A new laboratory method improves the accuracy
of current genetic diagnostic tests for colon cancer by detecting
defective genes otherwise "masked" when one copy of the gene
in question is normal. The technique may also be used to enhance
the accuracy of diagnostic tests for a wide range of inherited
diseases, including other forms of cancer and neurological disorders.
Humans carry two copies of each gene, one of which is inherited
from the mother and one from the father. One of the weaknesses
of genetic testing is that a normal gene can mask the presence
of the defective or missing gene. In instances where masking
occurs, the diagnostic tests will either not detect the genetic
defect or will prove far less sensitive to it.
"We have overcome the problem of the normal allele masking the
mutant allele by simply separating the alleles and analyzing
them independently," explained Bert Vogelstein, a Howard Hughes
Medical Institute investigator at The Johns Hopkins University
Oncology Center. In technical terms, the technique involves conversion
of the cells' paired-chromosome state of "diploidy" to a single
chromosome state of "haploidy," said Vogelstein.
Ann's NOTE: Hopefully this will resolve the (former) confusion of results.
Study shows diagnoses at
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