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Genetics
Molecular & classical genetics terminology
178
Biology
Undergraduate 4
09/20/2009

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Term
DNA
Definition
Deoxyribonucleic acid. Structure: sugar (deoxyribose), phosphate, base - ATCG. Double stranded.
Term
RNA
Definition
Ribonucleic acid. Structure: sugar (ribose), phosphate, base - AUCG. Single or double stranded.
Term
H and H1 basic proteins
Definition
Proteins that hold together the circular form of the bacterial DNA double helix.
Term
Topoisomerase I and II
Definition
Enzyme that breaks DNA strand, winding it around, to form super coiled bacterial chromosome. I breaks one strand, II breaks two strands.
Term
Plasmid
Definition
Small, circular DNA that easily passes from one living cell to another. Used for virulence factors, strange carbohydrates, and viral resistance. Useful in the vector process.
Term
Histone proteins
Definition
H1, H2A, H2B, H3, H4: proteins used as a protein core in eukaryotic tertiary DNA structure. H1 holds it in place, the others form an octomer core around which the DNA is wrapped.
Term
Nucleosomes
Definition
Units of DNA and histone proteins in eukaryotic tertiary structure.
Term
BDNA
Definition
About 10 base pairs per turn, turn right/clockwise.
Term
ZDNA
Definition
About 12 bp per turn, turns left/counter-clockwise.
Term
Heterochromatin
Definition
Heavily compacted regions of DNA (heavy stain).
Term
Euchromatin
Definition
Less compacted regions of DNA (lighter stain).
Term
Constitutive euchromatin
Definition
Portions of DNA that are always "turned on," must be on for all cells to survive.
Term
Facultative euchromatin and heterochromatin
Definition
Areas of DNA "turned on" at different times or in different cells.
Term
ARS
Definition
Autonomously replicating sequence. Contains the origin of replication in the yeast genome.
Term
Moderately repetitive DNA
Definition
10^5 repetitions
Term
Highly repetitive DNA
Definition
10^6-10^7 repetitions
Term
Tandem repetitions
Definition
Sequences that are repeated in a row. Eg: ATCGATCGATCGATCG
Term
Interspersed repetitions of DNA
Definition
Repetitions with non-repetitive sequence breaks. Eg: AGTC.....AGCTACGTAGCT....AGCT
Term
SINE's
Definition
Short interspersed sequences of DNA: 100-400 bp.
Term
LINE's
Definition
Long interspersed sequences of DNA: 1000-7000bp.
Term
Semi-conservative model of DNA Replication
Definition
The accepted model of DNA replication, where one strand serves as a template for the replication of another.
Term
Density centrifugation
Definition
Method used to separate strands out in determining the accepted model of DNA replication.
Term
Ori C
Definition
Origin of DNA replication.
Term
Gyrase
Definition
Enzyme in DNA replication that serves to unwind the tension in the two strands as they are pulled apart.
Term
Single stranded binding proteins (SSB's)
Definition
Proteins that serve to stabilize the strand of DNA after it is separated from its sister strand in DNA replication.
Term
Beta clamp
Definition
Used to tether DNA polymerase III to the primer in DNA replication.
Term
Replication bubble
Definition
The area in which DNA replication is occurring, where the strands are separated.
Term
Replication forks
Definition
The exact area of the DNA strand where replication is occurring at any given moment.
Term
Okazaki fragments
Definition
Pieces produced during the process of DNA replication on the lagging strand.
Term
Helicase
Definition
Enzyme responsible for separating strands of DNA in replication.
Term
DNA primase
Definition
Enzyme responsible for synthesizing a short RNA primer in the 5' to 3' direction in order for DNA replication to occur.
Term
DNA polymerase III
Definition
Uses the RNA primer synthesized by DNA primase to begin synthesizing a new strand of DNA in the replication process. Also has an editing function.
Term
DNA polymerase I
Definition
Enzyme that removes the RNA primer and replaces it with DNA during replication. Also has an editing function.
Term
Ligase
Definition
Binds together Okazaki fragments along the lagging strand in DNA replication.
Term
DNA methylase
Definition
Methylates (identifies) the original strand to aid in the editing functions of DNA polymerase I and II.
Term
Telomere
Definition
The end portion of a chromosome in eukaryotes. Protects the chromosome from degrading as a result of nucleases in the cell. Also acts as an age clock for the cell; each time the cell divides, it gets shorter.
Term
Nucleases
Definition
Enzyme within the cell that degrade DNA.
Term
Telomerase
Definition
Protein-RNA complex enzyme responsible for the elongation and replication of DNA at the telomeres of the chromosome.
Term
Reverse transcription
Definition
Process in which DNA is synthesized from and RNA template.
