Skip to main content
Toggle User Menu

HHMI BioInteractive

  • Español
  • Search
  • Log In/Create Account
  • Classroom Resources
  • Planning Tools
  • Professional Development
  • About Us

Inheritance and Mutations in a Single-Gene Disorder

Screenshot of a portion of a genealogy diagram
Topic
  • Biochemistry & Molecular Biology
  • Biotechnology
  • Genetics
  • Patterns of Inheritance
  • Genetic Disease
Resource Type
  • Activities
  • Lessons
Level
High School — GeneralHigh School — AP/IBCollege
Favorited By
41 Users
Share This
Description

This activity builds on information presented in the short film Genes as Medicine. Students interpret actual pedigrees to determine the inheritance pattern of Leber congenital amaurosis (LCA), an inherited form of blindness. They also examine protein sequence data to explore mutations that can cause LCA.

LCA is a disease that primarily affects the retina. Scientists have identified several types of LCA with different genetic causes and patterns of vision loss. In this three-part activity, students examine a form of LCA caused by mutations in the gene RPE65. 

The activity reinforces the connection between genotype and phenotype and illustrates that genes can have multiple alleles, including multiple disease-causing alleles. In the first part of the activity, students analyze several pedigrees of families with members who have LCA. The pedigrees were obtained from a published scientific study. In the second part, students explore mutations in the RPE65 protein in individuals with LCA and discover that some individuals (known as compound heterozygotes) carry two different disease-causing alleles. In the last part of the activity, students reflect on how LCA can be treated using gene therapy.

The “Resource Google Folder” link directs to a Google Drive folder of resource documents in the Google Docs format. Not all downloadable documents for the resource may be available in this format. The Google Drive folder is set as “View Only”; to save a copy of a document in this folder to your Google Drive, open that document, then select File → “Make a copy.” These documents can be copied, modified, and distributed online following the Terms of Use listed in the “Details” section below, including crediting BioInteractive.

Student Learning Targets
  • Describe the relationship between genotype and phenotype.
  • Use a pedigree to infer genotypes and determine the most likely inheritance pattern of a single-gene trait.
  • Analyze amino acid sequence data to identify mutations.
     
Details
Estimated Time
One 50-minute class period if the film is watched outside of class. Two 50-minute class periods may be needed to watch the film in class and/or review basic genetics concepts.
Key Terms

allele, compound heterozygote, gene sequencing, gene therapy, genotype, Leber congenital amaurosis (LCA), pedigree chart, phenotype

Primary Literature

Morimura, Hiroyuki, Gerald A. Fishman, Sandeep A. Grover, Anne B. Fulton, Eliot L. Berson, and Thaddeus P. Dryja. “Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis.” Proceedings of the National Academy of Sciences 95, 6 (1998): 3088–3093. https://doi.org/10.1073/pnas.95.6.3088. 

Li, Yumei, Hui Wang, Jianlan Peng, Richard A. Gibbs, Richard Alan Lewis, James R. Lupski, Graeme Mardon, and Rui Chen. “Mutation survey of known LCA genes and loci in the Saudi Arabian population.” Investigative Ophthalmology and Visual Science 50, 3 (2008): 1336–1343. https://doi.org/10.1167/iovs.08-2589. 

Russell, Stephen, Jean Bennett, Jennifer A. Wellman, Daniel C. Chung, Zi-Fan Yu, Amy Tillman, Janet Wittes, et al. “Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: A randomised, controlled, open-label, phase 3 trial.” The Lancet 390, 10097 (2017): 849–860. https://doi.org/10.1016/s0140-6736(17)31868-8.
 

Terms of Use

The resource is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International license. No rights are granted to use HHMI’s or BioInteractive’s names or logos independent from this Resource or in any derivative works.

Accessibility Level

The documents for this resource meet accessibility standards in accordance with the final rule for Section 508 of the National Rehabilitation Act.
Version History
Date Published 09.26.19
Date Updated 04.29.20
Curriculum Connections
NGSS (2013)

HS-LS1-1, HS-LS3-1; SEP2, SEP6

AP Biology (2019)

IST-1.I, IST-1.N, IST-1.P, IST-2.E, IST-4.A, SYI-3.C; SP1, SP2, SP6

IB Biology (2016)

3.1, 3.4, B.4

Common Core (2010)

ELA.RST.9–12.4, ELA.RST.9-12.7
Math.S-IC.2; MP2, MP4
 

Vision and Change (2009)

CC3; DP3

Materials
Resource Google Folder (link)
Educator Materials (PDF) 694 KB
Student Handout (PDF) 549 KB
Use This Resource With
Video Resource
Genes as Medicine

Explore Related Content

Other Related Resources
Showing of
Short Films
Genes as Medicine
Film Activities
Activity for Genes as Medicine
Virtual Labs
Cardiology Virtual Lab
Lessons
Analyzing Pedigrees
Data Points
Origin of a Gene Mutation Causing Early-Onset Alzheimer’s Disease
Short Films
The Making of the Fittest: Natural Selection in Humans
Film Activities
Activity for Natural Selection in Humans
Lessons
Sickle Cell Disease and Malaria: A Lesson on the Nature of Science
Illustration of chromosomes with bands representing genes
Interactive Videos
Interactive Case Study for The Search for a Mutated Gene
Scientists at Work
The Search for a Mutated Gene

HHMI BioInteractive

  • Facebook
  • Instagram
  • Twitter
  • YouTube
  • Newsletter Signup
  • HHMI.org
  • Terms of Use
  • Privacy Policy