Unit 1 - Introduction Flashcards
study of biologically inherited traits
Genetics
concerned primarily with understanding biological properties that are transmitted from parent to offspring
Genetics
units of heredity
Genes
biochemical instructions that tell cells how to manufacture proteins
Genes
the complete set of genetic instructions characteristics of an organism, including protein-encoding genes and other DNA sequences
Genome
the entire 3.2 billion base sequence of the genetic material in human cell
Genome
hundreds to thousands of DNA bases that encode a protein or parts of the protein
Single-gene
patterns of single-base variants Single Nucleotide Polymorphism (SNPs) correlated to traits or medical conditions
Genome-wide association studies
levels of mRNAs in specific cells under specific conditions that reflect physiology and reveal abnormalities in function
Gene expression profiling
study the chemical nature of genes and the ways that genes function to affect certain traits
led to the development of methods that can determine the complete DNA sequence of an organism
Genomics
_____________ work is regarded as the beginning of the science of genetics
shows the existence of genes as well as illuminating the rules governing their transmission from generation to generation
Gregor Johann Mendel
Gregor Mendel originally bred ___________ with ___________ to see how pigments were inherited
Albino mice; pigmented mice
Because the ______ of the animals could no longer be contained, and due to the __________________ of monks, Mendel had to let go of the mice
Smell; Celibate Lifestyle
Mendel started working on _______________________ in 1850s
Common Pea Plants
He came up with two main ideas:
Law of Segregation and Law of Independent assortment
What is the third law of Mendel?
Law of Dominance
All biology is now gene-centered
Genetics can help explain why some people are more prone to certain disease compared to others
Help researchers develop new technologies that can be used to treat disease
Importance of Genetics
Knowledge in genetics can even help identify the parents of children and identify the identities of criminals or victims of crimes
Genetics can help healthcare professionals identify genetic conditions found in newborns or even before infants are delivered
Importance of Genetics
numerous drugs and food additives are synthesized by fungi and bacteria that have been genetically manipulated
Biotechnology industry employs molecular genetic techniques to develop and mass-produce substances of commercial value
HEALTHCARE
Risk can be predicted for family members
Predictive (pre-symptomatic) testing may be possible
Single-gene disease
Different populations may have different characteristic disease frequencies
Correction of the underlying genetic abnormality may be possible
Single-gene disease
Direct alteration of genes to treat human diseases
Gene Therapy
Greatest gene therapy successes to date are the treatment of ___________________________________
Severe Combined Immunodeficiency Syndrome (SCID)
SCID is caused by the abnormal gene ___________
IL2RG gene (Interleukin 2 Receptor Subunit Gamma)
___________ complete loss of immune system function
15% - 20%
complete loss of the individual’s immune system due to the absence of the functional enzyme _____________________________
ADA (Adenine deaminase)
was the first person with this rare condition to be treated by gene therapy
Ashanti Desilva
chemical substances produced by microorganism that are genetically
manipulated, with the capacity to inhibit or kill
other microorganisms.
Antibiotics
inhibit growth of microorganisms
Bacteriostatic
kill microorganisms
bactericidal
Bacillus subtilis (antibiotics)
Bacitracin
Bacillus polymyxa (antibiotics)
Polymyxin
Cephalosporium (antibiotics)
Cephalosporins
Micromonospora purpurea (antibiotics)
Gentamicin
Penicillium notatum (antibiotics)
Penicillin
Streptomyces erythraeus (antibiotics)
Erythromycin
Streptomyces fradiae (antibiotics)
Neomycin
Streptomyces nodosus (antibiotics)
Amphotericin B
Streptomyces noursei (antibiotics)
Nystatin
Streptomyces venezuelae (antibiotics)
Chloramphenicol
organisms altered to have new genes or to over or under express their own genes
Genetically Modified Organisms (GMO)
also known as Transmission Genetics
Classical Genetics
basic principles of heredity and how traits are passed from one generation to the next
relation between chromosomes and heredity, the arrangement of genes on chromosomes, and gene mapping
focuses on INDIVIDUAL ORGANISMS
Classical Genetics
Gregor Mendel published the basic rules of inheritance in _____
1886
Reason why Mendel choose Pea Plant (Pisum Sativum) as breeding experiments
easy to cultivate
grow rapidly
produce many offspring
he has as monastery garden
