CYTOGENETICS: L1 (P)

we gon get this dub

Cytology

study of cells in terms of structure, function, and chemistry

Prokaryotic cell

simpler, smaller than a eukaryotic cell, lacks nucleus and most of the other organelles of eukaryotes

Eukaryotic cell

15 times wider than a typical prokaryote and can be as much as 1000 times greater in volume

Bacteria

example of a prokaryotic cell

Humans, Plants, Animals, Algae

example of a eukaryotic cell

Membrane-bound Compartments

eukaryotic cells contain ________________ in which specific metabolic activities take place

Nucleus

• membrane delineated compartment that houses eukaryotic cells DNA

• makes a eukaryote a true cell

Chromosomes

eukaryotic DNA is organized in one or more linear molecules called ___________

Cytogenetics

• the study of chromosomes.

• includes the study of normal and abnormal chromosomes, and investigation of the causes of chromosomal abnormalities

Euterpe Bazopoulou-Kyrkanidou

stated that genetic concepts have been found in Greek literature

Aristotle

suggested that physical characteristics of organisms are stored in the male semen

Gregor Mendel

father of genetics, an Augustinian Monk who conducted self/cross pollinators on the pea plant pisum sativum at the monastery garden (1856 - 1863)

The 1940s: The Sex Revolution

• Techniques were pioneered by plant geneticists

• Progress was slow due to inability to visualize human chromosomes as individual structures

• Each decade since the late 40’s has resulted in incredible improvements in the quality of data and diagnosis of chromosome abnormalities

Walther Flemming

the beginning of cytogenetics is attributed to him— an austrian cytologist and professor of anatomy who published the first illustrations of human chromosomes in 1882

Walther Flemming

detailed the process of mitosis through chromatin observation and popularized the term mitosis

Heinrich von Waldeyer

in 1888, coined the term chromosome— meaning color (chrome) and body (soma)

Walter Sutton and Theodor Boveri

formally developed “a chromosome theory of inheritance”

Dr. Murray Barr and Dr. Ewart Bertram

discovered sex-chromatin, now known as the Barr body while working at the University of Western Ontario in 1949

The 1950’s: Hypotonic Revolution

• T.C. Hsu discovered the utility of hypotonic solution in 1952

• Tijo and Levan reported the correct chromosome number in humans in vitro— this was confirmed within a year, in vivo by Ford and Hamerton (1956)

The 1960s: The Clinical Revolution

• Whole chromosome syndromes explained phenotypes

• Phenotypes are physical, while genotypes are inherent (genes)

The 1970s: The Banding Revolution

• Q-Banding, Caspersson, 1970

• G-Banding by Trypsin (Seabright, 1971)

• High Resolution Gbanding, Yunis, 1975

The 1980s: The Imaging Revolution

• Several companies sprouted at this time, offering semi automated karyotyping and high quality digital imaging

• Karyotyping - testing of human chromosomes

The 1990s: The Color Revolution

• The return to fluorescence microscopy– whole chromosome painting, SKY, and unique locus probes

• Bone marrow aspirate - Karyotyping

The 2000s: The Genomic Revolution

• BAC and Oligo Arrays

• SNP Arrays

• NextGen Sequencing

Molecular Genetics

Kinds of Modern Genetics:

1. Transmission Genetics - the study of adding traits from one generation to the next

2. _____________ - the study of the chemical structure of genes and how they operate at the molecular level

3. Population Genetics - the study of variation of genes between and within populations

Transmission Genetics

Kinds of Modern Genetics:

1. ____________ - the study of adding traits from one generation to the next

2. Molecular Genetics - the study of the chemical structure of genes and how they operate at the molecular level

3. Population Genetics - the study of variation of genes between and within populations

Population Genetics

Kinds of Modern Genetics:

1. Transmission Genetics - the study of adding traits from one generation to the next

2. Molecular Genetics - the study of the chemical structure of genes and how they operate at the molecular level

3. ____________ - the study of variation of genes between and within populations

Classical Genetics

provided explanations for the transmission of traits

Gregor Mendel

used pea plants in classical genetics as it can self fertilize and cross pollinate

