Study sets matching "genes mutations"

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Study sets matching "genes mutations"

28 terms
Genes and Mutations
The science or study of heredity, and…
The observed characteristics of that o…
A change in a single nucleotide (base)…
A type of non-point mutation involving…
Genetics
Phenotype
Point mutation
Translocation
The science or study of heredity, and…
Genetics
The observed characteristics of that o…
Phenotype
22 terms
Genes and Mutations
Point mutation
Human genome project
Frameshift mutation
Cloning organisms
Change of a single nucleotide. Includes the deletion, inserti…
Research effort to sequence all of our DNA. 46 chromosomes an…
Inserting or deleting one or more nucleotides. Changes the "r…
A body cell from one organism and an egg cell from another ar…
Point mutation
Change of a single nucleotide. Includes the deletion, inserti…
Human genome project
Research effort to sequence all of our DNA. 46 chromosomes an…
35 terms
Genes and Mutations
The science or study of heredity, and…
The observed characteristics of that o…
A change in a single nucleotide (base)…
A type of non-point mutation involving…
Genetics
Phenotype
Point mutation
Translocation
The science or study of heredity, and…
Genetics
The observed characteristics of that o…
Phenotype
49 terms
Genes and Mutations
Genetics
Phenotype
Point mutation
Translocation
The science or study of heredity, and is concerned with the p…
The observed characteristics of that organism or in the case…
A change in a single nucleotide (base) within a DNA strand or…
A type of non-point mutation involving the movement of a segm…
Genetics
The science or study of heredity, and is concerned with the p…
Phenotype
The observed characteristics of that organism or in the case…
11 terms
Mutations & Genes
Mutation
Gene Mutation
Chromosomal Mutation
Genome Mutation
- Can occur at the gene or chromosomal level... - Due to errors…
Single change in any base pair or nucleotide in a single gene…
- Change effecting the whole or part of a chromosome... - Occur…
Changes in chromosomal number - eg more or less than 46
Mutation
- Can occur at the gene or chromosomal level... - Due to errors…
Gene Mutation
Single change in any base pair or nucleotide in a single gene…
Gene mutations
conservative substitutions
nonconservative substitutions
nonsense substitution
frameshift mutation
change in amino acid sequence that does not drastically affec…
changes in amino acid sequence that change the biochemical na…
mutation causing premature termination by resulting in stop c…
insertion or deletion of other than 3 or a multiple of 3 nucl…
conservative substitutions
change in amino acid sequence that does not drastically affec…
nonconservative substitutions
changes in amino acid sequence that change the biochemical na…
13 terms
Genes and Mutations
Mutation
2 Mutation Categories
Chromosomal Mutation
4 Chromosomal Mutations
A random change in the sequence of nucleotides in DNA
Chromosomal & Gene
Changes in the structure of a chromosome
- Deletion... - Duplication... - Translocation... - inversion
Mutation
A random change in the sequence of nucleotides in DNA
2 Mutation Categories
Chromosomal & Gene
Genes and Mutations
Mutations
Point mutations
Sickle Cell
Mutagen
are changes in the genetic material of a cell or virus... they'r…
are chemical changes in just one base pair of a gene
Val instead of Glu in hemoglobin so capacity for O is reduce
are physical or chemical agents that can cause mutations (UV…
Mutations
are changes in the genetic material of a cell or virus... they'r…
Point mutations
are chemical changes in just one base pair of a gene
Gene Mutations
amino acid
gene
codon
gene mutation
monomer, or building block, of a polypeptide (protein)
section of DNA that codes for a protein and thus determines a…
three-nucleotide base sequence (triplet) on DNA and mRNA that…
mutations that produce changes in a gene as opposed to change…
amino acid
monomer, or building block, of a polypeptide (protein)
gene
section of DNA that codes for a protein and thus determines a…
8 terms
genes and mutations
Crossing over
daughter cell
parent cell
chromosome
Process in which homologous chromosomes exchange portions of…
The product of cell division.
