MOL BIO LAB L3 & 4 (Prelim- DNA Mutation) Flashcards
A region of DNA that encodes function
Gene
TRUE OR FALSE: Mutation carry the information that determines your trait, which are features or characteristics that are passed on to you or inherited from your parents
FALSE. Genes carry the information that determines your trait
One or two or more versions of a gene; an individual inherits two of these for each gene, one from each parent
Alleles
Specific physical location of a gene or other DNA sequence on a chromosome
Locus
A difference in DNA sequence among
individuals, groups, or populations
Genetic Polymorphism
Involves one of two or more variants of a
particular DNA sequence
Genetic Polymorphism
This is the most common type of Genetic Polymorphism
Variation at a single base pair
If a difference in DNA sequence among individuals has been shown to just be associated with diseases it will usually be called a
genetic mutation
Changes in the DNA sequence that have been confirmed to be caused by external agents are also generally called
mutations
Polymorphisms arise through?
mutations
A permanent alteration of a nucleotide
sequence of a gene
Mutation
A change in DNA sequence of the Genome of a particular organism
Mutation
The presence of more than one allele at a particular locus in a particular population
Polymorphism
Polymorphism is a variant t that is present in at least _____ to ____of a population
1% to 2%
Mutations can either be?
hereditary or acquired
A physical event so it can happen to just one person so there is a permanent alteration of a nucleotide or sequence of a gene in that one particular person.
But if it’s a population attribute it is?
mutation; polymorphism
DNA variants that can occur due to errors in DNA replication or external factors such as UV and chemical
mutation and polymorphism
A sequence of two or more DNA based pairs that is repeated in such a way that the repeats lie adjacent to each other on the chromosome
Tandem repeats
Generally associated with non-coding DNA
Tandem repeats
This type of DNA Polymorphism is used in DNA fingerprinting procedures
Tandem repeats
Which does not belong to the group:
Example of standard repeats include
- simple sequence repeats (SSRs)
- microsatellites
- Short Tandem Repeats (STRs)
- mini satellites
Short Tandem Repeats (STR’s)
Areas within the genome in which
variation is normal and healthy.
Polymorphism
Are very short stretches of DNA that are repeated back to back at various locations throughout the human genome
Short Tandem Repeats (STRs)
The maximum number of base pairs in Short Tandem Repeats (STRs)
16
For any specific STR, each person will have how many copies?
two copies: 1 inherited from the mother at conception and 1 inherited from the father
These are helpful in forensic and paternity testing because these have a lot of natural variations
Short Tandem Repeats (STRs)
The analysis of why chromosomes STRs and paternity testing or potential paternal relationships is very important
especially in cases in which?
a potential father is not available and sexual assault cases where chromosome STRs are used to identify the male offender
Reported that the male DNA was detectable even in the ratio of?
1:2000
That is one male for every two thousand females by Y-chromosome STR analysis
A type of polymorphism that is present at a particular nucleotide side
Single Nucleotide Polymorphism
This may arise from a substitution of one nucleotide by another at a polymorphic site
Single Nucleotide Polymorphism (SNPs)
The replacement of one purine nucleotide by another purine nucleotide or one pyrimidine by another
Transition
A SNP may also be a single base insertion or deletion variant referred to as?
INDEL
A variation in which a segment of DNA can be found in various copy numbers in the Genome of different individuals
Copy-number Polymorphism
Compared to SNPs, These affect a more significant fraction of the genome and arise more frequently.
Copy-number Polymorphism or CNPs
Significantly contribute to human evolution, genetic diversity, and an increasing number of phenotypic traits
Copy-number Polymorphism or CNPs
Can affect phenotypes by alteration of levels of genes and Gene products both at the level of transcription of genomic DNA to RNA message and presumably a translation of the RNA message to the protein product
Copy-number Polymorphism or CNPs
It can result from DNA copying mistake during cell division, exposure to ionizing radiation, exposure to chemicals called mutagens, or infections by viruses
Mutation
A mutation that occurs in the eggs and sperm and can be passed on to offspring
Germline Mutation
A mutation that occur in body cells and are not passed on
Somatic Mutation
For mutations to affect an organism descendants they must first occur in cells that produce the next generation. In other words there must be?
Germline
Due to a breakage where a piece of a
chromosome is lost
Deletion
A change in the structure of a chromosome or where there is a loss or gain part of a chromosome
Chromosomal Mutations
Chromosome segment breaks up; chromosome segment flip around backwards then segment reattaches
Insertion
Failure of chromosomes to separate during meiosis and causes the gametes to have too many or too few chromosomes
Nondisjunction
When a gene sequence is repeated
Duplication
In addition to translocations, _____
and _________ chromosomes may or may not result in loss of chromosomal material
ring; derivative
Involves 2 chromosomes that are not homologous and part of one chromosome is transferred to another chromosome
Translocation
Insertions without ________ of the
inserted regions and ______ will result in gain or loss of DNA
duplication; deletions
Examples of nondisjunction
- Down syndrome
- Turner syndrome
- Kleinfelter syndrome (XXY chromosome)
Change in the nucleotide sequence of a gene; may only involve a single nucleotide, maybe due to copying errors, chemical viruses
Gene Mutation
“Trisomy 21” (three 21st chromosome)
Down syndrome
Associated with physical growth delays characteristic facial features and mild to moderate intellectual disability
Down syndrome
45, X; A condition that only affects females wherein a girl is born with only one sex chromosome, an X-chromosome
Turner syndrome
Can cause a variety of medical and developmental problems including short height, failure of the ovaries to develop, and heart defects
Turner syndrome
A genetic disorder that affects males, it occurs when a boy is born with one or more extra X chromosome
Kleinfelter syndrome (XXY chromosome)
In ________ syndrome, most ______ have one Y and One X chromosome having extra X chromosomes can cause them to have some physical traits that are unusual such as weaker muscles, greater height, poor coordination or less body hair and sterility
Kleinfelter; Males
A change of a single nucleotide; it includes the deletion, insertion, or substitution of one nucleotide in a gene
Point Mutation
One that does not result in a change of amino acid because of the degeneracy of the genetic code
Silent Mutation
A substitution that changes according coding for one amino acid to a codon coding for a different amino acid
Missense mutation
A mutation that results in an amino acid that is similar in function and properties to the original amino acid
Conservative type of Missense Mutation
Alteration in nucleotide caused the formation of a completely different kind
Non-conservative type of Missense Mutation
A type of non-synonymous codon change in which a stop codon is formed thereby leading to premature termination of a polypeptide chain and formation of a truncated protein
Nonsense mutation
An opposite of the nonsense mutation; a non-synonymous codon change that causes the destruction of a stop codon that resulted in an extended polypeptide product
Read-through Mutation
Inserting or deleting one or more nucleotides. Changes in the “reading frame” like changing the sentence; causes proteins to be built incorrectly
Frameshift Mutation
Exchanges one base for another or a single chemical letter such as switching an A to G
Substitution Mutation
In frameshift mutation, this refers to the addition of one or more nucleotide base pairs into the DNA sequence
Insertion Mutation
Spontaneous isomerization of a nitrogen base to an alternative hydrogen-bonding form, possibly resulting in a mutation
Tautomeric Shifts
Increases the chance of paring during a replication
tautomers
Differ by only a single proton shift in the molecule. The shape changes the bonding structure of the molecule and allows the hydrogen bonding with the non-complementary basis for automatic shape mainly to permanent base pair changes and mutations
Tautomers
