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Slide 1-

Unit 7-Meiosis, Genetics and Heredity
Slide 2-

Organisms that reproduce Sexually are made up of two different types of cells. Somatic Cells are “body” cells and contain the normal number of chromosomes ….called the “Diploid” number (the symbol is 2n). Examples would be … skin cells, brain cells, etc. Gametes are the “sex” cells and contain only ½ the normal number of chromosomes…. called the “Haploid” number (the symbol is n)….. Sperm cells and ova are gametes. n = number of chromosomes in the set… so….2n means 2 chromosomes in the set…. Polyploid cells have more than two chromosomes per set… example: 3n (3 chromosomes per set)
Slide 3-

Gametes The Male Gamete is the Sperm and is produced in the male gonad the Testes. The Female Gamete is the Ovum (ova = pl.) and is produced in the female gonad the Ovaries.
Slide 4-

During Ovulation the ovum is released from the ovary and transported to an area where fertilization, the joining of the sperm and ovum, can occur…… fertilization, in Humans, occurs in the Fallopian tube. Fertilization results in the formation of the Zygote. (fertilized egg) Sperm + Ovum (egg) Zygote fertilization
Slide 5-

Fertilization The fusion of a sperm and egg to form a zygote. A zygote is a fertilized egg
Slide 6-

Chromosomes If an organism has the Diploid number (2n) it has two matching homologues per set. One of the homologues comes from the mother (and has the mother’s DNA).… the other homologue comes from the father (and has the father’s DNA). Most organisms are diploid. Humans have 23 sets of chromosomes… therefore humans have 46 total chromosomes….. The diploid number for humans is 46 (46 chromosomes per cell).
Slide 7-

Homologous Chromosomes Pair of chromosomes (maternal and paternal) that are similar in shape and size. Homologous pairs (tetrads) carry genes controlling the same inherited traits. Each locus (position of a gene) is in the same position on homologues. Humans have 23 pairs of homologous chromosomes. 22 pairs of autosomes 1 pair of sex chromosomes
Slide 8-

Homologous Chromosomes (because a homologous pair consists of 4 chromatids it is called a “Tetrad”) Paternal Maternal eye color locus eye color locus hair color locus hair color locus
Slide 9-

Humans have 23 Sets of Homologous Chromosomes Each Homologous set is made up of 2 Homologues. Homologue Homologue
Slide 10-

Autosomes (The Autosomes code for most of the offspring’s traits) In Humans the “Autosomes” are sets 1 - 22
Slide 11-

Sex Chromosomes The Sex Chromosomes code for the sex of the offspring. ** If the offspring has two “X” chromosomes it will be a female. ** If the offspring has one “X” chromosome and one “Y” chromosome it will be a male. XX chromosome - female XY chromosome - male In Humans the “Sex Chromosomes” are the 23rd set
Slide 12-

Sex Chromosomes “Sex Chromosomes” …….the 23rd set 23 This person has 2 “X” chromosomes… and is a female.
Slide 13-

Meiosis is the process by which ”gametes” (sex cells) , with half the number of chromosomes, are produced. During Meiosis diploid cells are reduced to haploid cells Diploid (2n)  Haploid (n) If Meiosis did not occur the chromosome number in each new generation would double…. The offspring would die.
Slide 14-

Meiosis Meiosis is Two cell divisions (called meiosis I and meiosis II) with only one duplication of chromosomes.
Slide 15-

Meiosis in males is called spermatogenesis and produces sperm. Meiosis in females is called oogenesis and produces ova.
Slide 16-

Spermatogenesis 4 sperm cells are produced from each primary spermatocyte. Primary Spermatocyte Secondary Spermatocyte Secondary Spermatocyte
Slide 17-

Oogenesis *** The polar bodies die… only one ovum (egg) is produced from each primary oocyte.
Slide 18-

Interphase I Similar to mitosis interphase. Chromosomes replicate (S phase). Each duplicated chromosome consist of two identical sister chromatids attached at their centromeres. Centriole pairs also replicate.
Slide 19-

Interphase I Nucleus and nucleolus visible. nuclear membrane nucleolus cell membrane chromatin
Slide 20-

