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3. You are working on a forensics research project examining ancient remains recovered from a burial site in Norway, dating to 1000AD. You believe the skeletons may belong to the infamous King Kristoff and Queen Anna. Historical records state that this royal couple produced two children, Sven and Olenna, who then married each other in an attempt to strengthen the royal bloodline. They had a single son named Hanns, who went on to have one son named Wolf with his wife Talisa (otherwise unrelated to the family). Wolf never married or had children, but he spent his life with a male companion named Leif. The burial site contains 8 relatively well-preserved adult skeletons. You are able to extract enough DNA to successfully PCR seven microsatellite (STR) loci plus the amelogenin locus and want to determine whether the relationships of these skeletons match the legend of King Kristoff & Queen Anna. The table below includes data for the first six skeletons that have been analyzed. Answer the following questions and include a completed copy of Table 1 in your answers file. For the purpose of this assignment assume that parental alleles are transmitted faithfully without any new mutations. Table 1. Genotyping and Identification of skeletons at the ancient burial site.Table 1. Genotyping and Identification of skeletons at the ancient burial site. A. Draw the pedigree of this family, according to the historical records described above. Number the generations but identify all individuals by name rather than number. B. The genotyping results for the last two skeletons have just arrived. Use the capillary electrophoresis images shown below (Figures 13 ) to extract the genotypes and add them to the table. C. Use the DNA profiles and pedigree structure to determine who is who. Identify each skeleton by name in the table and provide a brief written rationale explaining how you arrived at this conclusion. D. In addition to the adults, the burial site also contains a fetus that appears to have been born at approximately 20 weeks gestation and did not survive. Due to the small amount of DNA available in the fetus, only 3 microsatellite loci could be genotyped. The fetus's DNA profile is provided below. Are you able to determine whether the parents were Kristoff and Anna; Sven and Olenna; or Hanns and Talisa? Explain. E. Hanns famously lost his hand in the battle of Clontarf. DNA from hand bones recovered at another burial site match Hanns's DNA profile, but you want to determine how common this DNA profile might have been in ancient times. Estimated allele frequencies for this population based on all recovered ancient DNA samples are provided below in Table 2. According to this information, what is the expected frequency of Hanns's DNA profile in this population? Is this result convincing that the hand belongs to Hanns? Please show your work and provide your answer in the following format: l inFigure 1. Genotyping standards, showing the possible alleles observed .

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questions. How did semiconservative? and Stahl s experiments support the idea that DNA replication is 2. A new form of DNA is discovered that appears to be able to replicate itself both in the 3\' 5\' direct and in the sequence direction. If this is true, how would newly on replication differ from DNA replication as we this discovered DNA know it? 3. Amazingly, an alien species of cellular organism is found alive in the remains of a meteorite that landed in the Mojave Desert. As a scientist, you are trying to determine whether this alien life-form uses DNA, protein, or some other type of compound as its hereditary material a. What kinds of experiments would you propose to determine what the hereditary material b. If the hereditary material tums out to be similar to our DNA, describe the simplest experiments you could run to try to determine if is double-stranded like our DNA, triple-stranded, or some other configuration. Copyright 2014 Pearson Activity 15.3 Inc. Solution Answer to question 1 Nitrogen is one of the major constituent of DNA. 14N is by far the most abundant isotope of nitrogen, but DNA with the heavier 15N isotope is also functional. E. coli was grown for several generations in a medium containing NH4Cl with 15N. When DNA is extracted from these cells and centrifuged on a salt density gradient, the DNA separates out at the point at which its density equals that of the salt solution. The DNA of the cells grown in 15N medium had a higher density than cells grown in normal 14N medium. After that, E. coli cells with only 15N in their DNA were transferred to a 14N medium and were allowed to divide. DNA was extracted periodically and was compared to pure 14N DNA and 15N DNA. After one replication, the DNA was found to have intermediate density. Since conservative replication would result in equal amounts of DNA of the higher and lower densities (but no DNA of an intermediate density), conservative replication was excluded. However, this result was consistent with both semiconservative and dispersive replication. Semiconservative replication would result in double-stranded DNA with one strand of 15N DNA, and one of 14N DNA, while dispersive replication would result in double-stranded DNA with both strands having mixtures of 15N and 14N DNA, either of which would have appeared as DNA of an intermediate density. Meselson–Stahl continued to sample cells as replication continued. DNA from cells after two replications had been completed was found to consist of equal amounts of DNA with two different densities, one corresponding to the intermediate density of DNA of cells grown for only one division in 14N medium, the other corresponding to DNA from cells grown exclusively in 14N medium. This was inconsistent with dispersive replication, which would have resulted in a single density, lower than the intermediate density of the one-generation cells, but still higher than cells grown only in 14N DNA medium, as the original 15N DNA would have be.