The first cell before it splits into the daughter (the origin…
one of the structures in the nucleus that are made up of DNA…
Crossing over
Process in which homologous chromosomes exchange portions of…
daughter cell
The product of cell division.
11 terms
Mutations in genes
Types of mutations
DNA repair mechanisms
Causes of mutations
Point mutation
Deletions, duplications, inversions, translocation
Mismatch & Excision repairs
Spontaneous errors during replication, transcription, transla…
Chemical change in one or a few base pairs on a single gene
Types of mutations
Deletions, duplications, inversions, translocation
DNA repair mechanisms
Mismatch & Excision repairs
7 terms
gene mutations
BMPR2
A1AT
PiMZ
PiZZ
inactivating mutations of BMPR2... --> leads to proliferation of…
A1-anti-trypsin def. ... --> A1AT accmulates in ER of hepatocyte…
heterozygote for A1AT def.... --> asymptomatic ... - inc. risk of e…
homozygote for A1AT def.... --> significant risk for panacinar e…
BMPR2
inactivating mutations of BMPR2... --> leads to proliferation of…
A1AT
A1-anti-trypsin def. ... --> A1AT accmulates in ER of hepatocyte…
Genes and Mutations
Gene mutation
Point mutations
Insertions
Deletions
Heritable changes in genetic information where DNA makes mist…
Gene mutations involving changes in one or few nucleotides
A base that is put in the DNA sequence
A base that is removed from the DNA sequence
Gene mutation
Heritable changes in genetic information where DNA makes mist…
Point mutations
Gene mutations involving changes in one or few nucleotides
Genes and Mutations
What is a mutation?
What are point mutations?
What can the change of a single nucleo…
What is the condition referred to if a…
changes in the genetic material of a cell or virus
chemical changes in just one base pair of a gene
the production of an abnormal protein
a genetic disorder or a hereditary disease
What is a mutation?
changes in the genetic material of a cell or virus
What are point mutations?
chemical changes in just one base pair of a gene
13 terms
Gene Mutations
Mutation
Lethal mutation
Gene mutation
Carrier
A change in an organism's genetic material
Can cause death before the organism is born
A gene mutation occurs when there are changes in the sequence…
Has the gene but does not display teh trait
Mutation
A change in an organism's genetic material
Lethal mutation
Can cause death before the organism is born
18 terms
Gene Mutations
genome
mutagen
Cells speed up the process of DNA synt…
In humans errors occur 1 in every 1000…
a complete set of DNA
a substance that induces mutations.
polymerase.
repair mechanisms
genome
a complete set of DNA
mutagen
a substance that induces mutations.
28 terms
Gene Mutations
gene mutations
muatagens
DNA Polymerase
point mutation/base substitution
spontaneous changes in DNA (nucleotide) sequence of a gene. C…
environmental factors (physical or chemical) ex. radiation, v…
is supposed to correct any copying errors. Mutations occur wh…
1 base gets replaced with another. (ACCTG--AACTG)
gene mutations
spontaneous changes in DNA (nucleotide) sequence of a gene. C…
muatagens
environmental factors (physical or chemical) ex. radiation, v…
13 terms
Gene Mutations
Somatic Mutation (accept: mutation in…
Germline Mutation (accept: mutation in…
DNA replication
Radiation and chemicals (or carcinogens)
This is the kind of mutation that may affect the person but n…
This is the kind of mutation that affects the person's progeny
This is the cellular process during which mutations can occur
These are two external factors that can cause mutations
Somatic Mutation (accept: mutation in…
This is the kind of mutation that may affect the person but n…
Germline Mutation (accept: mutation in…
This is the kind of mutation that affects the person's progeny
Gene Mutations
Mutations
Somatic mutation
somatic mutation
Germline mutation
changes in nucleotide sequence that can be passed from one ce…
mutations that occur in the somatic cells
Passed on to the daughter cells during mitosis.