Mendelian Law of Inheritance

works of Mendel and classical genetics is rediscovered by Hugo de Vries, Carl Correms, and Erich von Tsermal using:

Walter Sutton and Theodor Boveri

proposed that genes are carried on chromosomes

William Bateson

coined the word genetics for the first time

Reginald Punnett

created the Punnett square, a table in which all of the possible outcomes for a genetic cross between two individuals with known genotypes are given

Drosophila melanogaster

scientific name of fruit fly

1915

year where the basic principles of mendelian genetics has been applied to a wide variety of organisms, most notably the Drosophila melanogaster

1925

year when Thomas Hunt Morgan and his fellow drosophilists geneticists developed the Mendelian chromosome theory of heredity

Molecular Genetics

• study of agents that pass information from generation to generation

• has yielded the answers to the basic questions left unanswered by classical genetics about:

  • makeup genes

  • mechanism of gene replication 

  • what genes do

  • way that gene differences bring about phenotypic differences

1920

Molecular Genetics Timeline:

• (____) genes were known to exist on chromosomes, chromosomes are composed of both protein and DNA— scientists did not know which of these is responsible for inheritance 

• (1928) Frederick Griffith discovered the phenomenon of transformation: dead bacteria could transfer genetic material to "transform" other still-living bacteria 

• (1944) Oswald Theodore Avery, Colin McLeod, and Maclyn McCarty identified the molecule responsible for transformation as DNA

• Meselson and Stahl (1958) used the equilibrium density gradient centrifugation to conclude that DNA replication is semi- conservative 

• Robert Sinsheimer (1985) pioneered discussions to sequence the human genome

• Fred Sanger (1986) developed Polymerase Chain Reaction (PCR)

• (1996) Dolly the Sheep - first ever cloned animal from an adult somatic cell using the process of nuclear transfer

• (1952) the Hershey & Chase experiment also showed that DNA (rather than protein) is the genetic material of the viruses that infect bacteria, providing further evidence that DNA is the molecule responsible for inheritance

1928

Molecular Genetics Timeline:

• (1920) genes were known to exist on chromosomes, chromosomes are composed of both protein and DNA— scientists did not know which of these is responsible for inheritance 

• (____) Frederick Griffith discovered the phenomenon of transformation: dead bacteria could transfer genetic material to "transform" other still-living bacteria 

• (1944) Oswald Theodore Avery, Colin McLeod, and Maclyn McCarty identified the molecule responsible for transformation as DNA

• Meselson and Stahl (1958) used the equilibrium density gradient centrifugation to conclude that DNA replication is semi- conservative 

• Robert Sinsheimer (1985) pioneered discussions to sequence the human genome

• Fred Sanger (1986) developed Polymerase Chain Reaction (PCR)

• (1996) Dolly the Sheep - first ever cloned animal from an adult somatic cell using the process of nuclear transfer

• (1952) the Hershey & Chase experiment also showed that DNA (rather than protein) is the genetic material of the viruses that infect bacteria, providing further evidence that DNA is the molecule responsible for inheritance

1944

Molecular Genetics Timeline:

• (1920) genes were known to exist on chromosomes, chromosomes are composed of both protein and DNA— scientists did not know which of these is responsible for inheritance 

• (1928) Frederick Griffith discovered the phenomenon of transformation: dead bacteria could transfer genetic material to "transform" other still-living bacteria 

• (____) Oswald Theodore Avery, Colin McLeod, and Maclyn McCarty identified the molecule responsible for transformation as DNA

• Meselson and Stahl (1958) used the equilibrium density gradient centrifugation to conclude that DNA replication is semi- conservative 

• Robert Sinsheimer (1985) pioneered discussions to sequence the human genome

• Fred Sanger (1986) developed Polymerase Chain Reaction (PCR)

• (1996) Dolly the Sheep - first ever cloned animal from an adult somatic cell using the process of nuclear transfer

• (1952) the Hershey & Chase experiment also showed that DNA (rather than protein) is the genetic material of the viruses that infect bacteria, providing further evidence that DNA is the molecule responsible for inheritance

