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CM1-CU2 - Introduction To Cytogenetics

Classical, population, cytogenetic, and molecular genetics are the main branches of genetics. Genetics studies inheritance through genes located on chromosomes. Key events included Mendel's pea plant experiments, Darwin's theory of evolution, discoveries of DNA/RNA structure and function, and development of recombinant DNA technology. Today, model organisms, genomics, proteomics, and bioinformatics further genetics research, though ethical issues surrounding new applications require ongoing discussion.

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Kat Jornadal
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122 views28 pages

CM1-CU2 - Introduction To Cytogenetics

Classical, population, cytogenetic, and molecular genetics are the main branches of genetics. Genetics studies inheritance through genes located on chromosomes. Key events included Mendel's pea plant experiments, Darwin's theory of evolution, discoveries of DNA/RNA structure and function, and development of recombinant DNA technology. Today, model organisms, genomics, proteomics, and bioinformatics further genetics research, though ethical issues surrounding new applications require ongoing discussion.

Uploaded by

Kat Jornadal
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Branches of Genetics

• Classical genetics - refers to the study of the laws of hereditary transmission in living
organisms. It began with Mendel’s study of inheritance in garden peas.
• Population genetics - The study of genes in populations of animals, plants, and
microbes provides information on past migrations, evolutionary relationships and
extents of mixing among different varieties and species, and methods of adaptation to
the environment.
Branches of
Genetics

• Cytogenetics – branch of
genetics that studies the
structure of the DNA within the
cell nucleus. It studies the
number and morphology of the
chromosomes.
• Molecular genetics - the study of
the molecular structure of DNA,
its cellular activities (including its
replication), and its influence in
determining the overall makeup
of an organism.
Early History of Genetics and Theories of
Inheritance

• Aristotle – proposed that “humors” served as bearers of


traits
• William Harvey – proposed the theory of epigenesis
Early History of Genetics and Theories of
Inheritance

• Preformationism – states that the fertilized egg contains a


complete miniature adult called a homunculus
• Cell theory vs Spontaneous Generation
Charles Darwin
• Formulated the theory of Natural Selection
• Natural selection states that individuals with heritable
traits that allow them to adapt to their environment are
better able to survive and reproduce than those with
less adaptive traits.
Gregor Mendel

• Published a paper describing how traits are passed from one


generation to the other, utilizing pea plants as models
• Proposed that traits are passed from parents to offspring in a
predictable manner
• He further concluded that each trait in pea plants is controlled by
a pair of factors (which we now call genes) and that members of
a gene pair separate from each other during gamete formation
(the formation of egg cells and sperm)
Chromosome Theory of Inheritance

• Heredity is dependent on the genes contained in the


structures called chromosomes. The chromosomes were
contributed to the individual by the gametes.
• Diploid number (2n) – the characteristic number of
chromosomes a eukaryote has in most of its cells
• Chromosomes in diploid cells exist in pairs called
homologous chromosomes
Chromosome Theory
of Inheritance
• Chromosomes behave differently during the two forms
of cell division, mitosis and meiosis.
• In mitosis, the chromosomes are copied and distributed
to each daughter cell. Both cells obtain a diploid set of
chromosomes.
• In meiosis, the cells receive only one chromosome from
each chromosome pair, and the resulting number of
chromosome is called the haploid number (n).
Chromosome Theory
of Inheritance
• Finally, the chromosomal theory of inheritance states
that “inherited traits are controlled by genes residing on
chromosomes faithfully transmitted through gametes,
maintaining genetic continuity from generation to
generation.”
Chemical Nature of Genes

• Scientists tried to identify which component of the


chromosomes carries genetic information
• The major chemical component of chromosomes were DNA
and proteins.
Structure of DNA
and RNA

• DNA is a long, ladder-like


macromolecule that twists to form a
double helix.
• Each strand of the molecule is made
up of nucleotides.
• The four types of nucleotides found
in DNA are: A (adenine), G (guanine),
C (cytosine), T (thymine)
• The DNA ladder are exact
complements of each other, so that
the double helix consist of A=T and
G=C base pairs.
Structure of DNA
and RNA

