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.