Meiosis I (four phases) Cell division that reduces the chromosome number by one-half. four phases: a. prophase I b. metaphase I c. anaphase I d. telophase I
Slide 21-

Prophase I Longest and most complex phase. 90% of the meiotic process is spent in Prophase I Chromosomes condense. Synapsis occurs: homologous chromosomes come together to form a tetrad. Tetrad is two chromosomes or four chromatids (sister and nonsister chromatids).
Slide 22-

Prophase I - Synapsis
Slide 23-

During Prophase I “Crossing Over” occurs. During Crossing over segments of nonsister chromatids break and reattach to the other chromatid. The Chiasmata (chiasma) are the sites of crossing over. Crossing Over is one of the Two major occurrences of Meiosis (The other is Non-disjunction)
Slide 24-

Crossing Over creates variation (diversity) in the offspring’s traits. variation
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Question: A cell containing 20 chromosomes (diploid) at the beginning of meiosis would, at its completion, produce cells containing how many chromosomes?
Slide 26-

Answer: 10 chromosomes (haploid)
Slide 27-

Question: A cell containing 40 chromatids at the beginning of meiosis would, at its completion, produce cells containing how many chromosomes?
Slide 28-

Answer: 10 chromosomes
Slide 29-

Prophase I
Slide 30-

Metaphase I Shortest phase Tetrads align on the metaphase plate. INDEPENDENT ASSORTMENT OCCURS: 1. Orientation of homologous pair to poles is random. 2. Variation 3. Formula: 2n Example: 2n = 4 then n = 2 thus 22 = 4 combinations
Slide 31-

Metaphase I
Slide 32-

Anaphase I Homologous chromosomes separate and move towards the poles. Sister chromatids remain attached at their centromeres.
Slide 33-

Anaphase I
Slide 34-

Telophase I Each pole now has haploid set of chromosomes. Cytokinesis occurs and two haploid daughter cells are formed.
Slide 35-

Telophase I
Slide 36-

Meiosis II No interphase II (or very short - no more DNA replication) Remember: Meiosis II is similar to mitosis
Slide 37-

Prophase II same as prophase in mitosis
Slide 38-

Metaphase II same as metaphase in mitosis
Slide 39-

Anaphase II same as anaphase in mitosis sister chromatids separate
Slide 40-

Telophase II Same as telophase in mitosis. Nuclei form. Cytokinesis occurs. Remember: four haploid daughter cells produced. gametes = sperm or egg
Slide 41-

Telophase II
Slide 42-

Non-disjunction Non-disjunction is the failure of homologous chromosomes, or sister chromatids, to separate during meiosis. Non-disjunction results with the production of zygotes with abnormal chromosome numbers…… remember…. An abnormal chromosome number (abnormal amount of DNA) is damaging to the offspring. Non-disjunction is one of the Two major occurrences of Meiosis (The other is Crossing Over)
Slide 43-

Non-disjunctions usually occur in one of two fashions. The first is called Monosomy, the second is called Trisomy. If an organism has Trisomy 18 it has three chromosomes in the 18th set, Trisomy 21…. Three chromosomes in the 21st set. If an organism has Monosomy 23 it has only one chromosome in the 23rd set.
Slide 44-

Common Non-disjunction Disorders Down’s Syndrome – Trisomy 21 Turner’s Syndrome – Monosomy 23 (X) Kleinfelter’s Syndrome – Trisomy 23 (XXY) Edward’s Syndrome – Trisomy 18
Slide 45-

Downs’s Syndrome 47 chromosomes instead of 46 Forms on chromosome 21
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Turner’s Syndrome Turner syndrome is caused by a missing or incomplete X chromosome. People who have Turner syndrome develop as females. The genes affected are involved in growth and sexual development, which is why girls with the disorder are shorter than normal and have abnormal sexual characteristics.
Slide 47-

Kleinfelters Syndrome Klinefelter syndrome is a disorder that affects only males. Males normally have an X chromosome and a Y chromosome (XY). But males who have Klinefelter syndrome have an extra X chromosome (XXY), giving them a total of 47 instead of the normal 46 chromosomes. People with this disorder develop as males with subtle characteristics that become apparent during puberty. They are often tall and usually don't develop secondary sex characteristics, such as facial hair or underarm and pubic hair. The extra X chromosome primarily affects the testes, which produce sperm and the male hormone testosterone.
Slide 48-

