Shared Flashcard Set

Details

Genetics Final
Review of terms from ch 1-10, 12,13,15,18,25,26
127
Biology
Undergraduate 2
12/10/2010

Additional Biology Flashcards

 


 

Cards

Term
How many genes are within the human genome?
Definition
20-25,000 genes
Term
Pangenesis
Definition
Gemmules carry information from various parts of the body to the reproductive organs, from which they are passed to the embryo at the moment of conception. Persisted until the late 1800's.
Term
Genome
Definition
A complete set of genetic instructions for an organism
Term
Pseudodominance
Definition
Expression of normally recessive allele owing to a deletion o the homologous chromosome.
Term
Polyploidy
Definition
Expression of more than two haploid sets of chromosomes.
Term
Aneuploidy
Definition
Change from the wild type in the number of chromosomes; most often an increase or decrease of one or two chromosomes.
Term
Blending inheritance
Definition
Early concept of heredity proposing that offspring possess a mixture of the traits from both parents
Term
Alleles
Definition
Alternate form of a gene
Term
The first complete DNA sequence of a non viral organism was of what and in what year?
Definition
A bacterium in 1995
Term
Cell cycle checkpoints
Definition
A key transition point at which progression to the next stage in the cell cycle is regulated.
Term
Cell theory
Definition
States that all life is composed of cells, that cells arise only from other cells, and that the cell is the fundamental unit of structure and function in living organisms.
Term
Chi-square test
Definition
Term
Chromosomal causes of cancer
Definition
Checkpoints, telomeres etc...
Term
Chromosomes of Eukaryotes
Definition
Term
Cri du chat syndrome
Definition
Term
Deletions
Definition
Mutation in which one or more nucleotides are deleted from a DNA sequence
Term
Fragile Sites
Definition
Constriction or gap that appears at a particular location on a chromosome when cells are cultured under special conditions. One fragile site on the human X is associated with mental retardation and results from an expanding trinucleotide repeat
Term
Genotype
Definition
Set of genes possessed by an individual organism
Term
Germ Plasm theory
Definition
Cells in the reproductive organs carry a complete set of genetic information
Term
Gregor Mendel
Definition
German monk who is considered the father of genetics because of his work with pea plants, and monohybrid crosses. 2 laws laid the framework for modern study of genetics.
Term
Haploinsuffiency
Definition
Appearance of a mutant phenotype in an individual cell or organism that is heterozygous for a normally recessive trait
Term
Incomplete dominance
Definition
Refers to the phenotype of a heterozygote that is intermediate between that of the two homozygotes
Term
Inversion
Definition
Term
Karyotype
Definition
Picture of an individual organism's complete set of metaphase chromosomes
Term
Loci
Definition
Position on a chromosome where a specific gene is located
Term
Meiosis
Definition
Process in which chromosomes of a eukaryotic cell divide to give rise to haploid reproductive cells. Consists of two divisions: meiosis I and meiosis II
Term
Mendel's Principle of Independent Assortment
Definition
Each diploid individual possessed two alleles at a locus and that these two alleles separate when gametes are formed, one allele going into each gamete.
Term
Mitosis
Definition
Process of nucleus of a eukaryotic cell dividing
Term
Model genetic organism
Definition
Organism that is widely used in genetic studies because it has characteristics, such as short generation time and large numbers of progeny that make it well suited to genetic analysis
Term
Molecular genetics
Definition
Study of the chemical nature of genetic info and how it is encoded, replicated, and expressed
Term
Mosaicism
Definition
Condition in which regions of tissue within a single individual have different chromosome constitutions
Term
Nullisomy
Definition
Absence of both chromosomes of a homologous pair (2n-2).
Term
Paracentric inversion
Definition
Chromosome inversion that does not include the centromere in the inverted region
Term
Pericentric Inversion
Definition
Chromosome inversion that includes the centromere in the inverted region
Term
Population genetics
Definition
Study of the genetic composition of populations and how a population's collective group of genes changes with passage of time.
Term
Preformation
Definition