Term
Dideoxyribonucleotides; ddA, ddT, ddC, ddG
Definition
Nucleotides lacking the OH on the 3' end, serve to prevent new nucleotides from being added to the DNA. Used in DNA sequencing.
Term
Electrophoresis
Definition
Process that uses voltage, resulting in items moving through gel based on the separation of charge and size due to pores in the gel.
Term
Beadle and Tatum
Definition
First to show that genes could be involved in the production of enzymes, using Neurospora.
Term
Complementation
Definition
Mutants that have one ability that the other does not.
Term
Transcription
Definition
The process by which DNA is converted into RNA.
Term
Alternative splicing
Definition
Normally introns are removed, but not always, producing completely different proteins in the transcription process.
Term
Genetics
Definition
Study of heredity.
Term
Genome
Definition
Full DNA (or RNA) sequence of an organism or virus
Term
Purines
Definition
Adenine and guanine nucleotide bases.
Term
Pyrimidines
Definition
Cytosine and Uracil (in RNA) or Thymine (in DNA) nucleotide bases.
Term
Genes
Definition
Specific nucleotide sequences that describe the traits passed on from parent to offspring.
Term
Chromosomes
Definition
Structures in which genetic material is organized within the cell.
Term
Alleles
Definition
Alternative versions of genes that account for variation in inherited traits.
Term
Homozygous
Definition
Identical alleles for a trait (eg: YY or yy)
Term
Heterozygous
Definition
Two different alleles for a gene, or gene only present in one type, eg: Yy
Term
Genotype
Definition
Complete genetic makeup of an organism
Term
Phenotype
Definition
All observable properties an organism has. Result of the interaction between the genotype and the environment.
Term
Gene expression
Definition
Process by which a gene produces its product and the product carries out its function
Term
Translation
Definition
Process by which mRNA is converted into proteins.
Term
Mutation
Definition
Heritable alteration in genetic material
Term
Recombination
Definition
Exchange of genetic material between chromosomes
Term
hnRNA
Definition
Form of RNA produced during transcription, before the RNA is mature and sent into the cytoplasm as mRNA
Term
mRNA
Definition
Mature RNA.
Term
AUG
Definition
Start codon on mRNA for translation.
Term
tRNA
Definition
Brings in amino acids during translation.
Term
RNA scanning
Definition
A completely different protein is made during translation as a result of which AUG is used as the start codon.
Term
Somatic cells
Definition
Body cells.
Term
Germ line cells
Definition
Sex cells
Term
Wild-type
Definition
Most prevalent genotype in the population.
Term
Mutant
Definition
Less frequent genotype in the population.
Term
Point mutations
Definition
Mutations that occur by changing one base in a gene.
Term
Chromosome mutations
Definition
Mutations that occur changing the number of chromosomes or rearranging chromosomes.
Term
Transition point mutation
Definition
Type of mutation where the base change in the gene does not effect the amino acid that is produced. Eg: Pyr (C/T) -> Pyr (T/C)
Term
Transversion point mutation
Definition
A type of mutation where the change in nucleotide base does effect the amino acid that is produced.
Term
Missense mutation
Definition
A mutation that changes the amino acid in the polypeptide.
Term
Nonsense mutation
Definition
A type of mutation where the codon change results in a stop codon.
Term
Neutral mutation
Definition
A mutation that results in no change in polypeptide function, but does have a change in amino acid.
Term
Silent mutation
Definition
A mutation that results in the production of the same amino acid.
Term
Frameshift mutations
Definition
Mutations that occur by adding or deleting nucleotides, shifting the reading frame.
Term
Deletion mutation
Definition
A type of frameshift mutation in which one or more nucleotides are deleted.
Term
Suppressor mutations
Definition
A mutation within a mutation that causes the original mutation to not be functional.
Term
Intragenic
Definition
Within a gene.
Term
Intergenic
Definition
Outside of a gene
Term
Spontaneous mutations
Definition
Mutations that occur naturally, accidentally.
Term
Induced mutations
Definition
Mutations caused by chemical mutagens, x-rays, etc.
Term
Hypomorphic mutation
Definition
A mutation that results in a less active protein.
Term
Hypermorphic mutation
Definition
A mutation that results in a more active protein.
Term
Neomorphic mutation
Definition
A mutation that results in the production of a novel protein (a protein the organism has never seen before)
Term
Conditional mutations
Definition
Mutations that are temperature sensitive
Term
Transposons
Definition
Sequences of DNA that can move around to different positions within the genome of the cell. Originally discovered by McClintock.
Term
Inverted Repeat (IR)
Definition
Define the boundary of a transposon.
Term
Retrotransposon
Definition
A transposon with an RNA intermediate
Term
Recombinant DNA
Definition
DNA molecule from one organism recombined with DNA from another organism, used to clone DNA
Term
Restriction enzyme
Definition
Enzyme that cuts DNA, useful in genomics.
