Pedigree Analysis - PC\|MAC
|Pedigree Analysis- Annotate the following informational text on pedigree. Use the symbols we have been utilizing this semester to annotate. Pull out 4 |
|important points from the text and summarize them in the margins as well. |
|What is it ? |
|A pedigree is a diagram of family relationships that uses symbols to represent people and lines to represent genetic relationships. These diagrams make |
|it easier to visualize relationships within families, particularly large extended families. Pedigrees are often used to determine the mode of |
|inheritance (dominant, recessive, etc.) of genetic diseases. A sample pedigree is below. |
|[pic] |
|How is it organized? |
|squares represent males |
|circles represent females. |
|Horizontal lines connecting a male and female represent mating. |
|Vertical lines extending downward from a couple represent their children. Subsequent generations are therefore written underneath the parental |
|generations and the oldest individuals are found at the top of the pedigree. |
|If the purpose of a pedigree is to analyze the pattern of inheritance of a particular trait, it is customary to shade in the symbol of all individuals |
|that possess this trait In the pedigree above, the grandparents had two children, a son and a daughter. The son had the trait in question. One of his |
|four children also had the trait. |
|Active Notes/ Cornell Style:- Create 5 questions that can be answers by reading the above selection. Write the questions on the left and answers on the|
|right. |
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|In the exercises below, assume that the trait in question is a genetic disease or abnormality. We will learn patterns of inheritance that have the |
|following modes of inheritance: |
|autosomal dominant |
|autosomal recessive |
|X-linked recessive |
|Developing Conclusions About Different Modes of Inheritance |
|Autosomal Dominant? Autosomal Recessive? |
|Answers Answers |
|[pic] [pic] |
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|X-Linked Recessive? |
|[pic] [pic] [pic] |
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|MAKING A PEDIGREE CHART |
|Now, follow the story, and make the appropriate pedigree chart. |
|This is the story of Grandma and Grandpa Flipnob, and their clan! They were married way back in 1933, and have been just like newlyweds ever since. From|
|their union, 4 individuals were created. Elizabeth, the eldest, was born in 1935. Fred soon followed in 1936. In 1939 Michelle was brought into this |
|world. Mickey (a surprise to the whole family was the baby of the family, not being born until 1950. |
|Elizabeth fell in love at a young age, and wed her high school sweetheart, David, in 1954. From this marriage, two bundles of joy came about (at the |
|same time): |
|John and Sonny - 1955 (twins)! |
|It took Fred a little longer to find his soul mate. Finally in 1970, Fred found the woman of his dreams, Wilma, and they were married. Since they |
|married so late in life, they only brought one new person into this world: |
|Barney - 1972 |
|Michelle was a hard working woman, and never found time in her schedule for love. She led a very productive and fulfilling life, but she never did marry|
|and have children. |
|Mickey was a wild one!! After a long string of girlfriends, he finally chose Monica to spend the rest of his life with. They were wed in 1975 and |
|brought two girls into this world: |
|Krista - 1977 |
|Janet - 1979 |
|Answer the following questions regarding your pedigree: |
|1. Who are the inlaws? |
|[pic] |
|2. What is the relationship between the people in the third generation? |
|[pic] |
|Now that you have your pedigree chart together, shade the appropriate circles and squared from the information to follow. Remember that individuals who |
|possess the RECESSIVE trait are to be filled in. Those individuals not filled in possess at least one dominant trait. |
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|Dominant/Recessive Inheritance - Freckles |
|Not having freckles is a recessive trait. |
|Grandpa Flipnob did not have freckles, but his beautiful bride did. |
|Fred and Michelle were the only two of their siblings to have freckles. |
|Of the grandchildren, the twins did not have freckles, and neither did Barney, but the two girls did. |
|Now: Using the guide provided, determine the genotypes of all individuals in this pedigree chart for freckles. Remember, having no freckles is a |
|RECESSIVE trait. |
|GUIDE |
|STEP 1 |
|Assign two recessive genes to any person on the pedigree whose symbol is shaded. Small letters are written below the persons symbol. |
|STEP 2 |
|Assign one dominant gene to any person on the pedigree whose symbol is unshaded. A capital letter is written below the persons symbol. |
|STEP 3 |
|Use the information given to you to determine the second alleles for each person with the dominant phenotype. |
|Example: We know that Grandpa Flipnob does not have freckles. If Grandma were BB, could any bb children be produced from Grandma and Grandpa? If Grandma|
