Evaluate the usefulness of each of the following genotyping techniques for detecting genetic variations for
Hypertrophic Cardiomyopathy.
1. Evaluate each technique (use your notes to help you decide which technique is suitable). Place a yes or no in the cell
beneath the method if it works to test the genetic variation(s) in the row.
2. Then, consider the material cost (i.e., not including labor or equipment), and select the most cost-effective technique for
each variation and compute the estimated cost for this method.
o PCR & gel electrophoresis = About $1 per reaction and $2 per gel which can be used to analyze as many as 20
reactions
o DNA sequencing ($10 to sequence 1000bp containing codon 453; $220 to sequence the entire MHY7 gene)
o SNP Chip: $300
o Whole genome sequencing: $5000 (2013) https://www.genome.gov/sequencingcosts/
Table 2:
Variation
MHY7 SNP (CGC to
TGC mutation at
position 453)
A 150 nucleotide
deletion in the
MYH7 coding
sequence
All 80 SNPs in the
MYH7 gene
Variations in all 18
genes in HCM
patients (80
variants for each)
PCR followed by
Sequencing of Whole genome
SNP chip
Gel Electrophoresis a single gene DNA Sequencing
No, both pieces are
Yes
Yes
Yes
the same size
Cost ($10)
Cost ($5000)
Cost ($300)
Yes, one piece is
larger
Cost ($1.10)
Yes
Cost ($10)
Yes
Cost ($5000)
No
No
Yes
Cost ($220)
Yes
Cost ($220 x
18 = $3960)
Yes
Cost ($5000)
Yes
Cost ($5000)
Yes
Cost ($300)
Yes
Cost ($300)
No
Write the estimated cost of the
most cost-effective method
$10
Sequencing of the single gene
$1.10
PCR followed by gel
electrophoresis
$220
Sequencing of a single gene
$300
SNP chip if it contains all 1440
variations (18 x 80)