Week 1: Historical Background and Definition Flashcards
What did HERMANN MULLER observe on his 3rd experiment on gene mutations?
physical mutations or physical changes
The alleles or variants an individual carries in a particular gene or genetic location.
Genotype
The individual’s observable traits, such as height, eye color, and blood type.
Phenotype
An allele whose characteristic it is connected to will be expressed in an individual.
Dominant
Scientific name of a Fruit fly, used by Muller
Drosophila melanogaster
An allele whose characteristics it is connected to will be masked in an individual.
Recessive
This possesses an identical allele.
Homozygous
Muller’s basis on determining lethal mutations
characteristics that are not present
on the offspring
This possesses a different allele.
Heterozygous
This is a condition when one chromosome has a copy of the gene, and the other chromosome has that gene deleted or absent.
Hemizygous
What did HERMANN MULLER observe on the 1st and 2nd parts of his experiment on gene mutations?
Lethal Mutations or Lethal Allele Combinations
This is a single copy of autosomal gene is enough to express the trait.
Autosomal Dominant
These two copies of the autosomal gene is required to express the trait.
Autosomal - Recessive
What was Muller’s hypothesis during his experiments?
genetic mutations could be induced using x-rays
This is where each of the two alleles of an autosomal gene contributes to the phenotype.
Autosomal - Codominant
This is seen in sex chromosomes; Only need one copy of the gene for it to be expressed.
X - linked Dominant
Discovered that Toad eggs fertilized with sperm that was exposed to x-ray resulted in embryos with developmental abnormalities
Charles Bardeen in 1907
Muller’s three experiments were conducted on the range of these respective years
1926-1927
MODIFIED TRUE OR FALSE
In 1826 Muller bred flies whose genomes contained particular genetic markers on X-Chromosome, which enabled him to identify mutations.
FALSE, 1926
Muller’s work led him to define genetic mutation as?
A local alteration of a chromosome: a particular
allele was transformed into another one, the
“mutant gene”.
TRUE OR FALSE
In Muller’s experiment, no one’s being born with
Drosophila.
TRUE
In Muller’s 3rd experiment a fly with three X chromosomes is called a?
Super female
MODIFIED TRUE OR FALSE
The ABO Blood Group System has two alleles that affect the expression of antigens on the surface of red blood cells.
FALSE; Three ( A, B, O)
This gene can still be expressed even if there is just one copy.
X - linked Recessive
In Muller’s 3rd experiment a female fly was exposed to radiation, in which there were 3 chromosomes observed. Describe each X chromosomes relationship to the extra Y chromosome
2 X chromosomes are actually fused with an
extra Y chromosome.
In Muller’s 3rd experiment the male fly is
normal with both X and Y chromosome
but exposed to radiation. It is ____
because of some genetic marker.
black
In original Mendelian Genetics, a gene was described as?
A gene was no more than a unit of than a unit of function. Something transmitted in a discrete manner, and the substitution of which has a functional effect in the
phenotype.
In Classical Genetics, a gene is defined as?
a unit of recombination and a unit of mutation.
The two scientists behind the discovery of the structure of DNA in 1953 in the era of Molecular Genetics
Francis Crick and James Watson
How many copies are applicable for males (XY)?
Only 1 copy
How many copies do female need for the trait (XX)?
Two copies
A change in a single nucleotide of DNA
Point Mutation
Francois Jacob and Jacques Mond, through their experimentation on two strains of E.coli developed this model
First Model of Regulation of Gene Expression
A type of point mutation in which one base is incorrectly added during replication and replaces the pair.
Substitution
They introduced the concepts of regulator genes and mRNA. They found out that there is a repressor which is an RNA and it is to inhibit gene expression. Both of them are Noble Peace Prize Winners
Francois Jacob and Jacques Mond
What illness is an example of Substitution in Point Mutation
Sickle Cell Anemia
Scientist that experimented on Bacteriophage T4
Seymour Benzer
A type of point mutation in which one or more extra nucleotides are inserted into the replicationg DNA.
