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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
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…
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…
9 terms
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…
10 terms
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
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.
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
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
15 terms
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…
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.
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…
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
16 terms
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
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
33 terms
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
15 terms
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
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
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…
35 terms
Gene mutations
What are somatic mutations?
What are germ-line mutations?
What affects mutation frequency?
What are hotspots of mutation?
Somatic mutations are ones that occur in any cell of the body…
Mutations that occur in gametes. These mutations are inherite…
Species with larger genomes have, on average, higher mutation…
Genes that have elevated mutation frequencies - reason being…
What are somatic mutations?
Somatic mutations are ones that occur in any cell of the body…
What are germ-line mutations?
Mutations that occur in gametes. These mutations are inherite…
8 terms
gene mutations
introns
exons
point mutation
substitution
dont code for proteins; dont leave the nucleus
code for proteins
change in 1 base
when nucleotide is changed for another; type of point mutation
introns
dont code for proteins; dont leave the nucleus
exons
code for proteins
21 terms
gene mutations
hereditary diffuse gastric cancer
Peutz Jeghers syndrome
Celiac ds
Autoimmune cholangiopathy
CHD 1, assoc LOBULAR breast ca gene (E-codhern)
STK1, LKB1 Auto dominant
HLA DQ2, DQ8
IgG4
hereditary diffuse gastric cancer
CHD 1, assoc LOBULAR breast ca gene (E-codhern)
Peutz Jeghers syndrome
STK1, LKB1 Auto dominant
8 terms
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…
5 terms
Gene mutations
A change in the structure of a DNA mol…
Within an organism, the rate of mutati…
Gene mutations are changes in the...
Gene mutations can take the form of...
gene mutation
varies between genes
base pairs within the genes
duplication, deletion, insertion, inversion or substitution
A change in the structure of a DNA mol…
gene mutation
Within an organism, the rate of mutati…
varies between genes
22 terms
Gene Mutations
What are mutations
Somatic mutation
Germaline mutation
Loss of function mutation
Mutations are changes in the nucleotide sequence of DNA that…
mutation that occurs in somatic (body cells). They are passed…
occur in cells of the germ line- the specialized cells that g…
can result in either the loss of expression of a gene or in t…
What are mutations
Mutations are changes in the nucleotide sequence of DNA that…
Somatic mutation
mutation that occurs in somatic (body cells). They are passed…
20 terms
Gene Mutations
Trisomy
Monosomy
Heredity
Genetics
An abnormal condition where there are three copies, instead o…
A rare chromosomal disorder in which there is a deletion of a…
The passing of genetic factors from parent to offspring (or f…
The study of the patterns of inheritance of specific traits,…
Trisomy
An abnormal condition where there are three copies, instead o…
Monosomy
A rare chromosomal disorder in which there is a deletion of a…
20 terms
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
5 terms
Gene Mutations
Sickle Cell Disease
Cystic Fibrosis
Albinism
XP
...
...
...
Xeroderma Pigmentosum
Sickle Cell Disease
...
Cystic Fibrosis
...
45 terms
Gene Mutations
gene mutation
mutagen
nucleotide
hydrogen bonds
chemical change within the DNA of a cell
changes the nucleotides within DNA molecules... ex: X-rays, ultr…
1. one nitrogen base (ATCG) ... 2. one sugar (deoxyribose)... 3. on…
join the two chains of nucleotides together
gene mutation
chemical change within the DNA of a cell
mutagen
changes the nucleotides within DNA molecules... ex: X-rays, ultr…
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
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
19 terms
Gene Mutations
Somatic Mutations
Germline Mutations
Frameshift
Base-pair Substitution
affects only individual... (not heritable) e.g. colon cancer, br…
transmitted through gametes to next generation e.g. Huntingto…
changes reading frame of... mRNA downstream i.e.... produces differ…
a change from one base pair to another
Somatic Mutations
affects only individual... (not heritable) e.g. colon cancer, br…
Germline Mutations
transmitted through gametes to next generation e.g. Huntingto…
11 terms
gene mutations
DNA sequence... nucleotides... protein
genetic
substituted... 1
sickle cell... oxygen... sickle
mutations are a change in ___ _____ (order of ____) = ____ ch…
mutations increase ____ variation (difference in organisms)
point mutation is where one nucleotide is ____ for another; a…
what is formed when a T is substituted for A resulting in Val…
DNA sequence... nucleotides... protein
mutations are a change in ___ _____ (order of ____) = ____ ch…
genetic
mutations increase ____ variation (difference in organisms)
25 terms
Gene Mutations
BCR-ABL
BCL-2
BRAF
c-kit
Tyrosine kinase ... CML, ALL
Antiapoptotic molecule (inhibits apoptosis) ... Follicular and u…
Serine/threonine kinase ... Melanoma, non-Hodgkin lymphoma
Cytokine receptor ... Gastrointestinal stromal tumor (GIST)
BCR-ABL
Tyrosine kinase ... CML, ALL
BCL-2
Antiapoptotic molecule (inhibits apoptosis) ... Follicular and u…
16 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
25 terms
Gene Mutations
Sickle cell anemia
Sickle cell trait
Myelofibrosis
Polycythemia Vera
Glu --> Val at position 6 of B-chain
Glu --> Lys at position 6 of B-chain
JAK-2
JAK-2
Sickle cell anemia
Glu --> Val at position 6 of B-chain
Sickle cell trait
Glu --> Lys at position 6 of B-chain
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
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
11 terms
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
18 terms
Mutation & Genes
mutation
somatic cells
germ cells
point mutation
any heritable change in the genetic material
cells of the body
reproductive cells
single nucleotide change
mutation
any heritable change in the genetic material
somatic cells
cells of the body
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
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 ___________…
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 ___________…
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
51 terms
gene mutation
mutation
Mutation
Mutation
germline mutation
a change in DNA sequence that is rre in a popultaion and typi…
Range from substitution of single-DNA base to deltion or dupl…
may impair fxn., have no effect or may even be beneficial
change occur during the DNA replication prior to meiosis, res…
mutation
a change in DNA sequence that is rre in a popultaion and typi…
Mutation
Range from substitution of single-DNA base to deltion or dupl…
Gene mutations.
Klinegelter's syndrome
Turner's syndrome
Edward's syndrome
Patau's syndrome
Trisomy 23, xxy. Creates a sterile male
Monosomy, x... Females won't go through puberty
Trisomy 18 due to nondisjunction
Trisomy 13
Klinegelter's syndrome
Trisomy 23, xxy. Creates a sterile male
Turner's syndrome
Monosomy, x... Females won't go through puberty
36 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…
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
10 terms
Gene mutations
Albinism
Point mutation
Chromosomal mutations
Nondisjunction
Is caused by a gene mutation. This is where melanin is not pr…
This is when the mutation involves only one base in a nucleot…
Can result from a variety of problems. Most chromosomal mutat…
Is an error that sometimes occurs during meiosis in which hom…
Albinism
Is caused by a gene mutation. This is where melanin is not pr…
Point mutation
This is when the mutation involves only one base in a nucleot…
10 terms
gene mutations
mutation definition
point mutation - one nucleotide is ___…
ex of point mutation ... _____ _____ - su…
frameshift mutation - the ______ or __…
change in DNA sequence, increase genetic variation
substituted, one
sickle cell, T, A, Valine, hemoglobin, sickle
insertion, deletion, all of the amino acids after the mutation
mutation definition
change in DNA sequence, increase genetic variation
point mutation - one nucleotide is ___…
substituted, one
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