Showing 1-4 of 4 Resources
Scientists at Work(8 min 54 sec) How do you identify the disease-causing mutation in a patient with an inherited disease? This video illustrates the steps involved—testing for genes that are the “usual suspects,” searching for mutations in novel genes, and assessing links between genotype and phenotype.
Data PointA team of scientists built a pedigree of a large extended family in Antioquia, Colombia, that has a high prevalence of early-onset familial Alzheimer’s disease due to a mutation in the PSEN1 gene. Worksheets also available in Spanish.
Data PointA team of scientists used homozygosity mapping to map SNPs on chromosome 3 in a family with an autistic son to identify a likely gene that caused the disorder.
Narrow your choices by selecting areas below.