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Human body cells contain 46 chromosomes. The first 22 pairs are called autosomes, and they contain numerous genes that affect the traits of the individual. The last pair, number 23, are the sex chromosomes. The sex chromosomes determine gender (i.e., either male or female), but there are other genes on this pair of chromosomes as well. Males sex chromosomes are XY, while female sex chromosomes are XX . The gametes in a human (either egg cells or sperm cells) contain only 23 chromosomes. Fertilization, the fusion of an egg and a sperm, restores the total of 46 chromosomes in a human zygote. Non-gamete cells are called somatic cells, and they have all 46 chromosomes in them. 1. Your sex chromosomes: XX Just as in Mendel's pea plant experiments, genes in humans can be dominant or recessive, and the results of "crosses" can be predicted using Punnett squares. A phenotype is the physical expression of a gene (made up of a pair of alleles). The genotype is the actual genetic makeup of the allele pair. An individual having two identical alleles for a gene is said to be homozygous. There can be homozygous dominant or homozygous recessive combinations. Dominant traits are represented by capital letters; recessive by lower case letters. An individual having non-identical alleles for a gene is said to be heterozygous. Note that the phenotype of a heterozygous individual is determined by the dominant gene. Dominant alleles tend to cover up the presence of any recessive alleles. In a case of alleles that show simple dominance / recessiveness, it is not possible to know if an individual who possesses a dominant trait has the homozygous dominant or the hatarnzunniic nanntune haced an nhanntuns tha onlv nne wo knnwe for rertain is the Accessibility: Investigate Example: What phenotypes and genotypes could one expect from a cross between two pea plants, one true-breeding for yellow seeds and the other true-breeding for green seeds? Yellow seeds are dominant to green. Complete the Punnett square below. Y The true-breeding The true- breeding green seed plant yellow seed plant can only contribute can only contribute a recessive allele. a dominant allele. Many human traits are controlled by a single pair of alleles and through simple dominant and recessive rules. Example: Tongue rolling - If you can roll your tongue lengthwise, you have the trait controlled by the dominant allele. Let " R " represent the dominant allele in your genotype and r represent the recessive allele. If you have the dominant phenotype, how do you know if you are homozygous dominant or heterozygous. That depends upon knowing if one of your parents couldn't roll their tongue. For example, my Dad cannot roll his tongue but I can. So, my genotype is Rr for this trait. If you do know know about your parents, then you have to put both possible genotypes for yourself, i.e. RR or Rr . 2. What is your phenotype (roller or non-roller)? 3. What is your genotype? A. If you and your parents can both ro.

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Gregor Mendel used pea plants to study heredity in a series of experiments. Mendel worked by carefully observing and recording traits in successive generations of plants. Knowledge about DNA and chromosomes came later. This lab will apply genetic laws to human inheritance using Punnett squares. Recall that DNA is wound tightly into chromosomes. Cells with only one set of chromosomes, such as sex cells, are haploid . When two haploid cells fuse during fertilization, a diploid zygote with two full sets of chromosomes is formed. Most cells of a mature individual are diploid. Homologous chromosomes have the same genes, but they might have different versions ( alleles ) of those genes. Diploid cells have two alleles for each gene. These alleles might be identical (gene A) or different (gene B). Each gene’s locus is its location on a chromosome. Human traits come through dominant or recessive inheritance. For example, the cystic fibrosis traits carried by a dominant allele are always expressed, even if the recessive gene is present (FF or Ff). The recessive is only expressed when two copies of the recessive allele are present (ff). Mother: Healthy carrier F f Father: Healthy carrier F FF Healthy non-carrier Ff Healthy carrier f Ff Healthy carrier FF Affected Human gender is carried on the X and Y chromosomes. Females are XX and males are XY. Heredity traits such as color blindness, which is the inability to distinguish among some colors, are carried on the X chromosome (X c ). The presence of one normal X C will allow normal vision. In this next set of exercises, you will determine the genotypes of the parents by considering the inheritance patterns of traits in their children. The following is a table of the phenotypes of the family members: Phenotype Alleles Parents Mother Not color blind Freckles Type B blood X c X C Ff I B i Father Color blind No freckles Type A blood X c Y Ff I A i Children Abby Color blind Freckles X c X c Ff or ff Brady Not color blind No freckles X C Y ff Carly Not color blind No freckles X c X C ff Dennis Color blind Freckles X c Y Ff or ff Exercise 1: Color Blindness Using the alleles XC (not color blind) and Xc (color blind), distribute the gametes from each parent to the outside of the Punnett square. Drag and drop the child with the correct phenotype to the box within the Punnett square that has the corresponding genotype that would occur from the fusion of egg and sperm as indicated by your placement of the gametes. Exercise 2: Freckles Freckles are groups of cells on the skin that produce the pigment melanin, often in response to exposure to ultraviolet (UV) light. The gene for freckles is inherited in a dominant/recessive pattern. A person carrying even a single copy of the dominant allele (F) will have freckles. A person who is homozygous recessive (ff) will have no freckles. Using the alleles F (freckles) and f (no freckles), distribute the gametes from each parent to the outside of the Punne.