Early concept of inheritance proposing that a mini adult(homunculus) resides in either the egg or sperm and increases in size during development, with all traits being inherited from the parent that contributes the homunculus.
Term
Reciprocal translocation
Definition
crosses in which the phenotypes of the male and female parents are reversed. For example, in one cross, a tall male is crossed with a short female and in the other cross, a short male is crossed with a tall female.
Term
Tandem duplication
Definition
Duplication of a chromosome segment that is adjacent to the original segment
Term
Telomeres
Definition
Stable end of a chromosome
Term
Telomerase
Definition
Enzyme that is made up of both protein and RNA and replicates the ends of eukaryotic chromosomes. The RNA part of the enzyme has a template that is complementary to repeated sequences in the telomere and pairs with them, providing a template for the synthesis of addition copies of the repeats.
Term
Test cross
Definition
A cross between an individual with an unknown genotype and an individual with the homozygous recessive genotype.
Term
Translocation
Definition
Movement of a chromosome segment to a nonhomologous chromosome or to a region within the same chromosome.
Term
Transmission genetics
Definition
Field of genetics that encompasses basic principles of genetics and how traits are inherited.
Term
Turner Syndrome
Definition
Human condition in which cells contain a single X chromosome and no Y chromosome (XO). PErsons are female in appearance, but do not undergo puberty and have poorly developed female secondary sex characteristics; most are sterile but have normal intelligence
Term
Unequal crossing over
Definition
Misalignment of the 2 DNA molecules during crossing over resulting in one DNA molecule with an insertion and the other with a deletion
Term
Uniparental disomy
Definition
Inheritance of both chromosomes of a homologous pair from a single parent.
Term
Auxotrophs
Definition
Bacteria or fungi that possess a nutritional mutation that disrupts its ability to synthesize an essential biological molecule;Can't grow on minimal medium, but can grow on minimal medium to which has been added the biological molecule that it cannot synthesize
Term
Bacterial DNA
Definition
Circular
Term
Chargaff's rules
Definition
A=T
C=G
Term
How is DNA charged?
Definition
Negative charge
Term
Codon
Definition
Sequence of 3 nucleotides that encodes one amino acid in a protein
Term
Anticodon
Definition
Sequence of 3 nucleotides in tRNA that pairs with the corresponding codon in mRNA in translation
Term
Conjugation
Definition
Mechanism by which genetic material may be exchanged between bacterial cells. 2 cells lie close together and a cytoplasmic connection forms between them. A plasmid or sometimes a part of the bacterial chromosome passes through this connection from one cell to the other.
Term
Consensus sequences
Definition
Comprises the most commonly encountered nucleotides found at a specific location in DNA or RNA
Term
Cotransformation
Definition
Process in which two or more genes are transferred together during cell transformation
Term
Cotransduction
Definition
Process in which two or more genes are transferred together from one bacterial cell to another. Only genes located close together or a bacterial chromosome will be cotransduced.
Term
DNA
Definition
Deoxyribonucleic Acid
Term
DNA gyrase
Definition
E. coli topoisomerase enzyme that relieves the torsional strain that builds up ahead of the replication fork
Term
DNA helicase
Definition
Protein that unwinds double-stranded DNA by breaking hydrogen bonds
Term
DNA ligase
Definition
Enzyme that catalyzes the formation of a phosphodiester bond between 3'-OH and 5'-phosphate groups in a DNA molecule
Term
DNA polymerase
Definition
Enzyme that synthesizes DNA
Term
F factor
Definition
Episome of E coli that controls conjugation and gene exchange between E coli cells. The F factor contains an origin of replication and genes that enable the bacterium to undergo conjugation
Term
Holliday junction
Definition
Model of homologous recombination that is initiated by single-strand breaks in a DNA molecule
Term
How do you initiate in vitro transcription?
Definition
DNtPA, RNA polymerase, Sigma factor
Term
Intron
Definition
Intervening sequence in a split gene; removed from the RNA after transcription
Term
Exon
Definition
Coding region of a split gene; after processing, the exons remain in mRNA
Term
Split gene
Definition
A gene that is interrupted by introns
Term
Enhancer
Definition
