Digital PCR applications are non-invasive, costing only $5-6
Release date: 2015-01-13
Early diagnosis and treatment are essential for improving 22q11-related chromosomal microdeletion syndrome and Wilson's disease, two genetic diseases. Recently, the American molecular diagnostic journal "Clinical Chemistry" used the more accurate digital PCR technology for the first time to detect 22q11 microdeletions in newborns. In addition, a technique called cSMART can diagnose Wilson's disease in the fetus to determine The fetus is not at risk of miscarriage.
ddPCR detection of chromosomal microdeletions
22q11 microdeletion syndrome is the most common chromosomal deletion and birth defect problem, leading to a range of health problems ranging from cardiac defects to behavioral disorders. There are foreign laws that test the 22q11 microdeletion syndrome before birth so that the sick baby can be diagnosed and treated immediately after birth. The current method of diagnosis of this disease is costly and it is not possible to screen all newborns.
For the first time, a team led by Dr. Flora of the University of California, Davis, used a method called microdroplet digital PCR (ddPCR) to reliably and efficiently diagnose 22q11 microdeletion syndrome. The researchers mixed 26 patient samples and 1096 normal human samples and analyzed each sample using ddPCR. It turns out that the technology can accurately identify 26 patient samples with an accuracy of 100%, and the cost of a reaction. Just 5-6 dollars.
New method for Wilson's disease detection
Wilson's disease is the result of a genetic mutation in the ATP7B gene that causes liver and nerve damage and ultimately death. If diagnosed and treated early, patients with Wilson's disease can live normally. Currently, prenatal diagnosis of Wilson's disease is by collecting cells collected from fetal chorionic villus or amniocentesis. Both methods have a risk of complications such as abortion. Because the target gene is low in the maternal peripheral blood, Wilson, like other monogenic diseases, is difficult to analyze using non-invasive diagnostic methods.
"Our analysis should theoretically apply to other (non-invasive prenatal testing) disease-causing mutations, such as single nucleotide substitutions, deletions or insertions," said Dr. Wu, "In addition, cSMART may have more Widely used to accurately diagnose low-level ctc cells early in cancer and to monitor patient outcomes."
Source: Sequencing China
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