can confer different characteristics to the organism
Alternative forms of genes (alleles)
______________ refers to the combination of alleles that it contain and _______________ is the characteristics it exhibits
Genotype; Phenotype
predicted that adult organisms have two copies of each gene
Gregor Johann Mendel
_________ receive just one of the copies
Gametes
two alleles separate randomly from each other during gamete formation
Law of Segragation
the alleles of different genes sort independently of each other into gametes
Law of Independent Assortment
pictorial representation of related individuals and the phenotype that each individual exhibits
by examining the _______, it is possible to deduce the pattern of inheritance, such as either a dominant or recessive phenotype or
Pedigree
representation of all the chromosomes in an individual
Karyotype
picture of the chromosomes
arranged according to size
Karyogram
Centromeres: Middle (C1 and C3)
Metacentric
Centromeres: Close to one end (C4 and C5)
Submetacentric
Centromeres: Near to one end (C13, C14, C15)
Acrocentric
Centromeres: Not in humans
Telocentric
chemical nature of gene itself: how genetic information is encoded, replicated, and expressed
focus in molecular genetics in the GENE, its STRUCTURE, ORGANIZATION, and FUNCTION
Molecular Genetics
processes that control the expression of genetic material
Gene Regulation
genetic material for all cellular organisms
a double-helical molecule shaped like a twisted ladder
DNA (Deoxyribonucleic Acid)
nitrogen bases of DNA
Adenine, Thymine, Cytosine, Guanine
the sequence of the bases on one strand dictates the sequence on the second strand through a relationship called _____________
complementarity
during _______________, that information in DNA is transcribed to RNA, a different form of nucleic acid, which takes part in protein synthesis
gene expression
it contains the sugar ribose I place of deoxyribose
it has the base Uracil rather than Thymine
It is usually single stranded
RNA (Ribonucleic Acid)
RNA is transcribed from DNA by the enzyme _____________
RNA polymerase
contains the information that will be translated into a protein’s amino acid
Messenger RNA (mRNA)
forms a complex with several proteins to form the ribosome, which is where mRNA nucleotide sequences are translated into amino acid sequences
Ribosomal RNA (rRNA)
Attached to a specific amino acid, and the complementarity between the codon and the anticodon sequences ensures that the correct amino acid enters the ribosome
Transfer RNA (tRNA)
describes the flow of genetic information
state that DNA is transcribes to mRNA, which is then translated into protein.
Central Dogma
genetic composition of groups of individual members of the same species and how that composition changes geographically and with the passage of time
Population Genetics
described evolution as the result of natural selection
Charles Darwin
the marriage of Darwinian theory and population genetics has been termed _________
Neo-Darwinism
Godfrey Hardy and Wilhelm Weinberg
a simple genetic equilibrium occurs in a population if the population is large, has random mating, and has negligible effects of mutation, migration, and natural selection
Hardy-Weinberg Equilibrium
Important feature of a good model organism are that it:
- Has a short generation time to reach sexual maturity
- Produces a large number of offspring
- Can be easily and inexpensively grown in small spaces in laboratory
- Exhibits interesting features
- Has a genome that has been entirely sequenced
most common causative agent of UTI
2nd most common causative agent of neonatal meningitis
Escherichia coli
has a generation time of only ________ and only a small amount of genetic material
the sequence of the E. coli genome was completed in ______
20 minutes; 1997
Types of E. coli
EPEC - Enteropathogenic E. coli
ETEC - Enterotoxigenic E. coli
EHEC - Enterohemorrhagic E. coli
EIEC - Enteroinvasive E. coli
UPEC - Uropathogenic E. coli
it is microscopic and easy to manipulate like bacteria, but it is a eukaryote
found in a haploid state, which means that it contains one copy of each of its 16 different chromosomes
Saccharomyces cerevisiae
the sequencing of S. cerevisiae genome itself was completed in _______
1996
it was not until 2000 that the sequence of the _______________ was completed
the chromosome in the larval salivary gland is very large and stain highly reproducible manner to give a consistent pattern of bands
Drosophila melanogaster
It is transparent, which permitted the observation of internal cell movements and organ development under a microscope
It exists as two genders, male, hermaphrodite which contains both male and female sexual organs
It has a small size and rapid generation time.