Edward’s Syndrome Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. Other features of trisomy 18 include a small, abnormally shaped head; a small jaw and mouth; and clenched fists with overlapping fingers. Due to the presence of several life-threatening medical problems, many individuals with trisomy 18 die before birth or within their first month. Five to 10 percent of children with this condition live past their first year, and these children often have severe intellectual disability.
Slide 49-

Amniocentesis An Amniocentesis is a procedure a pregnant woman can have in order to detect some genetics disorders…..such as non-disjunction.
Slide 50-

Amniocentesis Amniotic fluid withdrawn
Slide 51-

Karyotype (picture of an individual’s chromosomes) One of the ways to analyze the amniocentesis is to make a Karyotype What genetic disorder does this karyotype show? Trisomy 21….Down’s Syndrome
Slide 52-

Introduction to Genetics If you were asked to describe yourself to a stranger so they could recognize you at the airport, what would you say? What traits make you unique and different from others?
Slide 53-

TASK We are going to look at the variety of traits that are “biological” and those that may not be. INDIVIDUALLY: Fill out the “Human Traits Survey” for yourself. AS A CLASS: Create 4 large graphs on which to draw histograms of the “Traits measured in centimeters” data. Students will be placing a sticker onto the chart for each person surveyed, eventually creating a bell curve distribution for each trait. The y axis for each trait should be labeled “Number of people”. Hand span – Label the x axis between 1-30 cm. Reaction time – Label the x axis between 1-30 cm. Reach – Label the x axis between 150-280 cm in 5 cm units. Broad jump – Label the x axis between 80-220 cm in 10 cm units
Slide 54-

TASK As a class: Create a summary table on which to synthesize the population data for the “Yes or no/multiple choice traits”. Students will put a tally mark beside the applicable trait for each person surveyed. The table should resemble the following: Cut the sheets of sticky dots into smaller sheets with 12 dots per sheet. If you are using multi-colored dots, make sure there are 3 dots of each color per sheet. Write your name (or initials) on 4 dots. Plot those dots onto the histograms where your own data falls. Place a tally mark beside each of your traits on the summary table.
Slide 55-

Task-DAY 2 In small teams, summarize the data – What was the average broad jump distance? What was the range? Were there any outliers? What percentage of people were blue eyed? What percentage had freckles? Look for patterns. Do the 4 histograms look the same in shape (they should all form a bell curve distribution)? What would histograms look like for the yes/no/multiple choice traits? What would the histograms look like for other traits that were not surveyed like height, age, favorite color, hair length, test scores, etc.? What is the source of all these differences between people (genes and environment)? Discuss the contribution of genetics (nature) versus environment (nurture). With broad jump distance as an example, how much is determined by genetics and how much is determined by environment like practice?
Slide 56-

History Genetics is the study of genes. Inheritance is how traits, or characteristics, are passed on from generation to generation. Chromosomes are made up of genes, which are made up of DNA. Genetic material (genes,chromosomes, DNA) is found inside the nucleus of a cell. Gregor Mendel is considered “The Father of Genetics"
Slide 57-

Gregor Mendel Austrian Monk. Experimented with “pea plants”. Used pea plants because: They were available They reproduced quickly They showed obvious differences in the traits Understood that there was something that carried traits from one generation to the next- “FACTOR”.
Slide 58-

Mendel cont…… In the mid-1800s, the rules underlying patterns of inheritance were uncovered in a series of experiments performed by an Austrian monk named Gregor Mendel.
Slide 59-

Mendel's Plant Breeding Experiments Gregor Mendel was one of the first to apply an experimental approach to the question of inheritance. For seven years, Mendel bred pea plants and recorded inheritance patterns in the offspring. Particulate Hypothesis of Inheritance Parents pass on to their offspring separate and distinct factors (today called genes) that are responsible for inherited traits.
Slide 60-