|were Bb, could any bb children be produced from them? Do Punnett squares below to determine your answer. |
|From your results, what is Grandma s genotype? ____________________ |
|What must be the genotypes of their children? ____________ ____________ |
|(2nd generation) |
|Fill in these genotypes (along with Grandpa s) beside the appropriate circles and squares. |
|Complete this process until the entire pedigree is completed. |
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|Sex-Linked Inheritance - Colorblindness |
|To complete this part of the activity, you will need to make a copy of your pedigree chart. There is no guide to go along with this section. Just |
|remember to determine the genotypes of those possessing the sex-linked trait first. From there, using Punnett squares, you should be able to determine |
|the genotypes of most, if not all of the family. |
|Neither Grandma or Grandpa Flipnob are colourblind. |
|All of their children have normal colour vision, except for Mickey. |
|Of the grandchildren, the twins both inherited colourblindness, as did their cousins, Barney and Janet. |
|There still remains one colourblind person in this clan, however, that is up to you to determine who. |
|What are the genotypes of the individuals in the Flipnob family for colourblindness? |
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|In the exercises below, assume that the trait in question is a genetic disease or abnormality. We will learn patterns of inheritance that have the |
|following modes of inheritance: |
|autosomal dominant |
|autosomal recessive |
|X-linked recessive |
|Developing Conclusions About Different Modes of Inheritance |
|Autosomal Dominant |
|1. The pedigree below is for a genetic disease or abnormality. We do not yet know if it is dominant or recessive. We will determine if it is possible |
|that the trait is autosomal dominant. If the trait were dominant, we would use the following designations: |
|A = the trait (a genetic disease or abnormality, dominant) |
|a = normal (recessive) |
|If the trait were recessive, we would use the following designations: |
|A = normal (dominant) |
|a = the trait (a genetic disease or abnormality, recessive) |
|a) Assume for the moment that the trait is dominant (we don't know yet). The pedigree shows that three of the individuals have the recessive (normal) |
|phenotype and one individual has the dominant (abnormal) phenotype. Write the genotype of the affected (abnormal) individual next to her symbol in the |
|pedigree below. If you only know one of the genes (letters), use a "?" for the unknown letter. If possible, write the genotype of the three recessive |
|individuals next to their symbols. As you attempt to write the genotypes, keep in mind that the pedigree may not be possible for a dominant trait; it |
|may not be possible to write the genotypes. |
|[pic] |
|b) Is it possible that the pedigree above is for an autosomal dominant trait? |
|c) Write the genotypes next to the symbol for each person in the pedigree below assuming that it is for a dominant trait. |
|[pic] |
|d) Is it possible that this pedigree is for an autosomal dominant trait |
|e) What can you conclude from these two examples about the parents of a child that has a dominant characteristic? Put your answer to this question in |
|the summary table (item #1) in the answer sheet. |
|2. We will determine if the pedigree below can be for a trait that is autosomal dominant. Use "A" and "a" as you did for the pedigrees above. |
|a) Write the genotype of each individual next to the symbol. |
|[pic] |
|b) Is it possible that this pedigree is for an autosomal dominant trait? |
|c) In conclusion, can two individuals that have an autosomal dominant trait have unaffected children? Put your answer to this question in the summary |
|table (item #2) in the answer sheet. |
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|Autosomal Recessive |
|3. We will determine if the pedigree below can be for a trait that is autosomal recessive. Use the following designations: |
|A = normal |
|a = the trait (a genetic disease or abnormality) |
|a) Assuming that the trait is recessive, write the genotype of each individual next to the symbol. |
|[pic] |
|b) Is it possible that the pedigree above is for an autosomal recessive trait? |
|c) Assuming that the pedigree below is for a recessive trait, write the genotype next to the symbol for each person. |
|[pic] |
|d) Is it possible that this pedigree is for an autosomal recessive trait? |
|e) If a trait is autosomal recessive, what can you conclude about the children if both parents are affected? Put your answer to this question in the |
|summary table (item #3) in the answer sheet. |
|4. We will determine if the pedigree below can be for a trait that is autosomal recessive. Use "A" and "a" as you did for the previous example. |
|a) Write the genotype of each individual next to the symbol. |
|[pic] |
|b) Is it possible that this pedigree is for an autosomal recessive trait? |
