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all of the DNA found within all of our chromosomes |
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The study of the human genome provides |
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fundamental molecular details |
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The knowledge gained from the Human Genome Project will lead to... |
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improvements in the diagnosis, treatment and prevention of disease |
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Genetics is the study of ? It is the unifying discipline in |
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heredity and variation; biology |
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Genetics is the study of ? It is the unifying discipline in |
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heredity and variation; biology |
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segment of DNA that produces a functional product is called a ... |
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Genes provide the blueprint that determines the ? of an organism |
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Cells contain four main types of large molecules. They are... |
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Nucleic acids Proteins Carbohydrates Lipids |
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Nucleic acids, proteins and carbohydrates are termed... |
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Polymers constructed from smaller molecules called monomers |
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What do proteins determine? |
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cellular structure and function |
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Example of a structural protein and its function |
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Tubulin Aggregates to form microtubules Plays role in cell shape and movement |
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Example of a contractile protein and its function |
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Myosin plays a role in muscle contraction |
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Example of a hormonal protein and its function |
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Insulin Regulates the level of glucose in the blood |
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Enzymes are an important group of ? that are ... |
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proteins, biological catalysts |
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Catabolic enzymes are involved in ... and provide... |
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the breakdown of large molecules into smaller ones energy for the activities of the cell |
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Anabolic enzymes are involved in... and provide... |
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the synthesis of large molecules from smaller ones components for the construction of the cell |
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The genetic material in most living organisms is... |
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deoxyribonucleic acid (DNA) |
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DNA encodes the information required to... |
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synthesize all cellular proteins |
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What are the four nitrogenous bases? |
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Adenine (A) Thymine (T) Cytosine (C) Guanine (G) |
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The DNA in living cells is contained within large structures termed |
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Human cells have a total of ? chromosomes |
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Each chromosome is a complex of |
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An average human chromosome contains more than ? nucleotides about ? different genes |
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More than a 100 million nucleotides about 1,000 different genes |
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What are the two steps gene expression occurs in? |
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Transcription and translation |
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The genetic information in DNA is copied into a nucleotide sequence of ribonucleic acid (RNA) |
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The nucleotide sequence in RNA is converted (using the genetic code) into the amino acid sequence of a protein |
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any characteristic that an organism displays |
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Morphological traits affect... |
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the appearance of the organism |
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Physiological traits affect |
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the function of the organism |
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Behavioral traits affect... |
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the ways an organism responds to the environment |
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Traits are controlled, at least in part, by... |
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Differences in inherited traits among individuals within a population are referred to as... |
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Contrasting forms within a single species are termed as |
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Genetic variation is a result of various types of changes at the molecular level; 3 of which are... |
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Gene mutations Changes in chromosome structure Changes in chromosome number |
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Small differences in gene sequences Lead to two or more expression forms or alleles of the same gene |
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What is a change in chromosome structure? |
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Large segments of the chromosome may be lost or duplicated |
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What are changes in chromosome number? |
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Single chromosomes may be lost or gained A whole set of chromosomes may be inherited |
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Traits are governed by both... |
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Genes and by the Environment |
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In some cases, the environment dictates whether a disease is manifested in an individual or not. give an example. |
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Sexually reproducing species are diploid; have two copies of each chromosome; one from each parent |
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In humans, most cells have ? chromosomes ? homologous pairs |
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What are gametes? haploid or diploid? have how many chromosomes? |
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sperm and egg cells haploid 23 |
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Sexual reproduction enhances... |
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what is biological evolution? |
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genetic makeup of a population changing over many generations |
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Biological evolution is possible because of |
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Genetics encompasses four biological disciplines, they are... |
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Molecular Cellular Organismal Population |
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“Seeds” are produced by all parts of the body Collected in the reproductive organs Then transmitted to offspring at moment of conception |
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Theory of preformationism |
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Factors that control hereditary traits are malleable They can blend together generation after generation |
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Blending theory of inheritance |
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The mating or crossing between two individuals that have different characteristics |
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offspring that result from hybridization |
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The garden pea was advantageous in study the natural laws governing plants hybrids because... |
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1. It existed in several varieties with distinct characteristics 2. Its structure allowed for easy crosses where the parents could be controlled |
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What were the two types of crosses carried out by Mendel? |
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Self Fertilization and cross fertilzation |
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Pollen and egg are derived from the same plant |
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Pollen and egg are derived from different plants |
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The morphological characteristics of an organism are termed |
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A variety that produces the same trait over several generations is termed a |
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Seven traits Mendel studied |
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height flower color flower position seed color see shape pod color pod shape |
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a quantitative analysis of crosses may provide a mathematical relationship |
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Mendel's experiments were designed to |
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determine the relationships that govern hereditary traits |