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tgat is everything b. Draw a Punnett square to illustrate a crons between a birch hetenomygous for bark colour and trunk searring and a birch homory 6 ous recevise for both characteristios Give the rerulting genotypic and phenotypic ratios of the offspring of this cross. c. After prealatigg the results of the cross in part b. the actual cross between these white birch was carried out and resulted in the following numbers of offspring: 92 white bark, scarred trunk 96 grey bark, unscarred trunk 5 white bark, unscarred trunk 7 grey bark, scarred trunk Calculate the phenotypic and genotypic ratios of these offispring- How do these results compare to your predicted ratios above? You began this question with the assumption that the genes responsible for bark colour and trunk scarring were locared on separate chromosomes. Do the observed results support this assumption? Explain what these results mean and why you can make that conclusion. 8. A local farmer, plagued by roving herbivores, has decided to befriend a new herd of White-Tailed Deer (Odocoileus vinginiamus). Having taken a number of genetics courses during his Agriculture degree, the farmer decides to observe the heritability of a couple of phenotypic traits. In these deer, a white patch on the chest (R) is dominant to not having a patch ( r, and white spots along their side (T) are dominant to no spots(t). After a particularly hot summer, the farmer notices a new male deer in the area that looks to have been trapped by a forest fire- it's fur is badly singed, and none of the typical colouration is visible.Based on this, what are the genorypes of the gametes from an organism with the genotype QqRr ? Trae or False: These gametes will all be equally likely. 4. What are the two uses for a test cross? 3. a. 5. Give an example of a phenotypic frequency: 6. Give an cxample of a genotypic ratio: 7. In White birch (Bernila papyrifena, a species of tree), white bark (B) is dominant to grey bark (b), and the presence of black trunk scars (E) is dominant to an unscarred trunk (e). a. Assuming that these genes are located on separate chromosomes, draw a Punnett square to illustrate a cross between a birch homozygous for white bark and a scarred trunk and a birch with grey bark and unscarred trunk. What are the resulting genotype and phenotype of the F1 ?Give the realting genotypic and phenotypie ratios of the offipring of this crows. c. After prraictivg the results of the cross in part b, the actual cross between theie. white birch was carried out and reulied in the following number of otfopring 92 white bark, scurred trunk 96 grcy bark, unscarred trunk 5 white bark, unscarred trunk 7 grey bark, scarrod trunk Calculate the phenotypic and genotypic ratios of theie offspring. How do these remults compare to your predicted ratios above? You began this question with the assamption that the genes responsible for bark colour and trunk scarring were located on separate chromosomes. Do the observed resalis sup.

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2 3 4 5 Assignments \#1 Distinguish between the following genetic terms: A. Gene and allele. B. Homozygous and heterozygous. C. Genotype and phenotype. D. Dominant and recessive. 1. A man with red-green colour blindness is married to a girl with normal colour vision. What is the probability that his children will be colour blind? 2. A boy has Duchenne muscular dystrophy. His maternal uncle had died of muscular dystrophy at the age of 21 years. What is the probability that this child's sibs will be affected? Explain, giving reasons, whether the following pedigrees are compatible with autosomal dominant, autosomal recessive or X-linked dominant and X -linked recessive inheritance. (Note that a pedigree may be compatible with more than one type of inheritance.) a. b. c. a. b. c. Assignments \#4 Examine the pedigree from a family with a genetic disease and ansv the questions below: a. Does this pedigree indicate autosomal dominant, recessive or sex-link type of inheritance? Give reasons for your choice. b. Assuming that B and b are the normal and mutant alleles respectively what would be the genotypes of the individuals: II.I, II.2 and III.3? c. Individual II.3 requested genetic counselling. What is the probability that her child would be affected. Explain why. Susan's grandfather was deaf, and passed down a hereditary form of deafness within Susan's family as shown in Figure. A. Is this mutation most likely to be dominant or recessive? B. Is it carried on an autosome or a sex chromosome? Why? C. A complete SNP analysis has been done for all of the 11 grandchildren (4 affected, and 7 unaffected). In comparing these 11 SNP results, how long a haplotype block would you expect to find around the critical gene? How might you detect it? .

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