Mendelian Genetics Dominant traits- traits that are expressed. Recessive traits- traits that are covered up. Alleles- the different forms of a characteristic. Punnett Squares- show how crosses are made. Probability- the chances/ percentages that something will occur. Genotype- the types of genes (Alleles) present. Phenotype- what it looks like. Homozygous- two of the same alleles. Heterozygous- two different alleles.
Slide 61-

Mendel was fortunate he chose the Garden Pea Mendel probably chose to work with peas because they are available in many varieties. The use of peas also gave Mendel strict control over which plants mated. Fortunately, the pea traits are distinct and were clearly contrasting.
Slide 62-

To test the particulate hypothesis, Mendel crossed true-breeding plants that had two distinct and contrasting traits—for example, purple or white flowers. What is meant by “true breeding?” Mendel cross-fertilized his plants by hand. Why is it important to control which plants would serve as the parents?
Slide 63-

For each monohybrid cross, Mendel cross-fertilized true-breeding plants that were different in just one character—in this case, flower color. He then allowed the hybrids (the F1 generation) to self-fertilize.
Slide 64-

Typical breeding experiment P generation (parental generation) F1 generation (first filial generation, the word filial from the Latin word for "son") are the hybrid offspring. Allowing these F1 hybrids to self-pollinate produces: F2 generation (second filial generation). It is the analysis of this that lead to an understanding of genetic crosses.
Slide 65-

Mendel studies seven characteristics in the garden pea
Slide 66-

: Statistics indicated a pattern.
Slide 67-

How is it possible to maintain such genetic continuity? Martin Sheen Charlie Sheen Emilio Estevez Kirk Douglas Michael Kirk
Slide 68-

Chromosomes-draw them Homologous chromosome: one of a matching pair of chromosomes, one inherited from each parent. Sister chromatids are identical
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Slide 70-

What genetic principles account for the transmission of such traits from parents to offspring? The Blending Hypothesis of Inheritance In the early 1800’s the blending hypothesis was proposed. Genetic material contributed by the two parents mixes in a manner analogous to the way blue and yellow paints blend to make green. What would happen if this was the case? Blending of eye color
Slide 71-

Law of Dominance In the monohybrid cross (mating of two organisms that differ in only one character), one version disappeared. What happens when the F1’s are crossed? Make your prediction on your notes now…
Slide 72-

The F1 crossed produced the F2 generation and the lost trait appeared with predictable ratios. This led to the formulation of the current model of inheritance. Draw F 2 generation
Slide 73-

Alleles: alternative versions of a gene. –draw them The gene for a particular inherited character resides at a specific locus (position) on homologous chromosome. For each character, an organism inherits two alleles, one from each parent
Slide 74-

How do alleles differ? Dominant - a term applied to the trait (allele) that is expressed irregardless of the second allele. Recessive - a term applied to a trait that is only expressed when the second allele is the same (e.g. short plants are homozygous for the recessive allele). Dominant allele Recessive allele Recessive allele Recessive allele
Slide 75-

Probability and Punnett Squares Punnett square: diagram showing the probabilities of the possible outcomes of a genetic cross
Slide 76-

Genotype versus phenotype. How does a genotype ratio differ from the phenotype ratio? Genotype=what is on the chromosomes Phenotype=what is expressed physically
Slide 77-

TASK So, we have been talking about phenotype and genotype…now for the lab You and a partner are now going to “make babies” Materials: lab sheet, colored pencils, pennies
Slide 78-

Prelab questions Step 1-what is YOUR genotype (individually) Step 2-(partner) With your partner, decide which person will make sperm and which person will make eggs. Each person will make 2 gametes. Look closely at your genotype. Toss the coin for each gene (each trait). Heads  the gamete will have the first allele Tails  the gamete will have the second allele Step 3 (partner) You and your partner are now ready to have kids! You will make two kids. Sperm #1 will fertilize egg #1 to create baby #1. They combine their genes to make a baby. That baby now has two copies of each gene – one copy from mom, and one from dad. In the chart below, fill in each baby’s genotype and phenotype. Then, draw a picture in color of what that child will look like in middle school. Conclusion Questions (individually answer them)
Slide 79-