Term
Vector
Definition
Something used to transfer DNA sequences from one organism to another.
Term
Three important properties of a vector
Definition
(1) Selectable marker, (2) origin of replication, (3) cloning site (restriction enzyme site)
Term
Blunt ends
Definition
Produced when a restriction enzyme evenly cuts DNA strands. Harder to ligate together.
Term
Staggered ends
Definition
Produced when a restriction enzyme cuts DNA strands unevenly. Useful in genomics because easy to ligate back together.
Term
Lambda phage
Definition
A DNA virus that infects bacterial cells that can be used as a vextor.
Term
Genomic library
Definition
A way of organizing the genome in terms of vectors.
Term
cDNA
Definition
Complementary, or copy, DNA. Produced from mRNA via reverse transcriptase.
Term
Restriction sites
Definition
A specific base pair sequence recognized by restriction endonucleases, where the DNA is cleaved. Usually have birotational symmetry.
Term
YAC
Definition
Yeast artificial chromosome - cloning vectors that enable artificial chromosomes to be made and cloned in yeast cells.
Term
cDNA library
Definition
Collection of clones of DNA copies of mRNA isolated from cells. Useful in terms of determining mRNA being produced at a specific time in the cell
Term
Haplotype
Definition
Half of the genotype. One from mom and one from dad.
Term
SNP
Definition
Single Nucleotide Polymorphism. Occurs about every 1000 base pairs, caused by point mutations. Patterns of these is populations are characteristic of certain diseases or phenotypes
Term
Micro array
Definition
Technique in which single-stranded cDNA or DNA is placed on a gel, and unknown sequences are added to see where they line up.
Term
Homology
Definition
Similar sequences in different organisms. Used to help determine gene function.
Term
Knockouts
Definition
Replacing a gene with a nonsense gene, used to determine gene function
Term
miRNA
Definition
Micro RNA - small RNA molecules can regulate gene function by repressing translation. not knocking out, but slowing down.
Term
Protein array
Definition
Similar to a micro array, but uses an antibody to look for specific proteins.
Term
Homozygous dominant
Definition
PP
Term
Homozygous recessive
Definition
pp
Term
Dominant allele
Definition
Capable of masking the effect of the other (recessive) allele. P.
Term
Recessive allele
Definition
Capable of being masked by the other (dominant) allele. p.
Term
Transposon tagging
Definition
A method of finding a gene, by looking for a transposon that jumps into that gene.
Term
Southern analysis
Definition
The process of running DNA on a gel and probing it with another piece of DNA or cDNA, used to detect a particular sequence of DNA.
Term
Northern analysis
Definition
Process of running RNA on a gel membrane and probing it with cDNA or DNA. Allows you to see differences in size and abundance of mRNA.
Term
Western analysis
Definition
Process in which proteins are placed on a membrane and probed with antibodies.
Term
PIGD
Definition
Pre-implantation genetic diagnosis. Used to determine the genetic makeup of a child after in-vitro fertilization.
Term
Real-time PCR
Definition
mRNA -> cDNA -> dsDNA via PCR. Used to measure how much DNA is being made over time.
Term
Sybr green
Definition
Molecule used in real-time PCR that fluoresces when it binds to double-stranded DNA. The amount of light expelled is proportional to how many DNA molecules are being produced
Term
Protein-protein interaction
Definition
Process used to see how one protein interacts with another
Term
STR
Definition
Short Tandem Repeat - 2-6 bp in length
Term
VNTR
Definition
Variable tandem repeat - 7-20bp in length
Term
Biotech
Definition
Take an animal and produce a human protein.
Term
Test cross
Definition
In Mendelian genetics, crossing an individual with a homozygous recessive individual
Term
Null alleles
Definition
Alleles with no function
Term
Linked genes
Definition
Genes along the same chromosome that are dependent on each other
Term
Locus
Definition
Placement of a gene on a chromosome
Term
Bioinformatics
Definition
A field involving biology, computer science, math, and stats to analyze biological sequence data, genome content, and arrangement, and to predict the function and structure of macromolecules
Term
Self-fertilization (selfing)
Definition
The plant fertilizes itself (has both male and female parts)
Term
True-breeding
Definition
Trait under investigation remains unchanged from parent to offspring for many generations.
Term
Monohybrid cross
Definition
In Mendelian genetics, a single trait cross (Pp)
Term
Dihybrid cross
Definition
In Mendelian genetics, crossing two traits (PpSS)
Term
Diploid (2N)
Definition
Two copies of each type of chromosome within the nuclei.
Term
Zygote
Definition
Two haploid (1N) gametes produce this diploid (2N) cell.
Term
Homologous chromosomes
Definition
Members of a chromosome pair that contain the same genes and pair during meiosis.