• The RNA is also made up of


nucleotides but contains a
different sugar than DNA.
• It is a single-stranded
molecule that contains uracil
(U) in place of thymine.
Gene Expression: From DNA to
Phenotype
• The genetic information in the DNA is expressed to form a functional gene product,
which in most cases, a protein.
• In eukaryotic cells, the process begin in the nucleus with transcription.
• The mRNA produced then moves to the cytoplasm and migrates to the ribosomes.
• The synthesis of protein under the direction of the mRNA is called translation.
Gene Expression: From DNA to
Phenotype
• Information encoded in mRNA (the genetic code) consists of linear series of
nucleotide triplets (codon).
• Each codon is complementary to the information stored in DNA and specifies the
insertion of a specific amino acid into a protein.
• Protein assemble is accomplished with the aid of tRNAs.
Proteins and Biological Function

• Proteins perform diverse biological functions


• Enzymes, the largest category of proteins, serve as
biological catalysts
• Other types are critical components of cells and organisms
• Some carry essential molecules (hemoglobin), regulate
body processes (protein hormones e.g. insulin), take part in
muscle (actin and myosin) and connective tissue (collagen)
Proteins and Biological Function

• A protein’s shape and chemical behavior are determined by its


linear sequence of amino acids, which in turn is dictated by the
stored information in the DNA of a gene that is transferred to
RNA, which then directs the protein’s synthesis.
• Once a protein is made, its biochemical or structural properties
play a role in producing a phenotype.
• When mutation alters a gene, it may modify or even eliminate
the encoded protein’s usual function and cause an altered
phenotype.
Recombinant DNA Technology

• Researchers discovered restriction enzymes that could be used


to cut any organism’s DNA at specific nucleotide sequences,
therefore producing a reproducible set of DNA fragments.
• Soon researchers discovered ways on how to insert the DNA
fragments into carrier DNA molecules (vectors) to form
recombinant DNA molecules.
• The recombinant DNA will be transferred into bacterial cells to
produce thousand of copies, or clones.
Recombinant DNA Technology
• The cloned DNA fragments can be isolated from the bacterial host cells.
• Such fragments can be used to isolate genes, study their organization and expression,
and to study their nucleotide sequence and evolution.
Biotechnology

• The use of recombinant DNA technology and other


molecular techniques to make products is called
biotechnology.
• The use of recombinant DNA technology to genetically
modify crop plants has revolutionized agriculture.
Biotechnology

• Biotechnology has also changed


the way human proteins for
medical use are produced.
• Biotechnology-derived genetic
testing is now available to
perform prenatal diagnosis of
heritable disorders and to test
parents for their status as
heterozygous carriers of more
than 100 inherited disorders.
Genomics, Proteomics and
Bioinformatics
• There have been efforts to decode each gene in the genome and establish its function
• Genomics – study of genome. It studies the structure, function, and evolution of genes
and genomes
• Proteomics – identifies the et of proteins present in a cell under a given set of
conditions, and studies their functions and interactions
• Bioinformatics – subfield of information technology used to store, retrieve and analyze
the massive amount of data generated by genomics and proteomics
Model Organisms in Genetic Studies

• Principles of inheritance described by Mendel were


universal among plants and animals
• Geneticists gradually came to focus attention on small
number of organisms, including the fruit fly (Drosophila
melanogaster) and the mouse (Mus musculus)
Model Organisms in Genetic Studies

• Reasons for using small number of organism: (1) genetic


mechanisms were the same in most organisms and (2) these
organisms had characteristics that made them especially suitable
for genetic research.
• They were easy to grow, had relatively short life cycles, produced
many offspring, and their genetic analysis was fairly
straightforward.
• They were called model organisms
Genetics, Ethics and Society
• Genetics and its applications in biotechnology are developing much faster than the
social conventions, public policies, and laws required to regulate their use.
• There are many genetics related issues, including concerns about prenatal testing,
genetic discrimination, ownership of genes, access to and safety of gene therapy, and
genetic privacy.

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