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genetics The scientific Modified from South Dakota Data Center) heredity study of heredity, which is controlled by genes Genes and chromosomes from one generation to the next -- parent to child Gene -- segment of DNA, codes for single protein, all genes together carry blueprint for organism chromosome -- carries genes, extremely long molecule of DNA Gregor Mendel Mendel continued Passing on of characteristics Born in 1822 in Czechoslovakia. Became a monk in 1843. Taught biology and had interests in statistics. After returning to the monastery he continued to teach and worked in the garden. Between 1856 and 1863 he grew and tested over 28,000 pea plants 1 Mendel’s Peas Easy to grow and to identify traits Quick and easy to produce many offspring in many generations Selective breeding easy Genes and dominance Trait : a characteristic, determined by one or more genes Mendel studied seven of these traits, such as the color of the peas He crossed plants showing contrasting traits, such as green peas crossed with yellow ones. He called the offspring the F1 generation or first filial. What will happen when pure yellow peas are crossed with pure green peas? What happened when he crossed pure yellow peas with pure green peas? All of the offspring were yellow. What did Mendel conclude? 1st conclusion: Inheritance is determined by factors passed on from one generation to another. Mendel knew nothing about chromosomes, genes, or DNA. Why? What were Mendel’s “factors” The “factors” that Mendel mentioned were the genes, which had not been discovered yet. Each gene has different forms called alleles Mendel’s second conclusion was that some alleles are dominant and some are recessive. 2 Mendel’s second cross He allowed the F1 generation to self- pollinate thus producing the F2 generation. Did the recessive allele completely disappear? What happened when he crossed two yellow pea hybrid (F1) plants? Results: ¾ of the peas were yellow, ¼ of the peas were green. WHY??? Because of the Law of Segregation: During the formation of the sex cells or gametes, the alleles separated or segregated to different gametes (pollen and egg) But what does that have to do with the color of peas? To explain, we need some definitions… Definitions • Genotype- the actual genes or alleles of an organism for one specific trait • Phenotype- the physical appearance of a trait in an organism • A Dominant allele or trait “hides” the recessive trait in the phenotype of an individual. • A recessive allele or trait is covered over (or dominated) by the dominant form and seems to disappear. 3 Definitions Then what? • Homozygous= two alleles that are the same for a trait (Pure -- YY or yy) • Heterozygous= two different alleles for a trait (Hybrid -- Yy) • Example below: P=dominant purple and p= recessive white The phenotype The phenotype for this flower is violet while its genotype (if homozygous) is PP. for this flower is white while its genotype is pp (to be white the flower must have two of the recessive copies of the allele). Punnett Square Developed by Reginald Punnett. • We use two letters to represent the genotype. A capital letter represents the dominant form of a gene (allele) and a lowercase letter is the abbreviation for the recessive form of the gene (allele). Punnett Squares We use a Punnett square to work out what the possible offspring of two parents will be. l This tool shows all the possible combinations and the probable offspring ratios or percentages. Probability The likelihood of a particular event occurring, chance Can be expressed as a fraction or a percent. 4 Probability and statistics Reading Punnett squares No one event has a greater chance of Gametes are placed above and to the occurring than another. You cannot predict the precise outcome of an individual event. The more trials performed, the closer the actual results to the expected outcomes. left of the square Offspring are placed in the square. Capital letters (Y) represent dominant alleles. Lower case letters (y) represent recessive alleles. Let’s set up a Punnett Square… Next, put the genotype of one parent across the top and the other along the left side. We begin by constructing a grid of two perpendicular lines. Notice only one letter goes above each box • Y y y Y • It does not matter which parent’s genotype goes on either side. For this example, let’s consider a genotype of YY crossed with yy for the yellow and green peas. Next, fill in the boxes by copying the column and row head-letters down and across into the empty spaces. Y y y Yy Yy Y Yy Yy 5 What happened when he crossed pure yellow peas with pure green peas? Now, let’s explain those “reappearing” green peas. Take two heterozygous plants from the 2nd generation and cross them: Y All of the offspring were yellow. y Y y How many of each type of pea do you get? Y Y y YY Yy Genotype: YY: 1/4 Yy: 2/4 yy: 1/4 y Y Yy Y yy y Results: ¾ of the peas were yellow, ¼ of the peas were green. YY Yy Phenotype: yellow: 3/4 green: 1/4 y Yy yy Punnett Squares Now that we have learned the basics of genetics, let’s walk through some examples using Punnett Squares. 