Term
Sex chromosomes (X and Y)
Definition
Chromosomes that are represented differently in the two sexes.
Term
Autosomes
Definition
Non sex chromosomes
Term
Centromere
Definition
Constriction along the length of the chromosome, important in cell division
Term
Mitosis
Definition
The process during which one somatic cell (2N) divides, producing two 2N cells.
Term
S Phase
Definition
Synthesis - DNA replicates during interphase.
Term
Nondisjunction
Definition
When one or more chromosomes fail to separate during mitosis or meiosis. Eg: 2N -> 2N+1 and 2N-1
Term
Chiasma (pl: chiasmata)
Definition
Visible area where chromosomes cross each other.
Term
Recombination
Definition
Usually occurs during the prophase of meiosis, can also occur during mitosis. DNA from one sister chromatid crosses over and combines with DNA on the other sister chromatid.
Term
Recombinase
Definition
Enzyme responsible for the recombination in mitosis and meiosis.
Term
Polar bodies
Definition
When eggs are produced in female meiosis, there is unequal division, producing these which do not survive through the entire process.
Term
Assortment
Definition
Different arrangements by which chromosomes can be lined up during meiosis. Accounts for some of the variability from one generation to the next.
Term
Haploid (1N)
Definition
Having only one set of chromosomes.
Term
Aneuploid
Definition
2N+1, 2N-1, 2N+2, etc.
Term
Polyploidy
Definition
Triploid = 3N, Tetraploid = 4N
Term
Turners syndrome
Definition
Having only one X. Results in an infertile female, web-neck and fingers, learning disabilities, inability to somersault.
Term
Klinefelter's syndrome
Definition
An individual having XXY sex chromosomes. Results in males with learning disabilities, small breasts, underdeveloped testes (but not sterile)
Term
Jacob's syndrome
Definition
An individual having XXY sex chromosomes. Results in large males with pitted faces, sometimes have learning disabilities.
Term
Barr body
Definition
Inactivated, shut down X chromosome in all females.
Term
Dosage compensation
Definition
Purpose of the production of barr bodies in females.
Term
Xist
Definition
Gene the produces the RNA that wraps around one X chromosome in females, targeting it to shut down and produce a Barr body.
Term
Lyonization
Definition
Process of shutting down one X chromosome to produce a Barr body.
Term
Codominant alleles
Definition
Neither allele masks the effect of the other. Example: A and B in blood type
Term
Multiple alleles
Definition
More than one allele for the same phenotypic characteristic. Example: A, B, and O in blood type.
Term
Incomplete dominance
Definition
Example: RR -> red flowers, Rr -> pink flowers, rr -> white flowers
Term
Haploinsufficient
Definition
Half of the copies are not sufficient to give the phenotype.
Term
Lethal gene
Definition
A gene mutation that causes premature death in heterozygotes if dominant, and in homozygotes if recessive.
Term
Penetrance
Definition
How often a gene results in the characteristic it is said to code for in a population, based on exposure to environmental factors. Example: Breast cancer, BRCAI is 98% penetrant.
Term
Expressivity
Definition
Level of gene expression.
Term
Sex limited traits
Definition
Traits that are limited to one sex or the other. Both sexes have genes for these traits on autosomes, but whether or not they are expressed depends on sex. Examples: breat development, facial hair.
Term
Sex-linked traits
Definition
Traits that are coded for by genes on the X or Y chromosomes
Term
Sex influenced traits
Definition
The expression of the genes that code for these traits is influenced by sex. Example: patterned baldness.
Term
Maternal effect genes
Definition
Genes that are already expressed by the mother in the egg when the offspring is produced.
Term
Gene imprinting
Definition
Shut down regions of chromosomes that can depend on which parent the individual inherited the gene from. The parent producing the chromosome can methylate an area of the chromosome to turn off genes.
Term
Epistatic and hypostatic
Definition
Gene 1 is _____ to gene 2 if it masks the effect of gene 2. Gene 2 is then said to be ______ to gene 1.
Term
Dominant epistasis
Definition
12:3:1 ratio resulting from gene interaction along a single pathway.
Term
Duplicate recessive epistasis
Definition
9:7 ratio resulting from gene interaction along a single pathway
Term
Recessive epistasis
Definition
9:3:4 ratio resulting from gene interaction along a single pathway
Term
Extranuclear inheritance
Definition
Traits passed on from the mitochondria of the mother to all progeny. Eg: poky in Neurospora.
Term
Three print test cross
Definition
Procedure to determine the order of genes along a chromosome.
Term
Open reading frame
Definition
Look for this when looking for a gene. Must have: unique amino acid sequence of particular length with promoter and enhancer, terminating sequence, stop codon, poly-A tail.
Term
Position effects
Definition
Variation in chromosome arrangement that changes what is next to what.
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