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LESSON 4:
Understanding Genetic Tests to Detect BRCA1 Mutations
PowerPoint slides to accompany
Using Bioinformatics:
Genetic Testing
Chowning, J., Kovarik, D., Grisworld, J., Porter, S., Spitze, J., Farris, C., and K. Petersen. Using Bioinformatics:
Genetic Testing . Published Online April 2012. figshare. http://dx.doi.org/10.6084/m9.figshare.936566
LABORATORY TECHNICIAN
ZANE KRAFT, MS
Place of Employment:
Seattle Biomedical Research Institute
Type of Work:
HIV Vaccine Research
“We do a lot of DNA alignments of HIV Envelope sequences.
Another fun thing that we now do more of is computer modeling
of HIV Envelope proteins with different mutations.”
Inside the Gene Machine:
How Information from DNA is Acquired and Used for Genetic Testing
Genetic Counselors work with patients
to help them decide whether to have a
genetic test, and help them understand
the results of the test.
Patient Sample: Blood
or Saliva
Lab Technicians work with patient
samples in the lab, purifying and
sequencing the DNA.
Extract DNA from Cells
Computational Biologists create
computer programs to help biologists
analyze data.
Sequence DNA
…TTCACCAACAGGCCCACA…
Compare Patient
DNA Sequence to
Reference Sequence
Search Database to
Determine whether
Patient Mutation is
Associated
with Disease
Reference …TTCACCAACATGCCCACA…
F T N M P T
Patient
…TTCACCAACAGGCCCACA…
F T N R P T
Biomedical Researchers perform
experiments with patient samples to
find different variations of genes that
might cause disease.
Bioengineers help create tools and
treatments for patients with various
diseases. Medical Doctors and
Veterinarians use the knowledge gained
from genetic testing to care for their
patients.
The BRCA1 Gene
ATGGATTTATCTGCTCTTCGCGTTGAAGAAGTACAAAATGTCATTAATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACAT ATTTTGCAAATTTTGCATGCTGAAACTTCTCAACCA
GAAGAAAGGGCCTTCACAGTGTCCTTTATGTAAGAATGATATAACCAAAAGGAGCCTACAAGAAAGTACGAGATTTAGTCAACTTGTTGAAGAGCTATTGAAAATCATTTGTGCTTTTCAGCTTG ACACAGGTTTGGAGTATGCAAACAGCTATAATTTTG
CAAAAAAGGAAAATAACTCTCCTGAACATCTAAAAGATGAAGTTTCTATCATCCAAAGTATGGGCTACAGAAACCGTGCCAAAAGACTTCTACAGAGTGAACCCGAAAATCCTTCCTTGCAGGAA ACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACT
GTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAGACGTCTGTCTACATTGAATTGGGATCTGATTCTTCTGAAGATACCGTTAATAAGGCAACTTATTGCAGTGTGGGAGATCAAGA ATTGTTACAAATCACCCCTCAAGGAACCAGGGATGA
AATCAGTTTGGATTCTGCAAAAAAGGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGC ATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACT
TGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAAGGCTGAATTCTGTAATAAAAGCAAACAG CCTGGCTTAGCAAGGAGCCAACATAACAGATGGGCT
GGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAAGGTAGATCTGAATGCTGATCCCCTGTGTGAGAGAAAAGAATGGAATAAGCAGAAACTGCCATGCTCAGAGAATCC TAGAGATACTGAAGATGTTCCTTGGATAACACTAAA
TAGCAGCATTCAGAAAGTTAATGAGTGGTTTTCCAGAAGTGATGAACTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGCCAAAGTAGCTGATGTATTGGACGTTCTAAATG AGGTAGATGAATATTCTGGTTCTTCAGAGAAAATAG
ACTTACTGGCCAGTGATCCTCATGAGGCTTTAATATGTAAAAGTGAAAGAGTTCACTCCAAATCAGTAGAGAGTAATATTGAAGACAAAATATTTGGGAAAACCTATCGGAAGAAGGCAAGCCTC CCCAACTTAAGCCATGTAACTGAAAATCTAATTATA
GGAGCATTTGTTACTGAGCCACAGATAATACAAGAGCGTCCCCTCACAAATAAATTAAAGCGTAAAAGGAGACCTACATCAGGCCTTCATCCTGAGGATTTTATCAAGAAAGCAGATTTGGCAGT TCAAAAGACTCCTGAAATGATAAATCAGGGAACTAA
CCAAACGGAGCAGAATGGTCAAGTGATGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTG CTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTA
TAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTCATGCGCTTGAACTAGTAGTCAGTAGAAATCTAAGC CCACCTAATTGTACTGAATTGCAAATTGATAGTTGT
TCTAGCAGTGAAGAGATAAAGAAAAAAAAGTACAACCAAATGCCAGTCAGGCACAGCAGAAACCTACAACTCATGGAAGGTAAAGAACCTGCAACTGGAGCCAAGAAGAGTAACAAGCCAAATGA ACAGACAAGTAAAAGACATGACAGCGATACTTTCCC
AGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCTAGCCTTCCAAGAGAAGAAAAAGAAGAGAAACTAGAAACAGTTAAAG TGTCTAATAATGCTGAAGACCCCAAAGATCTCATGT
TAAGTGGAGAAAGGGTTTTGCAAACTGAAAGATCTGTAGAGAGTAGCAGTATTTCATTGGTACCTGGTACTGATTATGGCACTCAGGAAAGTATCTCGTTACTGGAAGTTAGCACTCTAGGGAAG GCAAAAACAGAACCAAATAAATGTGTGAGTCAGTGT
GCAGCATTTGAAAACCCCAAGGGACTAATTCATGGTTGTTCCAAAGATAATAGAAATGACACAGAAGGCTTTAAGTATCCATTGGGACATGAAGTTAACCACAGTCGGGAAACAAGCATAGAAAT GGAAGAAAGTGAACTTGATGCTCAGTATTTGCAGAA
TACATTCAAGGTTTCAAAGCGCCAGTCATTTGCTCCGTTTTCAAATCCAGGAAATGCAGAAGAGGAATGTGCAACATTCTCTGCCCACTCTGGGTCCTTAAAGAAACAAAGTCCAAAAGTCACTT TTGAATGTGAACAAAAGGAAGAAAATCAAGGAAAGA
ATGAGTCTAATATCAAGCCTGTACAGACAGTTAATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGATAAGCCAGTTGATAATGCCAAATGTAGTATCAAAGGAGGCTCTAGGTTTTGTCTA TCATCTCAGTTCAGAGGCAACGAAACTGGACTCATT
ACTCCAAATAAACATGGACTTTTACAAAACCCATATCGTATACCACCACTTTTTCCCATCAAGTCATTTGTTAAAACTAAATGTAAGAAAAATCTGCTAGAGGAAAACTTTGAGGAACATTCAAT GTCACCTGAAAGAGAAATGGGAAATGAGAACATTCC
AAGTACAGTGAGCACAATTAGCCGTAATAACATTAGAGAAAATGTTTTTAAAGAAGCCAGCTCAAGCAATATTAATGAAGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAATAG GTTCCAGTGATGAAAACATTCAAGCAGAACTAGGTA
GAAACAGAGGGCCAAAATTGAATGCTATGCTTAGATTAGGGGTTTTGCAACCTGAGGTCTATAAACAAAGTCTTCCTGGAAGTAATTGTAAGCATCCTGAAATAAAAAAGCAAGAATATGAAGAA GTAGTTCAGACTGTTAATACAGATTTCTCTCCATAT
CTGATTTCAGATAACTTAGAACAGCCTATGGGAAGTAGTCATGCATCTCAGGTTTGTTCTGAGACACCTGATGACCTGTTAGATGATGGTGAAATAAAGGAAGATACTAGTTTTGCTGAAAATGA CATTAAGGAAAGTTCTGCTGTTTTTAGCAAAAGCGT
CCAGAAAGGAGAGCTTAGCAGGAGTCCTAGCCCTTTCACCCATACACATTTGGCTCAGGGTTACCGAAGAGGGGCCAAGAAATTAGAGTCCTCAGAAGAGAACTTATCTAGTGAGGATGAAGAGC TTCCCTGCTTCCAACACTTGTTATTTGGTAAAGTAA
ACAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCGAGTGTCTGTCTAAGAACACAGAGGAGAATTTATTATCATTGAAGAATAGCTTAAATGACTGCAGTAACCAGGTAATATTG GCAAAGGCATCTCAGGAACATCACCTTAGTGAGGAA
ACAAAATGTTCTGCTAGCTTGTTTTCTTCACAGTGCAGTGAATTGGAAGACTTGACTGCAAATACAAACACCCAGGATCCTTTCTTGATTGGTTCTTCCAAACAAATGAGGCATCAGTCTGAAAG CCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTC
AGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAG GGCTATCCTCTCAGAGTGACATTTTAACCACTCAGC
AGAGGGATACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAACAGCTACCCTTCCATCATAAGTGACTCTTCT GCCCTTGAGGACCTGCGAAATCCAGAACAAAGCACA
TCAGAAAAAGCAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAAGTTTGAGGTGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACC AGGAGTGGAAAGGTCATCCCCTTCTAAATGCCCATC
ATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCAC ACGATTTGACGGAAACATCTTACTTGCCAAGGCAAG
ATCTAGAGGGAACCCCTTACCTGGAATCTGGAATCAGCCTCTTCTCTGATGACCCTGAATCTGATCCTTCTGAAGACAGAGCCCCAGAGTCAGCTCGTGTTGGCAACATACCATCTTCAACCTCT GCATTGAAAGTTCCCCAATTGAAAGTTGCAGAATCT
GCCCAGAGTCCAGCTGCTGCTCATACTACTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACAAAAGAATGTCCAT GGTGGTGTCTGGCCTGACCCCAGAAGAATTTATGCT
CGTGTACAAGTTTGCCAGAAAACACCACATCACTTTAACTAATCTAATTACTGAAGAGACTACTCATGTTGTTATGAAAACAGATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAG GAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCT
GGGTGACCCAGTCTATTAAAGAAAGAAAAATGCTGAATGAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAG ATCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCC
TTCACCAACATGCCCACAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGGTGTCCACCCAATTGTGGTTGTGCAGCCAGA TGCCTGGACAGAGGACAATGGCTTCCATGCAATTGG
GCAGATGTGTGAGGCACCTGTGGTGACCCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATACCCCAGATCCCCCACAGCCACTACTGA
http://research.nhgri.nih.gov/projects/bic/Member/brca1_mutation_database.shtml
LABORATORY TECHNICIAN
ZANE KRAFT, MS
Place of Employment:
Seattle Biomedical Research Institute
Type of Work:
HIV Vaccine Research
“We do a lot of DNA alignments of HIV Envelope sequences.
Another fun thing that we now do more of is computer modeling
of HIV Envelope proteins with different mutations.”
CAREERS IN SPOTLIGHT:
LABORATORY TECHNICIAN
What do they do?
Laboratory technicians, sometimes called “lab techs” or research
technicians, do much of the day-to-day work in the lab, including purifying
and sequencing DNA, caring for laboratory machinery, and analyzing
samples.
What kind of training is involved?
Some laboratory technicians have a two year Associate’s degree or a
four year Bachelor’s degree. Some, like Zane Kraft, also have a Master’s
degree (additional two year training).
What is a typical salary for a Laboratory Technician?
Ranges with experience from $30,000/year ($14/hour) up to $60,000/year
($29/hour) or more.
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