mutations that occur in the sex cells that give rise to gametes
Mutations
changes in nucleotide sequence that can be passed from one ce…
Somatic mutation
mutations that occur in the somatic cells
Mutations in Genes
Maternal Effect (Coordinate Genes)
Gap
Pair-Rule
Segment Polarity
Axes; bicoid, nanos
Regional sections; hunchback, Kruppel
Segment Identity; even-skipped, fushi tazaru
Individual polarity of segments; Sonic the Hedgehog
Maternal Effect (Coordinate Genes)
Axes; bicoid, nanos
Gap
Regional sections; hunchback, Kruppel
34 terms
Mutation and Genes
DNA Repair
Mutation
Spontaneous mutation
Gene
Replication errors are repaired by proofreading; if proofread…
The alteration in the base sequence of DNA
mutations that naturally arise from mistakes during replicati…
A sequence of DNA that encodes a protein
DNA Repair
Replication errors are repaired by proofreading; if proofread…
Mutation
The alteration in the base sequence of DNA
mutations of genes
mutations
types of mutations
point mutations
frameshift mutation
a permanent change in DNA sequence
point mutation (substitutions, insertions, deletions), frames…
mistake in DNA replication and random repair; mutation in whi…
ALWAYS has an insertion or deletion; create new sequences of…
mutations
a permanent change in DNA sequence
types of mutations
point mutation (substitutions, insertions, deletions), frames…
34 terms
Genes and mutations
This is a unit of heredity. The term i…
Most genes encode proteins, i.e., code…
In eukaryotic cels, structural genes c…
Porkaryotic genes are often associated…
genes
structural genes
expressed
polycistronic
This is a unit of heredity. The term i…
genes
Most genes encode proteins, i.e., code…
structural genes
15 terms
Genes and Mutations
Define a gene
Describe the critical difference betwe…
Describe the difference between a tran…
Diagram why a frameshift mutation is u…
Genes code for proteins... A gene is most commonly defined as a…
Genotype represents the genetic constitution of an organism—t…
1. Transition: like replaced with like—a purine replaces a pu…
A codon is a set of three nucleotides, a triplet that code fo…
Define a gene
Genes code for proteins... A gene is most commonly defined as a…
Describe the critical difference betwe…
Genotype represents the genetic constitution of an organism—t…
Gene Mutations
Sickle Cell Disease
Cystic Fibrosis
Albinism
XP
...
...
...
Xeroderma Pigmentosum
Sickle Cell Disease
...
Cystic Fibrosis
...
Gene mutations
Mutation
Gene mutation
Substitution
Consequences of substitution
Any change to the quantity or structure of DNA
Any change/ rearrangement of the bases in DNA
One nucleotide is replaced by another
Stop codon (stops the sequence prematurely)... Change in amino a…
Mutation
Any change to the quantity or structure of DNA
Gene mutation
Any change/ rearrangement of the bases in DNA
7 terms
Gene Mutations
Missense
Nonsense
Insertion
Deletion
-Change in one DNA base pair that results in substitution of…
-Change in one DNA base pair but also alters the DNA sequence…
-Changes the number of DNA bases in a gene by adding a piece…
-Changes the number of DNA bases by removing a piece of DNA.…
Missense
-Change in one DNA base pair that results in substitution of…
Nonsense
-Change in one DNA base pair but also alters the DNA sequence…
Gene mutations
Sequence
least damaging
most damaging
Postive Mutation
CAT GCC TGA GCT CTG ATG CCA
addition
deleted
benefits, HIV resistance, plants resistant to bacteria infect…
Sequence
CAT GCC TGA GCT CTG ATG CCA
least damaging
addition
6 terms
Gene Mutations
gene mutation
point mutation
frameshift mutation
substitution
a change in the bases (A, T, C, G)
one amino acid is changed
all amino acids after the mutation are changed
one amino acid is changed (ATCG=ACCG)
gene mutation
a change in the bases (A, T, C, G)
point mutation
one amino acid is changed
Gene Mutations
Mutation
Types of Mutations
Point mutation
Frameshift mutation
Changenin the nucleotide base sequence of a genome
Point or frame shift
One or few base pairs affected
Nucleotide triplets after the mutation displaced
Mutation
Changenin the nucleotide base sequence of a genome
Types of Mutations
Point or frame shift
Gene mutations
Point Mutation
Substitution
Frameshift mutation
Insertion
A mutation affecting only one or very few nucleotides in a ge…
Substitutes one nucleotide for another
A mutation that shifts the entire sequence by one or more nuc…
One or more nucleotides are added into a DNA sequence
Point Mutation
A mutation affecting only one or very few nucleotides in a ge…
Substitution
Substitutes one nucleotide for another
9 terms
gene mutations
missense(nonsynonymous)
nonsense mut.
