Identifying Autism Genes by Tracking Gene Mutations
This activity guides the analysis of a published scientific figure from a study that used SNP genotyping to identify genes involved in autism.
In this study, scientists collected data from a family with an autistic son to locate genes that may contribute to autism. The scientists used a genotyping technique called homozygosity mapping to find mutations associated with recessive genetic disorders. The figure shows a pedigree for the family (left) and SNP genotyping results for each family member on chromosome 3 (right). Red and blue vertical stripes indicate homozygous SNPs, yellow stripes represent heterozygous SNPs, and white gaps represent genetic deletions. 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.
- Describe how genotyping techniques can be used to identify genes associated with certain traits.
gene deletion, gene map, heterozygosity, homozygosity, microarray, pedigree chart, recessive trait, single nucleotide polymorphism (SNP), SNP genotyping
Morrow, Eric M., Seung-Yun Yoo, Steven W. Flavell, Tae-Kyung Kim, Yingxi Lin, Robert Sean Hill, Nahit M. Mukaddes, et al. “Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry.” Science 321, 5886 (2008): 218–223. https://doi.org/10.1126/science.1157657.
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HS-LS3-1; SEP2, SEP4, SEP5
IST-1.I, IST-2.E, SYI-3.C; SP1, SP2
Math.S-ID.3, Math.S-IC.1; MP2, MP5
CC3; DP2, DP3