Caenorhabditis elegans
C. elegans genome turned out to be approximately half the size of the Drosophila genome. Sequencing of its genome was completed in ______
1998
Its small size and 6-week life cycle make it suitable for genetic experiments in the laboratory. The sequencing of its genome was completed in 2000
Arabidopsis thaliana
The Arabidopsis genome is approximately _____ of the size of the maize genome and ____ of the wheat genome
5% ; 1%
The sequence of the ______________ was completed in 2002, and it appears to have the same relative number of genes as the human genome
Mus musculus
Produce large numbers of progeny
The embryos are transparent, which makes it possible to view the development of internal organs using a microscope.
Danio rerio
zebrafish
Danio rerio
mouse
Mus musculus
fruitfly
Drosophila melanogaster
thale cress
Arabidopsis thaliana
nematode
Caenorhabditis elegans
budding yeast
Saccharomyces cerevisiae
colon bacillus
Escherichia coli
fragment of DNA
Biochemical instructions that tell cells how to manufacture proteins
Genes
Units of heredity, from Latin “____” meaning heir
heres
Nuclear fragment of DNA
Nuclear DNA + mitochondrial DNA
Genome
The complete set of genetic instructions characteristic of an organism, including protein-encoding genes and other DNA sequence
Genome
Scientific study of heredity and hereditary
Classical/transmission, molecular, population
Genetics
Study of inheritance in all of its manifestations, from the distribution of human traits in a family pedigree to the biochemistry of the genetic material in our chromosomes
Genetics
Study of the chemical nature of the genes and ways genes function to affect certain traits
We can compare the genetic make up form one to another
Genomics
Believed that semen was composed of “humors” that are the hereditary traits of an individual
These humors (blood, phlegm, black bile, yellow bile) were then combined to produce the newborn infant
Hippocratic School of Medicine
Attribute many traits to the father and suggest that differences between siblings can be accounted for by effects of from the mother
Hindu Sacred Writings
The Jewish book of religious laws based on oral traditions presents an uncannily accurate understanding of the inheritance of hemophilia (a disorder on coagulation factors 8,9,11,5)
Talmud
first carrier of Hemophilia
Queen Victoria
Gene therapy on pangenesis
Conducted dissections of animals and proposed that the brain was not only the principal site of perception, but also the origin of semen
Alcmaeon
Proposed that specific particles, called gemmules, carry information from various parts of the body to the reproductive organs, from where they are passed to the embryo at the moment of conception
Pangenesis
Pangenesis was then rejected because of _________________ by August Weismann
Germplasm theory
Traits acquired during one’s lifetime become incorporated into one’s hereditary information and are passed on to the offspring
Inheritance of Acquired Characteristics
Rejected the concepts of both pangenesis and the inheritance of acquired characteristics
Believe that both males and females made contributions to the offspring
Aristotle
Inside the egg or sperm existed a tiny miniature adult, homunculus, which development simply enlarged during development
All traits were inherited from only one parent
Preformationism
Theory of Epigenesis by ________
This theory states that substances in the gametes would produce the adult structure, rather than the growth of miniature adult structures that are already present in the gametes.
William Harvey
Major technical discovery that paved way for our current understanding of genetics
Development of Light Microscopy
3 Major Systems of Microscope:
1.Lens System – ocular lens, objective lens, fine & course adjustment knobs
2. Illuminating System – light source, iris diaphragm, condenser, and rheostat
3. Body System – base, body tube, and revolving nosepiece
4x Magnifications
Scanning
10x Magnifications
Low Power Objective
40x Magnifications
High Power Objective
100x Magnifications
Oil Immersion Objective
Coined the term cell to describe the
Structures that he observed in cork under a light microscopy
Robert Hooke
Have true nucleus
Have membrane-bound
organelles
Eukaryotic Cell
No true nucleus
No membrane-bound organelles
Prokaryotic cell
Prokaryotic Cell wall contains
____________________
complex polysaccharide
Eukaryotic cell walls, when
present, are _________________
chemically simple
Prokaryotic cell is divided by _____________
*DNA copies, and then the cell splits into two copies.
