Genetics Lab
Genetics Lab
10/31/2018 Genetics Lab GENETICS LAB Scenario Two – Our patient seeks genetic counseling Emily, a forty
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year old pregnant woman has an amniocentesis which provides the karyotype below. Using the karyotype above answer the following questions: What is the gender of the fetus? Male Are there any chromosomal abnormalities? yes What would this chromosomal combination result in? Down Syndrome GO TO CHART Licensed under a Creative Commons Attribution 3.0 License. http://media.capella.edu/CourseMedia/BIO-FP1000/GeneticsLab/bio1000wrapper.asp 1/1 10/31/2018 Genetics Lab GENETICS LAB Scenario One – Our patient seeks genetic counseling Kayla has a family history of Duchenne muscular dystrophy (DMD), which is a sex-linked trait. The patient wishes to know her risk of having an a ected child. Her grandmother was a known carrier. DMD is an inherited disorder that involves progressive muscle weakness. It a ects approximately 1 in 3500 male births worldwide and is inherited in an X-linked recessive pattern. Click here to learn more about DMD The following pedigree was drawn up by the genetic counselor. Our patient, Kayla, is #13. What are the relationships between: 1 and 2 Female carrier and Male not affected, ca 1 and 5 Female carrier and Male affected 1 and 10 Female carrier and Male not affected, ca 6 and 7 Female not affected, carrier status unkno 4 and 5 Female not affected, carrier status unkno 5 and 8 Male affected and Male affected 8 and 10 Male affected and Male not affected, carr 1 and 3 Female carrier and Male not affected, ca 50 What are the chances her mother was a carrier? What are the chances our patient is a carrier? 50 What are the chances she passes the syndrome to a male child? 100 Testing would establish her status as either a carrier or a noncarrier. If she is a carrier what are the chance of her having an affected child? If h i t i h t th h fh h i ff http://media.capella.edu/CourseMedia/BIO-FP1000/GeneticsLab/bio1000wrapper.asp 50 t d hild? 1 i 3500 1/2 10/31/2018 Genetics Lab If she is not a carrier what are the chance of her having an affected child? 1 in 3500 GO TO CHART Licensed under a Creative Commons Attribution 3.0 License. http://media.capella.edu/CourseMedia/BIO-FP1000/GeneticsLab/bio1000wrapper.asp 2/2 10/31/2018 Genetics Lab GENETICS LAB Patient Chart Please use the below chart for navigation to the tests. Once they are all completed, an “assessment” area will appear below the chart. You will need to ll it out and download the PDF to upload into the course for your assignment. Kayla Emily Scenario 1 – Pedigree Analysis view test Scenario 2 – Karyotype view test Relationship between 1 and 2 Female carrier and Male not affected, carrier status unknown Gender of Fetus Male Relationship between 1 and 5 Female carrier and Male affected Chromosomal Abnormalites yes Chromosomal Combination Result Down Syndrome Relationship between 1 and 10 Relationship between 6 and 7 Relationship between 4 and 5 Relationship between 5 and 8 Relationship between 8 and 10 Relationship between 1 and 3 Female carrier and Male not affected, carrier status unknown Female not affected, carrier status unknown and Male not affected, carrier status unknown Female not affected, carrier status unknown and Male affected Male affected and Male affected Male affected and Male not affected, carrier status unknown Female carrier and Male not affected, carrier status unknown Chances mother is a carrier 50 Chances Kayla is a carrier 50 Chances Kayla passes the syndrome to male child 100 If Kayla is a carrier, what are chances of having an affected child? 50 If Kayla is not a carrier, what are chances of having an affected child? 1 in 3500 Assessment 1 How did you determine the chances that Kayla’s mother is a carrier and the chances that Kayla is a carrier? http://media.capella.edu/CourseMedia/BIO-FP1000/GeneticsLab/bio1000wrapper.asp 1/3 10/31/2018 Genetics Lab 1. How did you determine the chances that Kayla s mother is a carrier and the chances that Kayla is a carrier? Type your answer here… 2. How did you determine the chances that Kayla could pass the syndrome to a male child? Type your answer here… 3. How did you determine the chances Kayla could have an a ected child if she is a carrier? Type your answer here… 4. How did you determine the chances Kayla could have an a ected child if she is not a