|c) If a trait is autosomal recessive, what can you conclude about the children of two parents that are not affected? Put your answer to this question in|
|the summary table (item #4) in the answer sheet. |
|5. We will determine if the pedigree below can be for a trait that is autosomal recessive. |
|a) Write the genotype of each individual next to the symbol. |
|[pic] |
|b) Is it possible that this pedigree is for an autosomal recessive trait? |
|c) In this pedigree, two generations have been skipped. What can you conclude about recessive traits skipping generations (is it possible or not)? Put |
|your answer to this question in the summary table (item #5) in the answer sheet. |
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|X-Linked Recessive |
|The conclusions that you made for autosomal recessive traits apply to X-linked traits. In this exercise, we will work on some additional conclusions |
|because males have only one X chromosome and females have two. |
|6. We will determine if the pedigrees below can be for a trait that is X-linked recessive. Use the following designations: |
|XA = normal |
|Xa = the trait (a genetic disease or abnormality) |
|Y = Y chromosome (males only) |
|a) Write the genotype of each individual next to the symbol. |
|[pic] |
|b) Is it possible that the pedigree above is for an X-linked recessive trait? |
|c) Write the genotype next to the symbol for each person in the pedigree below. |
|[pic] |
|d) Is it possible that this pedigree is for an X-linked recessive trait? |
|e) Write the genotype next to the symbol for each person in the pedigree below. |
|[pic] |
|f) Is it possible that this pedigree is for an X-linked recessive trait? |
|g) Write the genotype next to the symbol for each person in the pedigree below. |
|[pic] |
|h) Is it possible that this pedigree is for an X-linked recessive trait? |
|i) What can you conclude about the children of mothers affected with an X-linked recessive characteristic? Put your answer to this question in the |
|summary table (item #6) in the answer sheet. |
|7. We will determine if the pedigree below can be for a trait that is X-linked recessive. We will continue to use the designations "XA and Xa". |
|a) Write the genotype of each individual next to the symbol. |
|[pic] |
|b) Is it possible that this pedigree is for an X-linked recessive trait? |
|c) Which parent did the son get the Xa gene from? |
|d) What can you conclude about father-to-son transmission of X-linked traits? Put your answer to this question in the summary table (item #7) in the |
|answer sheet. |
|8. We will determine if the pedigree below can be for a trait that is X-linked recessive. |
|a) Write the genotype of each individual next to the symbol. |
|[pic] |
|b) Is it possible that this pedigree is for an X-linked recessive trait? |
|c) What can you conclude about the children if both parents are affected with an X-linked recessive trait? |
| d) How does this conclusion compare with the one you made earlier if about both parents being affected by an autosomal recessive trait? |
| e) Do the conclusions that you made for autosomal recessive traits apply to X-linked recessive traits? Put your answer to this question in the summary |
|table (item #8) in the answer sheet. |
| 9a. If a genetic disease is X-linked recessive, what is the phenotype of a female that has only one disease allele (Xa)? |
|b. What is the phenotype of a male with one disease allele? |
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|c. What can you conclude about the number of males that would have the disease compared to the number of females? Put your answer to this question in |
|the summary table (item #9) below. |
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|Application of Pedigree Analysis |
|The conclusions about inheritance (above) can be used to help analyze pedigrees. For each pedigree below, tell if the trait can be autosomal dominant, |
|autosomal recessive, and X-linked recessive. If the pedigree cannot fit a mode of inheritance, tell why. |
|Pedigree A |
|[pic] |
|Pedigree B |
|[pic] |
|Questions 10 through 15- enter either "yes" or "no" in the table below. |
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|Pedigree A |
|Pedigree B |
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|Autosomal dominant? |
|10) |
|11) |
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|Autosomal recessive? |
|12) |
|13) |
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|X-linked recessive? |
|14) |
|15) |
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|For each "no" in the table above, explain why or why not below. In your answers, refer to specific individuals in the pedigree by number. |
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|Pedigree A |
|Pedigree B |
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|Autosomal dominant |
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|Autosomal recessive |
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|X-linked recessive |
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