Insertion
o Showed that recombination can occur in
many places within a single gene.
o Mutation events could affect a given gene at
many sites.
o He proposed the existence of mutation
Seymour Benzer
What llness/ blood disorder is a result of Insertion in Point Mutation?
Beta-thalassemia
_____________ proposed that genes are indivisible
traits or units and they are composed of linear
chemical building blocks called ___________
Seymour Benzer, nucleotides
A type of point mutation in which one or more nucleotides are skipped or excised often resulting in a frameshift.
Deletion
What illness is a result of Deletion in Point Mutation?
Cystic Fibrosis
MODIFIED TRUE OR FALSE
Mutations on MULTIPLE nucleotides can alter the
product of the genes.
FALSE, Single
This is usually caused by insertion or deletion causing a change in the reading frame, resulting in a completely different translation from the original.
Frameshift Mutation
A type of chromosomal mutation in which one region of the chromosome is flipped and reinserted.
Inversion
Invention of Recombinant DNA Technologies or Genetic Engineering was from the ____’s onward
1950
A type of chromosomal mutation in which a region is lost resulting in an absence of the gene from that area.
Deletion
When one gene from a specie is introduced to another species.
Recombinant DNA
This is the most impressive discovery in molecular biology since 2000.
Discovery of non-coding RNA
Inversion can be seen in what syndrome?
Opitz-Kevagia Syndrome (X Chromosome)
Deletion can be seen in what syndrome?
Cri-du-chat Syndrome (In Chromosome 5)
These are RNAs that does not code or encode proteins; they are still functional.
Non-coding RNA
The study of inherited traits and their variation
Genetics
A type of chromosomal mutation in which a region is duplicated resulting in an increase in dosage from the genes in that region.
Duplication
Duplication can be seen in what Syndrome?
Pallister Killan Syndrome (In Chromosome 12)
Not just about inheritance or transmission of traits from parent to offspring, but also talks about mutations that may happen to our genes
Genetics
In what chromosome does duplication occur in the Pallister Killan Syndrome?
Chromosome 12
Examples of Non-coding RNA are:
tRNA (transfer RNA), rRNA
(ribosomal RNA), siRNA (small interfering
RNA), and miRNA (micro RNA)
From molecular structures up until the translation into a particular protein or a characteristic
Gene Expression
In what chromosome does deletion occur in the Cri-du-chat Syndrome?
Chromosome 5
The function of Non-coding RNA
They are involved in the regulation of gene expression.
A type of chromosomal mutation in which a region from one chromosome is aberrantly attached to another chromosome.
Translocation
Cytogenetics became a key part of biology around ____ when Swiss botanist Karl Nageli first discovered chromosomes in pollens which he called transitory cytoblasts.
1842
Translocation can be seen in what illness?
Chronic Myelogenous Leukemia
Scientist that coined the term chromosomes.
1888, Wilhelm Waldeyer
In what chromosome does translocation occur in Chronic Myelogenous Leukemia?
Philadelphia Chromosome t(9;22)
The Swiss botanist who first discovered chromosomes in pollens which he called transitory cytoblasts.
Karl Nageli
The two processes of gene expression
Transcription and Translation
These are caused by point mutations.
Single Nucleotide Polymorphisms (SNPs)
This is a single base substituion that are present in the genome.
Single Nucleotide Polymorphisms (SNPs)
Theories about evolution and are based on Gregor Mendel’s experiments (Mendelian Laws)
Fundamentals of Genetic
This is the most common type of genetic variation
Single Nucleotide Polymorphisms (SNPs)
These can act as biological markers, helping scientists locate genes that are associated with the disease.
Single Nucleotide Polymorphisms (SNPs)
is a branch of genetics that studies the structure of DNA within the cell nucleus.
o Study of chromosomes.
o Involve testing samples of tissue, blood, or bone marrow in a laboratory to look for changes in chromosomes, including broken, missing, rearranged, or extra chromosomes
Cytogenetics
This is where purine is substituted for pyrimidine
Transversion
Officially emerged as a discipline in 1972.