1958

Molecular Genetics Timeline:

• (1920) genes were known to exist on chromosomes, chromosomes are composed of both protein and DNA— scientists did not know which of these is responsible for inheritance 

• (1928) Frederick Griffith discovered the phenomenon of transformation: dead bacteria could transfer genetic material to "transform" other still-living bacteria 

• (1944) Oswald Theodore Avery, Colin McLeod, and Maclyn McCarty identified the molecule responsible for transformation as DNA

• Meselson and Stahl (____) used the equilibrium density gradient centrifugation to conclude that DNA replication is semi- conservative 

• Robert Sinsheimer (1985) pioneered discussions to sequence the human genome

• Fred Sanger (1986) developed Polymerase Chain Reaction (PCR)

• (1996) Dolly the Sheep - first ever cloned animal from an adult somatic cell using the process of nuclear transfer

• (1952) the Hershey & Chase experiment also showed that DNA (rather than protein) is the genetic material of the viruses that infect bacteria, providing further evidence that DNA is the molecule responsible for inheritance

1985

Molecular Genetics Timeline:

• (1920) genes were known to exist on chromosomes, chromosomes are composed of both protein and DNA— scientists did not know which of these is responsible for inheritance 

• (1928) Frederick Griffith discovered the phenomenon of transformation: dead bacteria could transfer genetic material to "transform" other still-living bacteria 

• (1944) Oswald Theodore Avery, Colin McLeod, and Maclyn McCarty identified the molecule responsible for transformation as DNA

• Meselson and Stahl (1958) used the equilibrium density gradient centrifugation to conclude that DNA replication is semi- conservative 

• Robert Sinsheimer (____) pioneered discussions to sequence the human genome

• Fred Sanger (1986) developed Polymerase Chain Reaction (PCR)

• (1996) Dolly the Sheep - first ever cloned animal from an adult somatic cell using the process of nuclear transfer

• (1952) the Hershey & Chase experiment also showed that DNA (rather than protein) is the genetic material of the viruses that infect bacteria, providing further evidence that DNA is the molecule responsible for inheritance

1986

Molecular Genetics Timeline:

• (1920) genes were known to exist on chromosomes, chromosomes are composed of both protein and DNA— scientists did not know which of these is responsible for inheritance 

• (1928) Frederick Griffith discovered the phenomenon of transformation: dead bacteria could transfer genetic material to "transform" other still-living bacteria 

• (1944) Oswald Theodore Avery, Colin McLeod, and Maclyn McCarty identified the molecule responsible for transformation as DNA

• Meselson and Stahl (1958) used the equilibrium density gradient centrifugation to conclude that DNA replication is semi- conservative 

• Robert Sinsheimer (1985) pioneered discussions to sequence the human genome

• Fred Sanger (____) developed Polymerase Chain Reaction (PCR)

• (1996) Dolly the Sheep - first ever cloned animal from an adult somatic cell using the process of nuclear transfer

• (1952) the Hershey & Chase experiment also showed that DNA (rather than protein) is the genetic material of the viruses that infect bacteria, providing further evidence that DNA is the molecule responsible for inheritance

1996

Molecular Genetics Timeline:

• (1920) genes were known to exist on chromosomes, chromosomes are composed of both protein and DNA— scientists did not know which of these is responsible for inheritance 

• (1928) Frederick Griffith discovered the phenomenon of transformation: dead bacteria could transfer genetic material to "transform" other still-living bacteria 

• (1944) Oswald Theodore Avery, Colin McLeod, and Maclyn McCarty identified the molecule responsible for transformation as DNA

• Meselson and Stahl (1958) used the equilibrium density gradient centrifugation to conclude that DNA replication is semi- conservative 

• Robert Sinsheimer (1985) pioneered discussions to sequence the human genome

• Fred Sanger (1986) developed Polymerase Chain Reaction (PCR)

• (____) Dolly the Sheep - first ever cloned animal from an adult somatic cell using the process of nuclear transfer

• (1952) the Hershey & Chase experiment also showed that DNA (rather than protein) is the genetic material of the viruses that infect bacteria, providing further evidence that DNA is the molecule responsible for inheritance