carrier? Type your answer here… 5. Based on the results of the pedigree, what information might a genetic counselor provide to Kayla? Type your answer here… 6. Which part of the karyotype helped you to determine the gender of Emily’s child? Type your answer here… 7. Which part of the karyotype helped you to determine if there are chromosomal abnormalities? Type your answer here… 8. How does the disorder that results from the chromosomal abnormalities a ect body systems? http://media.capella.edu/CourseMedia/BIO-FP1000/GeneticsLab/bio1000wrapper.asp 2/3 10/31/2018 Genetics Lab Type your answer here… 9. Based on the results of the karyotype, what information might a genetic counselor provide to Emily? Type your answer here… Licensed under a Creative Commons Attribution 3.0 License. Download PDF http://media.capella.edu/CourseMedia/BIO-FP1000/GeneticsLab/bio1000wrapper.asp 3/3 10/31/2018 Genetics Lab Scoring Guide Genetics Lab Scoring Guide CRITERIA NONPERFORMANCE Discuss how a disorder that results from chromosomal abnormalities affects body systems. BASIC PROFICIENT DISTINGUISHED Does not describe a disorder that results from the chromosomal abnormalities. Describes a disorder that results from the chromosomal abnormalities. Discusses how a disorder that results from the chromosomal abnormalities affects body systems. Discusses a disorder that results from abnormal chromosomes and the impact it could have on the individual who inherits the condition. Calculate the chances of a patient’s mother being a carrier of a specific syndrome. Does not suggest the chances of a patient’s mother being a carrier of a specific syndrome. Suggests that a patient’s mother may or may not be a carrier of a specific syndrome, but does not supply a calculation to support the suggestion. Calculates the chances of a patient’s mother being a carrier of a specific syndrome. Calculates the chances of a patient’s mother being a carrier of a specific syndrome, with specific details of the genetic theory behind the calculation. Explain the chances of a child inheriting a specific syndrome if the patient is a carrier. Does not identify whether the patient could be a carrier of a specific syndrome. Identifies that the patient could be a carrier of a specific syndrome, but does not explain the chances of the child having the specific syndrome. Explains the chances of a child inheriting a specific syndrome if the patient is a carrier. Determines the chances of a child inheriting a specific syndrome if the patient is a carrier, based on an indepth analysis of the pedigree. Explain the chances of a child inheriting a specific syndrome if the patient is not a carrier. Does not identify that the patient might not be a carrier of a specific syndrome. Identifies that the patient might not be carrier of a specific syndrome, but does not explain the chances of the child having the specific syndrome. Explains the chances of a child inheriting a specific syndrome if the patient is not a carrier. Determines the chances of a child inheriting a specific syndrome, even if the patient is not a carrier, based on an in-depth analysis of the pedigree. Explain the chances of a patient passing a specific syndrome to a male child. Does not identify that the patient can pass a specific syndrome to a male child. Identifies that the patient can pass a specific syndrome to a male child, but does not explain why. Explains the chances of the patient passing a specific syndrome to a male child. Analyzes the chances of the patient passing a specific syndrome to a male child, citing appropriate scientific sources. Explain the gender of the second patient in a lab scenario. Does not state the gender of the second patient in a lab scenario. States the gender of the second patient in a lab scenario, but does not explain how this conclusion was made. Explains the gender of the second patient in a lab scenario. Explains the gender of the second patient in a lab scenario, citing appropriate scientific sources. Explain the results of a karyotype. Does not list the results of a karyotype. Lists the results of a karyotype. Explains the results of a karyotype. Discusses the results of a karyotype and how a genetic counselor would explain the results to the patient. https://courserooma.capella.edu/bbcswebdav/institution/BIO-FP/BIO-FP1000/150701/Scoring_Guides/u04a1_scoring_guide.html 1/1
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