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Origin of a Gene Mutation Causing Early-Onset Alzheimer’s Disease

Image from the activity

Topic

  • Genetics
  • Patterns of Inheritance
  • Genetic Disease
  • Math & Computational Skills
  • Graph Interpretation

Resource Type

  • Activities
  • Data Points

Level

High School — GeneralHigh School — AP/IBCollege
Saved By
23 Users
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Description

This activity analyzes a published scientific figure from a study of a family that has a high prevalence of Alzheimer’s disease.

A rare form of familial Alzheimer’s disease, which is caused by a mutation in the presenilin-1 gene (PSEN1), is highly prevalent in some parts of Antioquia, Colombia. To understand the origin of this mutation in these populations, scientists studied the family histories and DNA sequences of people affected by the disease. The figure is a pedigree of a large extended family with a high prevalence of Alzheimer’s. Black circles (female) and black squares (male) indicate individuals affected by the disease. Half-shaded shapes indicate individuals with an uncertain disease status. White shapes indicate unaffected individuals. Shapes with a line through them indicate that the family member is deceased. The “Educator Materials” document includes a captioned figure, background information, graph interpretation, and discussion questions. The “Student Handout” includes a captioned figure and background information.

 

Student Learning Targets

  • Analyze and interpret data from a scientific figure. 
  • Interpret a pedigree chart showing an example of autosomal dominant inheritance.
     

Estimated Time

Within one 50-minute class period.

Key Terms

ancestry, autosomal dominance, genealogy, pedigree chart, presenilin-1 (PSEN1)

Primary Literature

Lalli, Matthew A., Hannah C. Cox, Mary L. Arcila, Liliana Cadavid, Sonia Moreno, Gloria Garcia, Lucia Madrigal, et al. ”Origin of the PSEN1 E280A Mutation Causing Early-Onset Alzheimer’s Disease.” Alzheimers Dement 10, 0 (2014): S277–S283.e10. https://doi.org/10.1016/j.jalz.2013.09.005.

Terms of Use

Please see the Terms of Use for information on how this resource can be used.

Accessibility Level (WCAG compliance)

PDF files meet criteria.

Version History

Date Published 05.27.16
Date Updated 05.27.16

NGSS (2013)

HS-LS3-3; SEP2, SEP4, SEP5

AP Biology (2019)

IST-1.I, IST-1.J; SP1, SP4

IB Biology (2016)

3.4

AP Environmental Science (2013)

III.B

Common Core (2010)

ELA.RST.9-12.7
Math.S-ID.3, Math.S-IC.1; MP2, MP5

Vision and Change (2009)

CC1, CC3; DP2, DP3

Materials

Image (JPG) 98 KB
Educator Materials (PDF) 1 MB
Student Handout (PDF) 910 KB
Educator Materials - Español (PDF) 921 KB
Student Handout - Español (PDF) 712 KB

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