Punnett squares - probability diagram illustrating the possible offspring of a mating. Ss X Ss gametes
Slide 80-

Testcross A testcross is designed to reveal whether an organism that displays the dominant phenotype is homozygous or heterozygous.
Slide 81-

Variation in Patterns of Inheritance Intermediate Inheritance (blending): inheritance in which heterozygotes have a phenotype intermediate between the phenotypes of the two homozygotes
Slide 82-

How Does it Work?
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Slide 84-

The Importance of the Environment The environmental influences the expression of the genotype so the phenotype is altered. Hydrangea flowers of the same genetic variety range in color from blue-violet to pink, depending on the acidity of the soil. Multifactorial; many factors, both genetic and environmental, collectively influence phenotype in examples such as skin tanning
Slide 85-

Chromosome Theory of Inheritance Improved microscopy techniques, understand cell processes and genetic studies converged during the late 1800’s and early 1900’s. It was discovered that Mendelian inheritance has its physical basis in the behavior of chromosomes during sexual life cycles. Walter S. Sutton Theodor Boveri Hugo de Vries
Slide 86-

Pedigree analysis reveals Mendelian patterns in human inheritance In these family trees, squares symbolize males and circles represent females. A horizontal line connecting a male and female (--) indicates a mating, with offspring listed below in their order of birth, from left to right. Shaded symbols stand for individuals with the trait being traced.
Slide 87-

Transition: abnormalities They aren’t in your notes, it is just as a precursor to the research project
Slide 88-

Disorders Inherited as Recessive Traits Over a thousand human genetic disorders are known to have Mendelian inheritance patterns. Each of these disorders is inherited as a dominant or recessive trait controlled by a single gene. Most human genetic disorders are recessive. A particular form of deafness is inherited as a recessive trait.
Slide 89-

Many human disorders follow Mendelian patterns of inheritance Cystic fibrosis, which strikes one out of every 2,500 whites of European descent but is much rarer in other groups. One out of 25 whites (4% ) is a carrier. The normal allele for this gene codes for a membrane protein that functions in chloride ion transport between certain cells and the extracellular fluid. These chloride channels are defective or absent. The result is an abnormally high concentration of extracellular chloride, which causes the mucus that coats certain cells to become thicker and stickier than normal.
Slide 90-

Tay-Sachs disease is caused by a dysfunctional enzyme that fails to break down brain lipids of a certain class. Is proportionately high incidence of Tay-Sachs disease among Ashkenazic Jews, Jewish people whose ancestors lived in central Europe Sickle-cell disease, which affects one out of 400 African Americans. Sickle-cell disease is caused by the substitution of a single amino acid in the hemoglobin protein of red blood cells
Slide 91-

Dominantly Inherited Disorders Achondroplasia, a form of dwarfism with an incidence of one case among every 10,000 people. Heterozygous individuals have the dwarf phenotype. Huntington’s disease, a degenerative disease of the nervous system, is caused by a lethal dominant allele that has no obvious phenotypic effect until the individual is about 35 to 45 years old.
Slide 92-

Sex-Linked Disorders in Humans Duchenne muscular dystrophy, affects about one out of every 3,500 males born in the United States. People with Duchenne muscular dystrophy rarely live past their early 20s. The disease is characterized by a progressive weakening of the muscles and loss of coordination. Researchers have traced the disorder to the absence of a key muscle protein called dystrophin and have tracked the gene for this protein to a specific locus on the X chromosome. Posture changes during progression of Duchenne muscular dystrophy.
Slide 93-

Hemophilia is a sex-linked recessive trait defined by the absence of one or more of the proteins required for blood clotting.
Slide 94-

Color Blindness In Humans: An X-Linked Trait Numbers That You Should See If You Are In One Of The Following Four Categories: [Some Letter Choices Show No Visible Numbers] Sex-Linked Traits: Normal Color Vision: A: 29, B: 45, C: --, D: 26 Red-Green Color-Blind: A: 70, B: --, C: 5, D: -- Red Color-blind: A: 70, B: --, C: 5, D: 6 Green Color-Blind: A: 70, B: --, C: 5, D: 2
Slide 95-

