Researching Genetic Disorders Using BLAST

Overview & Concepts

How can we identify genes associated with human genetic disorders using online biological databases?  Students will be given the nucleotide sequence that links with a human genetic disorder. They will then use NCBI’s Basic Local Alignment Search Tool (BLAST) to determine the location of the mutation that causes the disorder.  Other web resources help students determine the characteristics, tests for, treatments, and prevention of the disorder.  This straightforward lesson provides high school students hands-on access to powerful bioinformatics tools.

The lesson is adapted from Nancy Lee, Briarcliff High School, Summer Research Program for Science Teachers August 2006 and Wefer, S. H. 2003. Name that gene: An authentic classroom activity incorporating bioinformatics in The American Biology Teacher 65:8 610–613.

Grade Level: 

Concepts Covered: 

BLAST, genetics, genes, autosomal, chromosomes, dominant and recessive, genetic disorder, sex linked , inheritance, mutation

Prior Knowledge Required: 

Students should already have a firm understanding of genes, DNA structure and function, alleles, mutations and sex-linked traits. Prior knowledge about BLAST is necessary before this activity or you will need to take some time to explain how to use this site and what it can be useful for.

Activity Notes

Days to Teach: 

2-4 50 minute periods

Materials: 

  • Genetic Disorder Student Worksheet
  • Nucleotide BLAST Sequence Cards (unknown) for the disorders
  • Computers

 

Teaching Tips / Activity Overview: 

Introduction:  Genetic disease- What do you know?

  1. Have students write at least 3 things they know about genetic diseases.  Allow students to share their answers and conduct a brief class discussion.
  2. Briefly review genes and mutations.  Explain how mutations cause genetic disease. Provide a brief overview of genetic disease, some quick explanations of various diseases.
  3. You can also show a short video clip on genetic disease.  See the Extensions section.

Identifying disease genes activity:

  1. Group students as you wish.  They can work in pairs or in small groups.
  2. Hand out student instruction sheet and demo on board how to use genetic information (genes-DNA) to link to a specific genetic disease
  3. Give students their nucleotide BLAST sequence cards to use to determine the name of their genetic disorder.
  4. Students will navigate various websites to find information asked on the student hand out.
  5.  Share what each group has learned:
  6. After all students are finished, call the group together and have students share what they learned about the diseases.
  7. Alternatively, each group could prepare a short formal 3-4 minute Prezi or Powerpoint presentation on the disease and its manifestation.  Or students can design an informative brochure about their genetic disorder.

Teaching Strategies:

  • Students should work with partner so they are not overwhelmed by the information.
  • Constant circulation and assistance will be needed, especially for the students’ first BLAST.
  • Depending on your level of students, it might be helpful to do a review of different types of inheritance.

Assessment: 

The complete packet will be evaluated. Oral questioning will also provide insight into the understanding of the students.

If students do a presentation or brochure, students will be graded on their finished product according to the rubric they were given (attached to student handout).

Extensions: 

  • Assign an additional topic or ask additional questions about the disorder depending on the level of students
    • Is the mutation a deletion, substitution, frame shift, etc.?
    • Use BLAST tool to further analyze the DNA sequence and make comparisons.
  • Show “99 Balloons,” about a baby with Trisomy 18: http://www.youtube.com/watch?v=th6Njr-qkq0.

Resources: 

Acknowledgements: 

This lesson was compiled from lessons created by Jessica Feerar, Amanda Wolfgang, Ronita Weaver, Rachel Stern, and Beth Sholder.  The lesson is adapted from Nancy Lee, Briarcliff High School, Summer Research Program for Science Teachers August 2006 and Wefer, S. H. 2003. Name that gene: An authentic classroom activity incorporating bioinformatics in The American Biology Teacher 65:8 610–613.

Academic Standards
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