readthrough mut.
silent mut.
an aminoacid change due to a base substitution
create a stop code due to a base substitution
destroy stop code and add aa.3D structure is chaned by newly…
because of wooble effect,nothing happens.
missense(nonsynonymous)
an aminoacid change due to a base substitution
nonsense mut.
create a stop code due to a base substitution
14 terms
Gene Mutations
Substitution
Insertion
Deletion
Frameshift
one base is changed to another
a base is added to a gene
a base is removed from the gene
Shift the reading frame... Insertions and deletions lead to fram…
Substitution
one base is changed to another
Insertion
a base is added to a gene
Gene Mutations
Point Mutation
Silent Mutation
Frameshift Mutation
Addition insertion frameshift mutation
When one base is substituted for another
When a point mutation does not change the amino acids
When all reading frames(codons) after the mutation are shifte…
When an extra base is put into an amino acid chain
Point Mutation
When one base is substituted for another
Silent Mutation
When a point mutation does not change the amino acids
5 terms
gene mutations
missense mutations
nonsense mutation
insertions & deletions
frameshift mutation
codes for a wrong amino acid
changes an amino acid into a start or stop codon
adds and losses of nucleotides
causes mRNA to be read incorrectly
missense mutations
codes for a wrong amino acid
nonsense mutation
changes an amino acid into a start or stop codon
Gene Mutations
Deletion
Insertion
Frameshift Mutation
Substitution
Loss of one or more nucleotides
Addition of a nucleotide to the DNA sequence
Changes the Amino Acid sequence
A point mutation base is exchanged for another
Deletion
Loss of one or more nucleotides
Insertion
Addition of a nucleotide to the DNA sequence
Gene Mutations
any mistake in DNA is a
mutations
two types of gene mutations
point mutation
mutation
source of evolution, genetic disorders, cancer, etc.... can be…
point mutation... frameshift mutation
-change in a single base pair in DNA... sequence... -also called a…
any mistake in DNA is a
mutation
mutations
source of evolution, genetic disorders, cancer, etc.... can be…
9 terms
Gene mutations
Gene mutation
Deletation
Addition
Substitution
A change in the specific order of the nitrogen bases in the g…
One base is missing
One base is added
One base is replaced by another
Gene mutation
A change in the specific order of the nitrogen bases in the g…
Deletation
One base is missing
gene mutations
missense(nonsynonymous)
nonsense mut.
readthrough mut.
silent mut.
an aminoacid change due to a base substitution
create a stop code due to a base substitution
destroy stop code and add aa.3D structure is chaned by newly…
because of wooble effect,nothing happens.
missense(nonsynonymous)
an aminoacid change due to a base substitution
nonsense mut.