Pattern Baldness In Humans: A Sex Influenced Trait Baldness is an autosomal trait and is apparently influenced by sex hormones after people reach 30 years of age or older. In men the gene is dominant, while in women it is recessive. A man needs only one allele (B) for the baldness trait to be expressed, while a bald woman must be homozygous for the trait (BB). What are the probabilities for the children for a bald man and woman with no history of baldness in the family?
Slide 96-

TASK Research Project Genetic disorders research project.doc
Slide 97-

DNA DNA is often called the blueprint of life. In simple terms, DNA contains the instructions for making proteins within the cell.
Slide 98-

Why do we study DNA? We study DNA for many reasons: its central importance to all life on Earth medical benefits such as cures for diseases better food crops.
Slide 99-

Chromosomes and DNA Chromosomes are made up of genes. Genes are made up of a chemical called DNA.
Slide 100-

The Shape of the Molecule DNA is a very long molecule. The basic shape is like a twisted ladder or zipper. This is called a double helix.
Slide 101-

One Strand of DNA-draw it The backbone of the molecule is alternating phosphate and deoxyribose, a sugar, parts. The teeth are nitrogenous bases. phosphate deoxyribose bases
Slide 102-

The Double Helix Molecule The DNA double helix has two strands twisted together. (In the rest of this unit we will look at the structure of one strand.)
Slide 103-

Nitrogenous Bases Line up G and C; T and A
Slide 104-

The Nucleus DNA is located in the nucleus
Slide 105-

DNA deoxyribonucleic acid The code of life
Slide 106-

Nucleotides-draw it One deoxyribose together with its phosphate and base make a nucleotide. C C C O Phosphate O Nitrogenous base Deoxyribose
Slide 107-

The Basics Each side of the ladder is made up of nucleic acids. The backbone is a phosphate and a sugar The rung of the ladder is the nitrogen base.
Slide 108-

Hydrogen Bonds When making hydrogen bonds, cytosine always pairs up with guanine, And adenine always pairs up with thymine. (Adenine and thymine are shown here.)
Slide 109-

Four nitrogenous bases Cytosine C Thymine T Adenine A Guanine G DNA has four different bases:
Slide 110-

Two Stranded DNA Remember, DNA has two strands that fit together something like a zipper. The teeth are the nitrogenous bases but why do they stick together?
Slide 111-

Important Adenine and Thymine always join together A -- T Cytosine and Guanine always join together C -- G
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Types of nitrogen bases A= adenine G= guanine C= cytosine T= thymine
Slide 113-

Do Now! Where is DNA located? What does it look like? What are its bases? Why do you think DNA is located there?
Slide 114-

Copying DNA Step 1- DNA unwinds and unzips Step 2- Once the molecule is separated it copies itself. The new strand of DNA has bases identical to the original
Slide 115-

DNA by the numbers Each cell has about 2 m of DNA. The average human has 75 trillion cells. The average human has enough DNA to go from the earth to the sun more than 400 times. DNA has a diameter of only 0.000000002 m. The earth is 150 billion m or 93 million miles from the sun.
Slide 116-

What’s the main difference between DNA and RNA
Slide 117-

RNA In RNA Thymine is replaced by Uracil A-U (RNA) not A-T (DNA)
Slide 118-

IF the DNA strand is GTACCAGATTAGC What would the RNA strand be?
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Transcription When a secretary transcribes a speech, the language remains the same. However, the form of the message changes from spoken to written
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Transcription Transcription- RNA is made from a DNA template in the nucleus. This type of RNA is called messenger RNA or mRNA
Slide 121-

Transcription DNA is protected inside the nucleus. mRNA carries the message of DNA into the cytoplasm to the ribosome's
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Translation To translate English into Chinese requires an interpreter. Some person must recognize the worlds of one language and covert them into the other.
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tRNA Transfer RNA The cells interpreter tRNA translated the three-letter codons of mRNA to the amino acids that make up protein.
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Translation Genetic translation converts nucleic acid language into amino acid language.
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Codon The flow of information from gene to protein is based on codons. A codon is a three-base word that codes for one amino acid
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The flow of information from gene to protein is based on codons.
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Information Flow: DNA to RNA to Protein
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