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Each trait Mendel studied showed two ?or forms found in the same species |
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cross only two variants of one trait at a time |
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What results were evidence for refuting the blending mechanism of heredity? |
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1. The F1 generation showed only one of the two parental traits 2. The F2 generation showed an ~ 3:1 ratio of the two parental traits |
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particulate theory of inheritance |
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The units governing traits remain unchanged from generation to generation. |
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When the two factors of a single trait are different One is ? and its effect can be seen The other is ? and is not expressed |
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Mendelian factors are now called |
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different versions of the same gene |
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An individual with two identical alleles |
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An individual with two different alleles |
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specific allelic composition of an individual trait |
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Crossing individual plants that differ in two traits |
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Traits not found in the parental generation |
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The Law of Independent assortment states that |
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During gamete formation, the segregation of any pair of hereditary determinants is independent of the segregation of other pairs |
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How do modern geneticists determine the relationship between the outcome of traits and the molecular expression of genes? |
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Identify an individual with a defective copy of the gene Observe how this copy will affect the phenotype of the organism |
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Since it is not ethical to control parental crosses with humans, what do geneticists rely on to gather this same information? |
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pedigrees or family trees |
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Pedigree analysis is used to |
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determine the pattern of inheritance of traits in humans |
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the chance that the event will occur in the future |
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The accuracy of the probability prediction depends largely on |
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Random sampling error is ? for small samples and ? for large samples |
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To compute probability, we can use three mathematical operations they are |
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Sum rule Product rule Binomial expansion equation |
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The probability that one of two or more mutually exclusive events will occur is the sum of their respective individual probabilities |
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The probability that two or more independent events will occur together is equal to the product of their respective probabilities |
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no real difference between the observed and expected values as predicted by the hypothesis or explanation a phenomena |
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Low chi square values indicate a ? probability that the observed deviations could be due to random chance alone |
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High chi square values indicate a ? probability that the observed deviations are due to random chance alone |
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Mendelian inheritance describes inheritance patterns that obey two laws |
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Law of segregation Law of independent assortment |
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Prevalent alleles in a population are termed ? These typically encode proteins that... |
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wild-type alleles Function normally Are made in the right amounts |
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They are likely to cause a reduction in the amount or function of the encoded protein |
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In many human genetic diseases , the recessive allele contains a |
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In many human genetic diseases , the recessive allele contains a |
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prevents the allele from producing a fully functional protein |
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How can the wild-type phenotype of the heterozygote be explained? Two explanations |
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1. 50% of the normal protein is enough to accomplish the protein’s cellular function
2. The heterozygote may actually produce more than 50% of the functional protein The normal gene is “up-regulated” to compensate for the lack of function of the defective allele |
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In ? dominance the heterozygote exhibits a phenotype that is intermediate between the corresponding homozygotes |
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In some instances, a dominant allele is not expressed in a heterozygote individual this is called ? Give an example |
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incomplete penetrance polydactyly |
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The measure of penetrance is described at the ? level |
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the degree to which a trait is expressed |
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environmental influence on phenotypic range |
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? is the phenomenon in which a heterozygote is more vigorous than both of the corresponding homozygotes |
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At the molecular level, overdominance is due to |
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alleles that produce slightly different proteins |
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Composed of two different subunits Encoded by two alleles of the same gene |
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Heterosis is different from overdominance, because |
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it typically involves many genes |
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temperature-sensitive conditional allele |
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The enzyme encoded by this gene is functional only at low temperatures |
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Traits where an allele is dominant in one sex but recessive in the opposite sex |
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lethal alleles are typically the result of |
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mutations in essential genes |
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Multiple effects of a single gene on the phenotype of an organism is called |
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Gene interactions occur when two or more different genes influence the outcome of a |
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? is when the alleles of one gene mask the phenotypic effects of the alleles of another |
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The ? describes how the transmission of chromosomes account for the Mendelian patterns of inheritance |
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chromosome theory of inheritance |
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The chromosome theory of inheritance allows us to see the relationship between... |
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Mendel’s laws and chromosome transmission |
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? are structures within living cells that contain the genetic material- they contain the genes |
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In eukaryotes the DNA-protein complex is called |
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Biochemically, chromosomes are composed of |
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Contains most of the genetic material in the form of two or more linear chromosomes |
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Members of a pair of chromosomes are called |
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having two sets of chromosomes |
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the means by which some unicellular organisms produce new individuals |
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where chromosomes are replicated |
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The two copies of a replicated chromosome are termed... |
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They are joined at the ? to form a pair of sister chromatids |
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the cell accumulates the materials that are necessary for nuclear and cell division |
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The primary purpose of mitosis is to |
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distribute the replicated chromosomes to the two daughter cells |
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contains a single set of chormosomes |
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During ?, haploid cells are produced from diploid cells |
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Meiosis I is followed by ? and then ? |
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