create a stop code due to a base substitution
16 terms
Gene Mutations
Jacob's syndrome
Turner's syndrome
Super female
Klinefelter's syndrome
Non-disjunction ... XYY... Extra chromosome in a male... Usually there…
Non-disjunction ... X... Involving individuals with a single X chro…
Non-disjunction ... XXX... Involving an extra X chromosome in a fem…
Non-disjunction ... XXY... Involving and extra X chromosome in a ma…
Jacob's syndrome
Non-disjunction ... XYY... Extra chromosome in a male... Usually there…
Turner's syndrome
Non-disjunction ... X... Involving individuals with a single X chro…
Gene mutations
Gene mutation
Spontaneous mutation
Induced mutation
Point mutation
any change in the normal structure in DNA with an individual…
those which occur as a result of a failure of replication pro…
caused by exposure to a chemical energy source or viral infec…
occurs when 1 base within gene is replaced by another but the…
Gene mutation
any change in the normal structure in DNA with an individual…
Spontaneous mutation
those which occur as a result of a failure of replication pro…
Gene mutations
Positive effect
Negative effect
Neutral
Mutagens
Benefits the individual ex some plants have developed a resis…
Harms the individual ex sickle cell genes in affected humans…
No effect ex The white kermode bear
Substances or factors that cause mutations
Positive effect
Benefits the individual ex some plants have developed a resis…
Negative effect
Harms the individual ex sickle cell genes in affected humans…
20 terms
gene mutations
point mutation/base substitution
missense mutation
nonsense mutation
silent mutations
change from one base pair to another
results in new triplet code for different amino acid
results in triplet code for stop codon (translation terminate…
new triplet code still codes for same amino acid
point mutation/base substitution
change from one base pair to another
missense mutation
results in new triplet code for different amino acid
Gene Mutations
Mutation
Gene Mutation
Chromosomal Mutation
Mutations can be ________________ or _…
changes in the genetic material
changes in one or a few nucleotides; changes in a single gene
changes in the number or structure of the chromosomes (whole…
inherited; acquired
Mutation
changes in the genetic material
Gene Mutation
changes in one or a few nucleotides; changes in a single gene
16 terms
Gene Mutations
Point Mutation
Base substitution
Missense mutation
silent mutation
mutation where only one nucleotide is changed
substitution of one base pair in DNA for another
results in a different Amino Acid
change in one base pair (usually the 3rd) that results in the…
Point Mutation
mutation where only one nucleotide is changed
Base substitution
substitution of one base pair in DNA for another
7 terms
gene mutations
somatic mutation
germ-line mutation
nucleotide repeat expansion
transposable elements
mutation in somatic cell; cannot be transmitted to next gener…
mutation in germ line; can be transmitted to next generation
copies of a set of nucleotides increase in number with each g…
mobile genetic elements that can disrupt gene function throug…
somatic mutation
mutation in somatic cell; cannot be transmitted to next gener…
germ-line mutation
mutation in germ line; can be transmitted to next generation
Gene mutations
Mutation
Gene mutations
Point mutation
Substitution insertion deletion
A change in the dna sequence that affect genetic information
Results from changes in a single gene
Mutation that affects one nucleotide
Types of point mutations
Mutation
A change in the dna sequence that affect genetic information
Gene mutations
Results from changes in a single gene
12 terms
Gene Mutations
Gene Mutations
There are 2 types of gene mutations ca…
Point Mutation
Frameshift Mutation
Any change to the DNA sequence of a gene... Spontaneous... Occur du…
Point... Frameshift
One base is substituted for another
One or more bases are added or deleted... Caused by the insertio…
Gene Mutations
Any change to the DNA sequence of a gene... Spontaneous... Occur du…
There are 2 types of gene mutations ca…
Point... Frameshift
16 terms
Gene Mutations
Gene mutation
Germ-line; somatic
Environmental mutagens
Point mutations
A permanent change in the sequence of bases in DNA is which o…
______ mutations occur in sex cells while ______ mutations oc…
Ultraviolet radiation and tobacco smoke are two examples of w…
Which of the following involves a substitution in a single DN…
Gene mutation
A permanent change in the sequence of bases in DNA is which o…
Germ-line; somatic
______ mutations occur in sex cells while ______ mutations oc…
208 terms
Gene Mutations
Unna-Thost
Bullous CIE
Ichthyosis bullosa of Siemens
White sponge nevus
K1 (AD)
K1/10
K2e/10/11
K4/13
Unna-Thost
K1 (AD)
Bullous CIE
K1/10
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