1952

Molecular Genetics Timeline:

• (1920) genes were known to exist on chromosomes, chromosomes are composed of both protein and DNA— scientists did not know which of these is responsible for inheritance 

• (1928) Frederick Griffith discovered the phenomenon of transformation: dead bacteria could transfer genetic material to "transform" other still-living bacteria 

• (1944) Oswald Theodore Avery, Colin McLeod, and Maclyn McCarty identified the molecule responsible for transformation as DNA

• Meselson and Stahl (1958) used the equilibrium density gradient centrifugation to conclude that DNA replication is semi- conservative 

• Robert Sinsheimer (1985) pioneered discussions to sequence the human genome

• Fred Sanger (1986) developed Polymerase Chain Reaction (PCR)

• (1996) Dolly the Sheep - first ever cloned animal from an adult somatic cell using the process of nuclear transfer

• (____) the Hershey & Chase experiment also showed that DNA (rather than protein) is the genetic material of the viruses that infect bacteria, providing further evidence that DNA is the molecule responsible for inheritance

Population Genetics

• Study of allele frequency distribution 

• Concerned with genetic constitution of populations and how this fons

Natural Selection

Process by which heritable traits that make it more likely for an organism to survive and successfully reproduce become more common in a population over successive generation

Genetic Drift

Change in relative frequency iin which a gene variant (allele) occurs in a population due to random sampling and chance

Mutation

A change in the DNA sequence of a cells genome (maybe caused by radiation, viruses, transposons, and mutagenic chemicals, as well as errors that occur during meiosis or DNA replication

Gene Flow

• Exchange of genes between populations which are usually the same species

• Migration and then breeding of organisms, or the exchange of pollen

• Gene transfer between species includes the formation of hybrid organisms and horizontal gene transfer

Genetic Mapping

Methods of Genetic Study:

1. ____________

2. Recombinant DNA Technology

Recombinant DNA Technology

Methods of Genetic Study:

1. Genetic Mapping

2. ____________

Genetic Mapping (tallest to smallest)

• Can offer form evidence that a disease transmitted from parent to a child is linked to one or more genes

• Provides clues about the chromosome contains the gene and precisely where it lies on that chromosome

• Have been used successfully to find the single gene responsible rare inherited disorders

Recombinant DNA Technology

• A form of artificial DNA is created by combining two or more sequences that would not normally occur together through the process of gene splicing

• Is created through the introduction of relevant DNA into an existing organismal DNA, such as plasmids of bacteria to code for or alter different traits for a specific purpose, such as antibiotic resistance.

Practical Application of Genetics

__________________________

1. Establishing identity forensics, history and ancestry

2. Health care– single gene disease (inherited disease)

3. Genetic testing, treatment

4. Agriculture– breeding (biotechnology, transgenic organism)

5. Blood typing

Establishing identity forensics, history and ancestry

Practical Application of Genetics

1. ____________________

2. Health care– single gene disease (inherited disease)

3. Genetic testing, treatment

4. Agriculture– breeding (biotechnology, transgenic organism)

5. Blood typing

Health care– single gene disease (inherited disease)

Practical Application of Genetics

1. Establishing identity forensics, history and ancestry

2. ____________________

3. Genetic testing, treatment

4. Agriculture– breeding (biotechnology, transgenic organism)

5. Blood typing

Genetic testing, treatment

Practical Application of Genetics

1. Establishing identity forensics, history and ancestry

2. Health care– single gene disease (inherited disease)

3. ____________________

4. Agriculture– breeding (biotechnology, transgenic organism)

5. Blood typing

Agriculture– breeding (biotechnology, transgenic organism)

Practical Application of Genetics

1. Establishing identity forensics, history and ancestry

2. Health care– single gene disease (inherited disease)

3. Genetic testing, treatment

4. ____________________

5. Blood typing

Blood typing

Practical Application of Genetics

1. Establishing identity forensics, history and ancestry

2. Health care– single gene disease (inherited disease)

3. Genetic testing, treatment

4. Agriculture– breeding (biotechnology, transgenic organism)

5. ____________________