Sequence that stimulates maximal transcription of distant genes; affects only genes on the same DNA molecule, contains short consensus sequences, is not fixed in relation to the transcription start site, can stimulate almost any promoter in its vicinity, and may be upstream or downstream of the gene. The function of an enhancer is independent of sequence orientation.
Term
Okazaki fragment
Definition
short stretch of newly synthesized DNA. Produced by discontinuous replication on the lagging strand, these fragments are eventually joined together.
Term
Origin of replication
Definition
Site where DNA synthesis is initiated
Term
Plasmids
Definition
Small, circular DNA molecule found in bacterial cells that is capable of replicating independently from the bacterial chromosome
Term
Primase
Definition
Enzyme that synthesizes a short stretch of RNA on a DNA template ; functions in replication to provide a 3'-OH group for the attachment of a DNA nucleotide
Term
Promoter
Definition
DNA sequence to which the transcription apparatus binds so as to initiate transcription; indicates the direction of transcription
Term
What is the function of proteins?
Definition
Structure/shape determines function
Term
Pyramidine
Definition
Cytosine, Thymine, Uracil
Term
Purine
Definition
Adenosine, Guanine
Term
Replication
Definition
Process by which DNA is synthesized from a single-stranded nucleotide template
Term
Reverse transcriptase
Definition
Enzyme capable of synthesizing complementary DNA from and RNA template
Term
Rho independent terminator
Definition
Sequence in bacterial DNA that does not require the presence of the rho subunit of RNA polymerase to terminate transcription
Term
Rho dependent terminator
Definition
Sequence in bacterial DNA that requires the presence of the rho subunit of RNA polymerase to terminate transcription
Term
What is the function of ribosomes in transcription?
Definition
Ribosomes are the factory for protein synthesis
Term
Theta replication
Definition
Replication of circular DNA that is initiated by the unwinding of the two nucleotide strands, producing a replication bubble. Unwinding continues at one or both ends of the bubble, making it progressively larger. DNA replication on both of the template strands is simultaneous with unwinding until the two replication forks meet.
Term
Topoisomerases
Definition
Enzyme that adds or removes rotations in a DNA helix by temporarily breaking nucleotide strands; controls the degree of DNA supercoiling
Term
Transcription
Definition
Process by which RNA is synthesized from a DNA template
Term
Transduction
Definition
Type of gene exchange that takes place when a virus carries genes from one bacterium to another. After it is inside the cell, the newly introduced DNA may undergo recombination with the bacterial chromosome
Term
Transformation
Definition
Mechanism by which DNA found in the medium is taken up by the cell. After transformation, recombination may take place between the introduced genes and the cellular chromosome.
Term
Translation
Definition
Process by which protein is assembled from info contained in mRNA
Term
tRNA
Definition
RNA molecule that carries an amino acid to the ribosome and transfers it to a growing polypeptide chain in translation
Term
mRNA
Definition
RNA molecule that carries genetic information for the amino acid sequence of a protein.
Term
rRNA
Definition
RNA molecule that is a structural component of the ribosome.
Term
Watson and Crick
Definition
Discovered the structure of DNA in 1953
Term
Amniocentesis
Definition
Procedure used for prenatal genetic testing to obtain a sample of amniotic fluid from a pregnant woman. A long sterile needle is inserted through the ab wall into the amniotic sac to obtain the fluid.
Term
Antibody
Definition
Produced by a B cell, a protein that circulates in the blood and other body fluids. An antibody binds to a specific antigen and marks it for destruction by making it easier for a phagocytic cell to ingest the antigen.
Term
Anticipation
Definition
Increasing severity or earlier age o onset of a genetic trait in succeeding generations. For example, symptoms of a genetic disease may become more severe as the trait is passed from generation to generation
Term
Antigens
Definition
Substance that is recognized by the immune system and elicits an immune response. In blood the antigens determine blood type:
agglutination upon addition of A antigen gives blood type A
Term
Barr Body
Definition
Condensed, darkly staining structure that is found in most cells of female placental mammals and is an inactivated X chromosome
Term
Chorionic Villus Sampling (CVS)