binary fission
Eukaryotic cell division involves __________
The chromosomes replicate and an identical set is distributed into each nuclei
Mitosis
substance forming cell walls; determines if the bacteria is gram positive or gram negative
Peptidoglycan
thick peptidoglycan
Gram-positive bacteria
thin peptidoglycan
Gram-negative bacteria
Gram stain - Crystal violet (primary stain)
+ (Purple) ; - (Purple)
Gram stain - Gram’s iodine (mordant)
+ (Purple) ; - (Purple)
Gram stain - Ethyl alcohol (decolorizer)
+ (Purple) ; - (Colorless)
Gram stain - Safranin (secondary stain)
+ (Purple) ; - (Pink)
Produced lenses that generated magnifications of several hundred power
Discovered living organisms (protozoa and bacteria) in rainwater
Father of microbiology
Anton van Leeuwenhoek
Protozoa are eukaryotes because they belong in ____________.
parasites
Classes of parasites
- Protozoa
- Nematoda
- Platyhelminthes
- Arthropoda
Reported that plants reproduce sexually by using pollen from the male sex cells
Nehemiah Grew
carried out numerous crosses and studied pollen under the microscope
Joseph Gottleib Kolreuter
went on to discover the basic principles of heredity
Gregor Mendel
fragment in prometaphase
Core envelope
disappears in prometaphase, and reappears during cytokinesis
Nucleolus
discovered the cell nucleus in 1883
Robert Brown
proposed the concept of cell theory
Mathias Jacob Schleiden and Theodore Schwann
Cell Theory
✓ All life is composed of cells.
✓ Cells arise from pre-existing cells (Rudolf Virchow).
✓ The cell is the fundamental unit of structure and function in living organisms.
published On the Origin of Species
recognized that heredity was fundamental to evolution, and he conducted extensive genetic crosses with pigeons and other organisms
Charles Darwin
On the Origin of species published on ______
1859
This theory holds that the cells in the reproductive organs carry a complete set of genetic information that is passed to gametes
Germ-Plasm Theory
Proposed Germ-Plasm Theory
August Weismann
Austrian monk, performed his classical hybridization experiments with pea plants (because they produce many offspring)
Gregor Johann Mendel
He described the statistical patterns of heritable phenotypes and proposed the theory that factors the germ cells accounted for the underlying basis of inheritance
Gregor Johann Mendel
Described the fusion of the sperm and egg to form the zygote
Oscar Harvey
An Austrian cytologist and professor of anatomy who published the first illustration of human chromosomes in 1882
Also referred to the stainable portion f nucleus as chromatin and first used the term mitosis
Walther Flemming
introduced the word chromosome, from the Greek words for “colored body,” and several prominent scientists of the day began to formulate the idea that determinants of heredity were carried on chromosomes
Heinrich Waldeyer
hypothesized that chromosomes are individual structures with continuity from one generation to the next despite their “disappearance” between cell divisions
Theodor Boveri, Carl Rabl, Edouard van
Beneded
Described the process of meiosis in detail
Theodore Schwann
predicted the occurrence of a reductional stage of cell division
August Weismann
2 types of chromatins
- Heterochromatin
- Euchromatin
inactive/dense chromatin
Heterochromatin
active/loose chromatin
Euchromatin
division of somatic/non sex cells
Mitosis
division of sex cells
Meiosis
proposed in 1902 that genes are located on chromosomes
formally developed a “theory of inheritance”
combined the disciplines of cytology and genetics when he referred to the study of chromosomes as cytogenetics
Walter Sutton
Stated that chromosomes are linear arrays of genes that contained the genetic information required by living organism
theory of inheritance
discovered first genetic mutant of fruit flies and used fruit flies to unravel many details of transmission genetics
Thomas Hunt Morgan
Thomas Hunt Morgan investigated sex determination in mealworms, with ________________, publishing their findings about the X and Y chromosomes in 1905
Maria Steven
developed the algebraic foundations for our understanding of the process of evolution
laid the foundation for population genetics in 1930s
Ronal Fisher, Sewall Wright, and John Haldane
first coined the term F1, F2, homozygote, heterozygote, and allelomorph in 1902
William Bateson
introduced the terms phenotype, genotype, and gene in 1909
Wilhelm Johannsen
formulated the term karyotype to refer to the
ordered arrangement of chromosomes
Levitsky
showed conclusively that DNA was the genetic material
Oswald Avery, Alfred Hershey, and Martha Chase
described the three-dimensional structure of DNA in 1953, ushering the area of molecular genetics
used XC-ray diffraction data collected by Rosalind Franklin and Maurice Wilkins
James Watson and Francis Crick
studied the chromosomes of fibroblast cultures from patients with Down syndrome
Reported that infants with the Cri-du-chat syndrome
(“cat-cry”)
Jerome Lejeune
the trisomy was reported to involve one of the
smallest pairs of chromosomes and would
eventually be referred to as trisomy 21
Down Syndrome
Cri-du-chat syndrome is also known as
5𝑝−
deficiency of one X chromosome; females;
single X; 45 chromosomes
Turner Syndrome
excessive X chromosome; males; XXY; 47 chromosomes
Klinefelter syndrome
excessive Y chromosomes; males; XYY; 47 chromosomes
Jacobs Syndrome
discovered and described restriction endonucleases, the enzymes that opened up the ability to manipulate DNA through recombinant DNA technology
Werner Arber, Hamilton Smith, Daniel Nathans
first to construct a recombinant DNA molecule containing parts of DNA from different species
Paul Berg
Observed a small stained body on the periphery of some interphase nuclei, and his records were detailed enough for him to realize that this was present only in the nuclei of female cats.