Bioethics
This is where point mutation causes a deleterious effect on peptide sequence.
Missense Mutation
TRUE OR FALSE
Bioethics as a discipline started way before the term bioethics was coined as people address issues raised by medical
experimentation.
TRUE
Based on the idea that all species are related to one another and that each species undergo mutations and evolutions over time.
Theories about evolution
This is where substituion of a single base pair leads to appearance of a stop codon.
Non - Sense Mutation
Mutation in DNA that do not have an observable effect on the organism’s phenotype.
Silent Mutation
Evolutions and mutations rely on?
Genetic variations
Dictates the phenotypic charateristics of an organism
Genes
The observable traits on an organism.
Phenotypic characteristics
The Primary Ethical Issue in Genetics and Ethics
Genetic testing as a threat to privacy
Uses of DNA Profiling
Forensic Science and Paternity Testing
MODIFIED TRUE OR FALSE
Malarial DNA found on King Tut is evidence that Genetics is NOT a tool in Illuminating History.
FALSE
Genomic testing is an example of?
Precision Medicine
An example of Diagnostic Medicine
GeneXpert Machine
GMOs, Genome Editing, CRISPR-Cas9
Technology are all examples of?
Genetic Modification
The following are examples of the importance of genetics except:
Establishing Identity
Exome Sequencing
Heredity
Heredity
Study of inherited traits and their variation.
Genetics
Transmission of traits and biological information between generations.
Heredity
Units of heredity, a distinct sequence of nucleotides forming part of a chromosome.
Genes
Complete set of genetic instructions characteristic of an organism.
Genome
Deals with analysis of genomes and comparison of genomes of species to reveal how a species is related to another.
Genomics
is a threadlike structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes.
Chromosome
DNA are wrapped around proteins called
Histones
The basic unit of DNA or RNA.
Nucleotide
Components of a Nucleotide:
1 sugar unit (Deoxyribose or Ribose),
1 phosphate group, and 1 nitrogenous base
Purines (Adenine and Guanine)
and Pyrimidines (Cytosine and Thymine) are examples of?
Nitrogenous Bases
is a chain of biochemical that forms gene.
DNA
Base Pairing is when
Adenine and Thymine, Cytosine and
Guanine (To form the double-helix structure of DNA).
The equivalent of Thymine in RNA
Thymine is replaced with Uracil in RNA.
Either of the two strands
of a replicated
chromosome.
Chromatid
Non-sex chromosomes
numbered to 22 pairs in
humans according to size
Autosome
Sex chromosomes, single
pair.
Allosome
Specific, fixed position on
a chromosome where a
particular gene or genetic
marker is located.
Locus
One of the two or more
versions of a gene.
Allele
A mutated allele that has
lost the ability of the
parent allele, silent gene
Amorph
Why is blood considered a phenotypic characteristic?
Because we can observe it microcopically
If a trait is beneficial to one organism or a group organism then that particular genetic variation may be passed on to the next generation
Process of natural selection
This would help a group of organisms to survive
Evolution
What is the name of Gregor Mendel’s memoir?
Gregor Mendel’s Memoir on Plant Hybridization
How long did Gregor Mendel conduct his experiment and when wat it published?
1857-1865, it was published in 1865
The plant used for plant hybridization experiment of Gregor Mendel
Pea plant
Where did Gregor Mendel observe the pea plants?
Monastery
Offspring would inherit the genes or characteristics from parents and characteristiccs will mix together
Blengding Theory of Inheritance
What 3 situations did Mendel create with the pea plants?
- Produced a True or Pure Line
- Crossed a pure line of tall plants and pure line of short plants that produced offspring of pure tall plants (1st Gen)
- Crossed-bred the 1st generation and it produced 3 tall plants and 1
short plant: homozygous tall, 2 heterozygous
tall, and homozygous short.
The 2 laws formulated by Mendel after his experiment
- Hybridization or Gene Segregation
- Independent Assortment
Recessive trats are inherited but with this law, dominant traits masks or overpowers recessive traits
Law of Dominance
When can we express recessive traits?