Definition
Procedure used for prenatal genetic testing in which a small piece of the chorion (outer layer of the placenta) is removed from a pregnant woman. A catheter is inserted throigh the vag and cervix into the uterus. Suction is then applied to remove the sample.
Term
Codominance
Definition
Type of allelic interaction in which the heterozygote simultaneously expresses traits of both homozygotes
Term
Colchicine
Definition
When preparing a karyotype, stops mitotic division and prevents entering anaphase
Term
Complementation
Definition
2 different mutations in the heterozygous condition are exhibited as the wild-type phenotype; indicates that the mutations are at different loci
Term
Concordance
Definition
Percentage of twin pairs in which both twins have a particular trait
Term
Consanguinity
Definition
Mating between related individuals
Term
What is the genetic difference between chimps and humans?
Definition
1%
Term
What organelles contain DNA?
Definition
Nucleus, mitochondria, and chloroplasts all contain DNA
Term
Dominance
Definition
Refers to an allele or a phenotype that is expressed in homozygotes and in heterozygotes; only the dominant allele is expressed in a heterozygote phenotype
Term
Dosage compensation
Definition
Equalization in males and females of the amount of protein produced by X linked genes. In placental mammals dosage compensation is accomplished by the random inactivation of one X chromosome in the cells of females.
Term
Epistasis
Definition
Type of gene interaction in which a gene at one locus masks or suppresses the effects of a gene at a different locus
Term
Why are erythrocytes not used in cytogenetic testing?
Definition
Because they do not contain nuclei when they enter the peripheral blood
Term
Expressivity
Definition
Degree to which a trait is expressed
Term
Genomic imprinting
Definition
Differential expression of a gene that depends on the sex of the parent that transmitted the gene. If the gene is inherited from the father, its expression is different from that if it is inherited from the mother.
EX: Angelman's v. Prader Willi
Term
Klinefelter's
Definition
Human condition in which cells contain one or more Y chromosomes along with multiple X chromosomes. Persons are male in appearance, but frequently possess small testes, some breast enlargement, and reduced facial and pubic hair; often taller than normal and sterile, most have normal intelligence
Term
Do leukocytes go through mitosis after they enter peripheral blood?
Definition
No
Term
Monozygotic Twins
Definition
Identical twins that arise when a single egg fertilized by a single sperm splits into two separate embryos
Term
Dizygotic twins
Definition
Nonidentical twins that arise when two separate eggs are fertilized by two separate sperm. AKA fraternal twins
Term
Norm of reaction
Definition
Range of phenotypes produced by a particular genotype in different environmental conditions
Term
Pedigree
Definition
Pictorial representation of a family history outlining the inheritance of one or more traits or diseases
Term
Penetrance
Definition
Percentage of individuals with a particular genotype that expresses the phenotype expected of that genotype
Term
Pleiotropy
Definition
A single genotype influences multiple phenotypes
Term
Polygenic
Definition
Encoded by genes at many loci
Term
Proband
Definition
A person with a trait or disease for whom a pedigree is constructed
Term
Sex determination
Definition
Specification of sex. Sex-determining mechanisms include chromosomal, genic and environmental sex-determining systems.
Term
Sex-influenced characteristic
Definition
Encoded by autosomal genes that are more readily expressed in one sex. For EX: an autosomal dominant gene may have higher penetrance in males than in females or an autosomal gene may be dominant in males and recessive in females
Term
Sex limited characteristic
Definition
Encoded by autosomal genes and expressed in only one sex. Both males and females carry genes for sex-limited characteristics, but the characteristics appear in only one of the sexes
Term
Why are sex-linked lethal diseases only shown in males?
Definition
Term
Somatic cell hybridization
Definition
Fusion of different cell types
Term
Sex-determining region Y gene
Definition
On the Y chromosome, a gene that trigers male development; also known as the testis-determining factor (TDF) gene
Term
Why is sexual reproduction more favored than asexual?
Definition
Because sexual reproduction creates genetic variety
Supporting users have an ad free experience!