Murray Barr
the inactivated X chromosome present in nucleated cells of all normal female mammals but absent in normal males
Sex chromatin / X chromatin / Barr body
Reported the presence of small chromosome in patients with chronic myelogenous leukemia
This was designated Philadelphia chromosome 1, and it demonstrated, for the first time, an association between chromosomes and cancer
Nowell and Hungerford
demonstrated that the “Philadelphia chromosome” was actually the result of a translocation involving chromosome 9 and 22
Janet Rowley
one arm of chromosome 22 is translocated to chromosome 9
Philadelphia Chromosome
MYELOPROFILERATIVE DISORDERS
- Chronic Myelogenous Leukemia (CML)
- Myelofibrosis with Myeloid Metaplasia (MMM)
- Essential Thrombocythemia (ET)
- Polycythemia Vera (PV)
Translocation of C9 to C22 (arm of C22 is translocated to C9)
Stem cell disorder affecting almost all blood cell (granulocytic, monocytic, erythrocytic, and
megakaryocytic)
Chronic Myelogenous Leukemia (CML)
MYELOPROFILERATIVE DISORDERS caused by JAK2 mutation (Janus Kinase)
- Myelofibrosis with Myeloid Metaplasia (MMM)
- Essential Thrombocythemia (ET)
- Polycythemia Vera (PV)
Excessive production of RBCs
Polycythemia Vera (PV)
Developed methods for sequencing DNA in 1977
Walter Gilbert and Frederick Sanger
developed polymerase chain reaction, a technique for quickly amplifying tiny amounts of DNA
Kary Mullis
Gene therapy was used for the first time to treat human genetic disease in the United States, and the Human Genome Project was launched
1990
the first organism to have its complete genome sequenced
Is a gram-negative bacterium also known as Pfeiffer’s bacillus
2nd most common causative agent of otitis media
Haemophilus influenzae
Needed by haemophilus influenzae for survival:
X- Factor (haemin)
V Factor
comprises protoporphyrin IX, also called haemin or other iron-containing porphyrins. These are required for growth because X-dependent strains are unable t convert d-aminolaevulinic acid to protoporphyrin. They are heat stable.
X Factor
comprises nicotinamide adenine dinucleotide (NDA) or nicotinamide adenine dinucleotide phosphate (NADP). They are heat labile.
V Factor
First transgenic cow
Rosie
First coned mammal
Cell + Cell → blastocyst → surrogate parent
Dolly the sheep
one copy of the mutated gene from one parent can cause the mutation
Autosomal dominant
one copy of the mutated gene from BOTH parents can cause the genetic condition
Autosomal recessive
mutations on the chromosome; single copy of the mutated gene causes the genetic condition in both males and females
X-linked dominant
a single mutation in the X chromosomes causes the genetic condition
X-Linked recessive
Y-Linked
carried from father to son ONLY
Genes come in multiple forms called
alleles
Genetic information is carried in
DNA and RNA
Bacterial cells normally possess ______ chromosome; human cells possess _____; pigeon cells possess _____
single; 46; 80
heritable changes in genetic information
affect only the genetic information of a single gene
Mutations
Evolution can be viewed as two-step process: first, genetic variation arises and, second, some genetic variants increase in frequency, whereas other variants decrease
Evolution is a genetic change
