to discover new bioactive compounds, enzymes, and other valuable biomolecules with potential applications in medicines and industry.
  • 21. Types OF Biological Resources 1) Genetic Diversity: Genetic Resources refer to the variety of genes and genetic variations within populations or species, vital for adaptation and evolution. 2)Microorganisms: Bacteria, fungi and other microorganisms are valuable resources for producing enzymes, antibiotics, and other bioactive compounds. 3)Plant Genetic Resources: Seeds, germplasm and wild relatives of crops are crucial fo crop breeding and maintaining diversity. 4. Livestock and wild animals populations provide genetic diversity that is vital for improving livestock breeds and conserving endangered species.
  • 22. Biological Resources And Bioinformatics • Bioinformatics relies heavily on biological resources, such as genomic sequences, protein structures, and other biological data, to perform analyses and generate meaningful insights. • Conversely, biological resources benefit from bioinformatics tools and databases to make sense of vast amounts of genetic and molecular information. • For Example: • Bioinformatics plays a crucial role in genomic studies , where it assist in genome sequencing, annotation, and comparative genomics. It also helps in predicting how genetic variations contribute to phenotypic traits and diseases. • Overall, the synergy between biological resources and bioinformatics is essential for advancing research , developing new therapies, enhancing agricultural practices, and ultimately, contributing to a deeper understanding of the intricate workings of life on Earth.
  • 23. Challenges and Ethical Considerations • .Data privacy:Ethical handling of genetic data and ensuring confidently. • Overexploitation:Sustaniable use of biological resources to avoid depletion. • Benefit Shairing:Fair and equitable shairing of benifits from genetic resources with indigenous communities Conclusion Genome mapping is a transformative technology that has revolutionized genetics and impacted various disciplines. its applications in medicine, agriculture, and conservation offer promising avenues for addressing societal challenges, it is essential to navigate the ethical considerations responsibly to harness its benefits for humanity’s well being.
  • 24. REFERENCE Sturtevant AH (1965) A History of Genetics. Harper and Row, New York. _ Describes the early gene mapping work carried out by Morgan and his Colleagues Fincham JRS, Day PR and Radford A(1979).Fungal Genetics, 4th editiion