When the inherited genese are both recessive (homozygous recessive)
When was genetics first cound as a word for the science of heredity?
1906
Mendelian Genetics fuses with Chromosomal Theory of
1910s: Era of Classical Genetics
Mendelian Genetics fuses with Chromosomal Theory of
1910s: Era of Classical Genetics
The discovery of DNA made this possible
Late 1950s: Era of Molecular Biology
Publication of Mendel’s memoir on plant hybridization
1965
Gregor Mendel published his work in Brunn National History Society
1869
Hugo de Vries published his own book on 1889 and was titled?
Intracellular Pangenesis
What word did Hugo de Vries coin that means hereditary particles in cell?
Pangene
In 1900, what were the names of the botanists that independently rediscovered Mendel’s Law which further solidified it?
- Hugo de Vries (Netherlands)
- Carl Correns (Germany)
- Erich von Tschemak (Austria)
William Bateson explicitly connected Mendel’s laws with general questions of heredity in which book and when?
1902, A Defence of Mendel’s Principles of Heredity
What words did William Bateson introduce?
- Allelomorph
- Heterozygote
- Homozygote
In 1906, William Bateson uses the word “genetics” with reference to Mendel as proposed by his colleague?
Adam Sedgwick
Wiliam Bateson was employed in _________ where he requested to use genetics to describe the science of heredity which was rejected
University of Cambridge (1906)
In 1906, the word genetics was institutionalized after William Batesons proposed it in ________________________ and that it should be based on Mendel’s Law
3rd International conference on Plant Hybridization
When was the report of 3rd International Conference on Genetics?
1907
In 1909, who coined the term genes which refer to Mendelian units of heredity?
Wilhelm Johansenn
Genetics was born as a result of complex intellectual history
Gayon, 2016
Mendel’s experimental work on peas was crucial in the ____________ but, he did not intend to offer general laws of heredity. Supposedly, it was only for the development of hybrids in plants.
Methodological sense
Mendel’s memoir remained unknown until the 1900s where the three botanists (_______________) rediscovered the laws which they did not intend as well (it was only for hybridization)
- Hugo de Vries (Netherlands)
- Carl Correns (Germany)
- Erich von Tschemak (Austria)
The book of Bateson “A Defence of Mendel’s Principles of Heredity (1902) hat two significant contributions
- Mendel’s First Law can also be applied on animals
- introduced technical terms (allelomorph, homozygote, heterozygote)
In 1906, the birth date of genetics would be too late becase?
A significant international community of Mendelians already existed by then
What really occured in 1906 in line with the birth of Genetics?
it is the official creation of genetics as a discipline in the institutional sense
Fusion or combination of Chromosomal Theory and Mendelian Genetics
Classical Genetics
Individual genes are found at specific location on a particular chromosome and the behavior of these chromosomes during meiosis can explain why genees are inherited based on Mendelian Genetics
Chromosomal Theory of Heredity
In 1902, who proposed chromosomes as the bearers of Mendelian Factor
William Sutton and Theodore Boveri
The two proponents of the Chromosomal Theory of Heredity
William Sutton and Theodore Boveri
An American geneticist who observed chromosomes and meiosis in grasshoppers
William Sutton
A German geneticist that used sea urchin to observe chromosomes during meiosis
Theodore Boveri
The Chromosomal Theory of Heredity was not widely accepted by the Mendelians until?
1915
He worked on heredity with fruit flies using both chromosomal theory and mendelian genetics
Thomas Hunt Morgan
Thomas Hunt Morgan published the book ____________ which is considered the omst important book in the entire history of Genetics
The Mechanism of Mendelian Heredity
When did Thomas Hunt Morgan publish the book “The Mechanism of Mendelian Heredity”
1915
Zygote receives only one version of a given gene from each parent
Law of segragation (Purity of gametes)
Deals with observable traits and the inheritance patters that they follow as the pass from parents to offspring
Classical Genetics
