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Author Topic:   nonsence or frameshift mutation-detection
maria roque
posted 06-03-2003 02:39 PM     Click Here to See the Profile for maria roque   Click Here to Email maria roque     Edit/Delete Message Reply w/Quote
I am trying to check the presence of stopcodons in cancer-related genes in families with hereditary cancers. We are thinking in making a plasmid with color reporter genes to transform bacterias.
Does anyone have experience in this?



posted 08-22-2003 07:01 PM     Click Here to See the Profile for Jonathan_Liu   Click Here to Email Jonathan_Liu     Edit/Delete Message Reply w/Quote
We suggest use the DNA sequence method, the golden standard for mutation discovery and mutation diagnostics.

We have software tool, Mutation Surveyor, to find such kind of mutations with DNA sequence traces. In our report, the stop codon and frame shifts (homozygous and heterozygous insertion and deletion) are specially designed for this study.

If you are interested, please response to this email and I will send you a CD of software. You may visit our web at www.softgenetics.com to down load software as well.

ChangSheng Jonathan Liu, Ph.D.
SoftGenetics LLC.
697 Tanager Dr.
State College, PA 16803, USA
Phone: 814-777-2322
email: softgenetics@yahoo.com www.softgenetics.com


posted 09-10-2003 10:49 AM     Click Here to See the Profile for jkennedy   Click Here to Email jkennedy     Edit/Delete Message Reply w/Quote
To detect stop codons specifically, the PTT (Protein Truncation Test) will probably be the quickest and most specific for this type of mutation. It is used widely in molecular diagnostic labs, but is being superseded by direct DNA sequencing which will, of course, detect the majority of sequence changes.


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