Biology Lab Investigation #8: Meiosis B

Introduction: Biologists discovered chromosomes soon after the invention of the microscope in 1842. Chromosomes appear as deeply stained, thread-like structures (see Figure 1). Through careful observations, Biologists knew that chromosomes have distinct identities with specific individual features such as size and banding pattern (see Figure 2). They also discovered that chromosomes with the same features appear in the nuclei of different cells from the same individual, as well as in cells from different individuals from the same species. Over the next 60 years, Biologists gradually gathered enough evidence to show that chromosome number is one of the defining characteristics of a species. In other words, the members of any one species will have the same number of chromosomes. Humans for example, have 46 chromosomes, chimpanzees have 48, pea plants have 14 and fruit flies have 8. These important observations lead many Biologists to believe that chromosomes and genes are somehow related.
Obtain a sample of blood Add a chemical that breaks apart the cells

Figure 1. Chromosomes in a animal cell

Fix cells to a microscope slide Cut out individual chromosomes and arrange by size and banding pattern

Take a picture of the chromosomes

Figure 2. A chromosome smear

Figure 3. Preparation of a Karyotype

Mendels laws of inheritance (which states that we inherit two copies of every gene and each parent passes down one copy of a gene to their offspring) were well accepted by the scientific community at this time. However, Biologists could not explain why we inherit two copies of every gene. This problem is similar to the problem faced by Chemists who were studying the behavior of gases at this time. For example, the French chemist, Jacques Charles, discovered that the when the temperature of a gas is doubled, the volume of the gas also doubles. This relationship is now known as Charles law. Although this law is useful for predicting what will happen to a gas when it is heated, it does not explain why it happens. In fact, scientists could not explain Charles law until the molecular kinetic theory of matter was developed a number of years after his death. Could the number and types of chromosomes found within the cells of an organism finally provide a way to explain Mendels Laws? In 1900, a young American graduate student named Walter Sutton decided to find out using a technique called Karyotyping (see Figure 3).

In Karyotyping, the chromosomes in a cell are stained with a dye to make the bands of each chromosome visible. When stained, chromosomes have a unique banding pattern which provides scientists a way to tell them apart. The chromosomes are then photographed through a microscope. The first karyotypes were conducted on adult females, so in 1903 Sutton used this new technique to study the chromosomes of males and individuals who were born with birth defects or genetic diseases in an effort to understand more about the relationship between genes and chromosomes. His work with karyotypes supplied the evidence he needed to support his chromosomal theory of inheritance. In this lab activity, you will create a several karyotypes and then determine if there is a relationship between chromosomes and genetic disorders. Your Task: Mr. and Mrs. Rodriquez have been married for 15 years. They have two children. Unfortunately both children were born with a genetic disorder. Their first child was born with Cri-du-chat syndrome and their second child was born with Down syndrome. Although Mr. and Mrs. Rodriquez were in their early forties when they had their first child, both of them were in excellent health. They also have no relatives with either of these two syndromes. These observations led doctors to wonder: How do two normal parents produce a child with Cri-Du-chat syndrome and Down syndrome? Here are two explanations that have been proposed by the doctors: 1. Cri-Du-Chat and Down syndrome are both recessive genetic disorders. Mr. and Mrs. Rodriquez each carried a recessive allele for these syndromes that they passed down to their children. 2. Cri-Du-Chat and Down syndrome are both caused by a chromosomal abnormality. Either the sperm cell from Mr. Rodriquez or the egg from Mrs. Rodriquez had a damaged, missing, or additional chromosome. You goal in this investigation is to determine which one of these explanations is most valid or acceptable. The guiding question for this investigation is: How do two normal parents produce a child with Cri-Duchat syndrome and Down syndrome? Materials: You may use any of the following materials during your investigation. Scissors A chromosome smear from child #1 (born with Cri-Du-Chat) Glue A chromosome smear from child #2 (born Information on the syndromes with Down syndrome) A karyotype from Mrs. Rodriquez 3 Karyotype Placement Grid A Chromosome smear from Mr. Rodriquez Safety Precautions: Use caution and good judgment when handling sharp objects (scissors, etc.) Getting Started: Unlike diseases that are transmitted from person to person, such as the flu or strep throat, Cri-Du-Chat and Down syndromes are inherited so they have a genetic basis. Therefore, if the chromosomes of people with these syndromes are somehow different that people without these diseases, then it would suggest that a chromosomal abnormality is the underlying cause. In order to create a Karyotype for Mr. Rodriquez and the two children, you will need to actually cut out each chromosome from the photograph, sort the images according to length, pair any matching sets of chromosomes, and then paste them onto a grid. The final product is a Karyotype (a picture of an individuals chromosomes). A Karyotype from Mrs. Rodriquez (a normal female) can be found below (see Figure 4).

Figure 4. A Karyotype from Mrs. Rodriquez.

Argumentation Session: Once your group has completed your work, prepare a whiteboard that you can use to share and justify your ideas. Your whiteboard should include all the information shown Figure 5. To share your work with others, we will be using a RoundRobin format. This means that one member of the group will stay at your work station to share your groups ideas while the other group members will go to the other group one at a time in order to listen to and critique the explanations developed by your classmates.

The Research Question: Our Claim: Our Evidence: Our Rationale:

Figure 5. Information needed on a Whiteboard

Remember, as you critique the work of others, you have to decide if their claim is valid or acceptable based on how well they are able to support their ideas. In other words, you need to determine if their argument is persuasive and convincing. To do this, ask yourself the following questions: Is their claim sufficient (it answers the research question) and coherent (it is free from contradictions)? Did they use genuine evidence (data that has been collected, analyzed, and interpreted by the researchers) to support their claim? Did they use enough evidence to justify their ideas? Is their evidence of high quality? In other words, is their evidence valid (they used appropriate methods to gather and analyze their the data) and reliable (they attempted to reduce error in their measurements or observations)? Is there any counterevidence that does not support their claim? How well does their claim fit with other theories and laws that are used in science to explain or describe how the world works? Is their reasoning adequate (they explain why the included their evidence and why their evidence supports their claim) and appropriate (rational and sound)?

Once the argumentation session is complete, you will have a chance to meet with your group and revise your original argument. Your group might need to gather more data or design a way to test one or more alternative claims as part of this process. Remember, your goal is to develop the most valid or acceptable answer to the research question at this stage of the your investigation! Report: Once you have completed your research, you will need to prepare an investigation report that consists of three sections. Each section should provide an answer for the following questions: 1. What were you trying to do and why? 2. What did you do during your investigation and why did you conduct your investigation in this way? 3. What is your argument? Your report should answer these questions in 2 pages or less. This report must be typed and any diagrams, figures, or tables should be embedded into the document. Be sure to write in a persuasive style; you are trying to convince others that your claim is acceptable or valid!

Checkout Questions 1. How many chromosomes does a human have? ______________ 2. All humans have the same number of chromosomes. Explain your answer. Yes No

3. In your investigation, you were provided with chromosomes smears from three different people and you then created a karyotype for each individual. Would this be considered an example of an experiment in science? Explain your answer.

Yes No

4. Often times, scientific investigation is built on existing knowledge. Keeping this in mind, explain the relationship of Suttons work (in the 1900s) and Mendels work (in the 1860s).