In this activity students are faced with two patients who exhibit MELAS (Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) type symptoms and must examine their family history and mitochondrial DNA samples to improve the diagnosis. Synthetic pre-digested DNA is included, so students can focus on analysis in this activity.
The lab consists of two essential activities: pedigree construction from patient case histories, and molecular analysis of a point mutation in the mitochondrial genome.
This activity was jointly created by PASCO, the Carnegie Institution for Science, GENA, the Smithsonian Institute, and the University of Alabama and the product developed in partnership with Edvotek.
QuickStrip™ DNA samples contain: Standard DNA Marker, 40 uL and DNA Samples, 40 uL each. Note: This activity requires an electrophoresis setup which is NOT included.
- QuickStrip™ DNA samples (6)
- UltraSpec-Agarose™ powder, 3.0 g
- Electrophoresis Buffer (50x), 60 mL
- InstaStain™ Blue Card (6)
- Graduated Transfer Pipet
- Transfer Pipet (10)
How It Works
Students will gain experience conducting the following procedures:
- Analyzing the products of a restriction digest by gel electrophoresis to detect a point mutation in the mitochondrial genome
- Constructing pedigrees from patient family histories to determine the pattern of inheritance of a genetic disease
- Gathering evidence from both the molecular diagnosis and pedigree construction to confirm the diagnosis of a genetic disease