6 Usually write the capital letter first For flowers: W- dominant white w- recessive violet W w WWW Ww w Ww ww Usually write the capital letter first For flowers: W- dominant white w- recessive violet Parents in this cross are heterozygous (Ww). Parents in this cross are heterozygous (Ww). Note: Make sure your capital letters are different from lowercase letters. Note: Make sure your capital letters are different from lowercase letters. What percentage of the offspring will have violet flowers? What percentage of the offspring will have violet flowers? ANSWER: 25% (homozygous recessive) Red hair (R) is dominant over blond hair (r). Make a cross between a heterozygous red head and a blond. R r r r Rr rr Rr rr What percentage of the offspring will have red hair? 50% Black eyes (R) is dominant over red eyes (r) in rats. Make a cross between a homozygous rat with black eyes and a rat with red eyes. r R Rr R Rr r Rr Rr Let’s try some more… In pea plants, tall pea plants (T) are dominant over short pea plants (t). Construct a Punnett Square for a heterozygous tall pea plant and a short pea plant. T t t Tt tt t Tt tt What are the percentage of phenotypes? 50% tall 50% short What about 2 characteristics? Mendel studied 7 traits.What What is the possibility of a red eye off springs? 0% did he find out when he followed 2 traits at once? 7 He observed independent assortment Mendel tried 2 factor crosses For example, he followed the color Alleles separate independently during the formation of gametes. and shape of peas. Round yellow mated with wrinkled green -- RRYY x rryy • Offspring would all be hybrid for both traits (RrYy) Try it! 8 Incomplete dominance A situation in which neither allele is dominant. When both alleles are present a “new” phenotype appears that is a blend of each allele. Alleles will be represented by capital letters only. What happens when a red flower is crossed with a white flower? According to Mendel either some white and some red or all offspring either red or white. All are pink How does meiosis explain Mendel’s law of segregation? In the formation of gametes, each pair of chromosomes separates; different alleles on matching (homologous) chromosomes separate. Examples: Hh mother can pass on either H or h, but not both Japanese four-o-clock flowers Red flower plant genotype = RR White flower plant genotype = WW Pink flower plant genotype = RW Meiosis An orderly method of dividing a cell’s chromosomes so that the resulting cells are haploid (have exactly 1 copy of each chromosome) Meiosis produces gametes, which are sex cells How does meiosis explain Mendel’s law of independent assortment? • Complex organisms have multiple chromosomes, so it is likely that 2 different genes are on 2 different chromosomes. • The chromosomes sort independently, so most genes sort out independently as well. • Genes only sort together if they are on the same chromosome. In that case, we say they are linked. 9 Chromosome number Pollen is haploid All cells of an Gametes are organism contain a specific number of chromosomes. Most cells are diploid (2n) meaning they have two copies of each chromosome haploid (1n) meaning they have only 1 of each chromosome Human chromosomes gametes join to form a zygote (very Humans have 23 early embyo) pairs of chromosomes (46 total). the zygote has 2 copies of each chromosome -- one from mother and one from father One from each pair comes from mom and the other from dad. Human chromosomes One pair: sex chromosomes -determine gender: XX - female XY -- male Sex-linked Genes on the X chromosome are sex- linked. Sex-linked genes explain why colorblindness occurs more often in men than women. The other 22 pairs are called somatic chromosomes. 10 References http://www.athro.com/evo/gen/punnett.html http://www.kidshealth.org/kid/talk/qa/what_is_gene.html http://brookings.k12.sd.us/biology/ch%2011%20genetics/ punnettpractice.ppt#1 http://www.usoe.k12.ut.us/CURR/Science/sciber00/7th/genetics/ sciber/punnett.htm http://www.biotechnologyonline.gov.au/images/contentpages/ karyotype.jpg 11