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How many genes are within the human genome? |
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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. |
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A complete set of genetic instructions for an organism |
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Expression of normally recessive allele owing to a deletion o the homologous chromosome. |
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Expression of more than two haploid sets of chromosomes. |
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Change from the wild type in the number of chromosomes; most often an increase or decrease of one or two chromosomes. |
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Early concept of heredity proposing that offspring possess a mixture of the traits from both parents |
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The first complete DNA sequence of a non viral organism was of what and in what year? |
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A key transition point at which progression to the next stage in the cell cycle is regulated. |
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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. |
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Chromosomal causes of cancer |
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Checkpoints, telomeres etc... |
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Chromosomes of Eukaryotes |
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Mutation in which one or more nucleotides are deleted from a DNA sequence |
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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 |
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Set of genes possessed by an individual organism |
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Cells in the reproductive organs carry a complete set of genetic information |
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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. |
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Appearance of a mutant phenotype in an individual cell or organism that is heterozygous for a normally recessive trait |
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Refers to the phenotype of a heterozygote that is intermediate between that of the two homozygotes |
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Picture of an individual organism's complete set of metaphase chromosomes |
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Position on a chromosome where a specific gene is located |
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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 |
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Mendel's Principle of Independent Assortment |
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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. |
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Process of nucleus of a eukaryotic cell dividing |
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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 |
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Study of the chemical nature of genetic info and how it is encoded, replicated, and expressed |
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Condition in which regions of tissue within a single individual have different chromosome constitutions |
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Absence of both chromosomes of a homologous pair (2n-2). |
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Chromosome inversion that does not include the centromere in the inverted region |
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Chromosome inversion that includes the centromere in the inverted region |
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Study of the genetic composition of populations and how a population's collective group of genes changes with passage of time. |
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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. |
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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. |
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Duplication of a chromosome segment that is adjacent to the original segment |
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Stable end of a chromosome |
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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. |
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A cross between an individual with an unknown genotype and an individual with the homozygous recessive genotype. |
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Movement of a chromosome segment to a nonhomologous chromosome or to a region within the same chromosome. |
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Field of genetics that encompasses basic principles of genetics and how traits are inherited. |
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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 |
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Misalignment of the 2 DNA molecules during crossing over resulting in one DNA molecule with an insertion and the other with a deletion |
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Inheritance of both chromosomes of a homologous pair from a single parent. |
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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 |
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Sequence of 3 nucleotides that encodes one amino acid in a protein |
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Sequence of 3 nucleotides in tRNA that pairs with the corresponding codon in mRNA in translation |
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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. |
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Comprises the most commonly encountered nucleotides found at a specific location in DNA or RNA |
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Process in which two or more genes are transferred together during cell transformation |
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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. |
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E. coli topoisomerase enzyme that relieves the torsional strain that builds up ahead of the replication fork |
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Protein that unwinds double-stranded DNA by breaking hydrogen bonds |
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Enzyme that catalyzes the formation of a phosphodiester bond between 3'-OH and 5'-phosphate groups in a DNA molecule |
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Enzyme that synthesizes DNA |
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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 |
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Model of homologous recombination that is initiated by single-strand breaks in a DNA molecule |
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How do you initiate in vitro transcription? |
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DNtPA, RNA polymerase, Sigma factor |
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Intervening sequence in a split gene; removed from the RNA after transcription |
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Coding region of a split gene; after processing, the exons remain in mRNA |
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A gene that is interrupted by introns |
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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. |
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short stretch of newly synthesized DNA. Produced by discontinuous replication on the lagging strand, these fragments are eventually joined together. |
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Site where DNA synthesis is initiated |
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Small, circular DNA molecule found in bacterial cells that is capable of replicating independently from the bacterial chromosome |
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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 |
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DNA sequence to which the transcription apparatus binds so as to initiate transcription; indicates the direction of transcription |
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What is the function of proteins? |
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Structure/shape determines function |
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Cytosine, Thymine, Uracil |
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Process by which DNA is synthesized from a single-stranded nucleotide template |
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Enzyme capable of synthesizing complementary DNA from and RNA template |
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Rho independent terminator |
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Sequence in bacterial DNA that does not require the presence of the rho subunit of RNA polymerase to terminate transcription |
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Sequence in bacterial DNA that requires the presence of the rho subunit of RNA polymerase to terminate transcription |
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What is the function of ribosomes in transcription? |
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Ribosomes are the factory for protein synthesis |
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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. |
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Enzyme that adds or removes rotations in a DNA helix by temporarily breaking nucleotide strands; controls the degree of DNA supercoiling |
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Process by which RNA is synthesized from a DNA template |
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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 |
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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. |
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Process by which protein is assembled from info contained in mRNA |
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RNA molecule that carries an amino acid to the ribosome and transfers it to a growing polypeptide chain in translation |
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RNA molecule that carries genetic information for the amino acid sequence of a protein. |
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RNA molecule that is a structural component of the ribosome. |
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Discovered the structure of DNA in 1953 |
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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. |
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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. |
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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 |
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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 |
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Condensed, darkly staining structure that is found in most cells of female placental mammals and is an inactivated X chromosome |
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Chorionic Villus Sampling (CVS) |
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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. |
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Type of allelic interaction in which the heterozygote simultaneously expresses traits of both homozygotes |
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When preparing a karyotype, stops mitotic division and prevents entering anaphase |
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2 different mutations in the heterozygous condition are exhibited as the wild-type phenotype; indicates that the mutations are at different loci |
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Percentage of twin pairs in which both twins have a particular trait |
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Mating between related individuals |
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What is the genetic difference between chimps and humans? |
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What organelles contain DNA? |
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Nucleus, mitochondria, and chloroplasts all contain DNA |
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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 |
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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. |
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Type of gene interaction in which a gene at one locus masks or suppresses the effects of a gene at a different locus |
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Why are erythrocytes not used in cytogenetic testing? |
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Because they do not contain nuclei when they enter the peripheral blood |
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Degree to which a trait is expressed |
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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 |
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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 |
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Do leukocytes go through mitosis after they enter peripheral blood? |
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Identical twins that arise when a single egg fertilized by a single sperm splits into two separate embryos |
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Nonidentical twins that arise when two separate eggs are fertilized by two separate sperm. AKA fraternal twins |
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Range of phenotypes produced by a particular genotype in different environmental conditions |
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Pictorial representation of a family history outlining the inheritance of one or more traits or diseases |
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Percentage of individuals with a particular genotype that expresses the phenotype expected of that genotype |
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A single genotype influences multiple phenotypes |
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Encoded by genes at many loci |
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A person with a trait or disease for whom a pedigree is constructed |
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Specification of sex. Sex-determining mechanisms include chromosomal, genic and environmental sex-determining systems. |
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Sex-influenced characteristic |
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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 |
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Sex limited characteristic |
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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 |
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Why are sex-linked lethal diseases only shown in males? |
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Somatic cell hybridization |
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Fusion of different cell types |
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Sex-determining region Y gene |
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On the Y chromosome, a gene that trigers male development; also known as the testis-determining factor (TDF) gene |
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Why is sexual reproduction more favored than asexual? |
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Because sexual reproduction creates genetic variety |
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