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An Automated High-Throughput Technique Suitable for Population-Based Carrier Screening for Fragile X Syndrome |
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Introduction
A recent article from Charles Strom, et al, at Quest Diagnostics shows the use of our products for detection of Fragile X syndrome, the most commonly inherited form of mental retardation, in male or female individuals. The authors developed an automated, high-throughput technique capable of detecting carriers of fragile X syndrome with 100% sensitivity and at least 99.5% specificity, and proposed the test for population-based carrier detection of this disease. Susan Darling, Applications Manager for Beckman Coulter trained the group referenced in the article on the P/ACE™ MDQ DNA applications and fraction collection (Genet Med 2007:9(4):199–207).
Summary of Automated Process
Biomek® automation for sample aliquotting and the P/ACE MDQ for DNA applications were used to develop a process called Capillary Southern Analysis (CSA) that can detect Fragile X syndrome at the FMR1 locus. The specificity of the test, dubbed PCR/CSA, was showed excellent specificity and sensitivity in detecting the CCG repeats at the FMR1 region, with no false positives in males. For these reasons, the authors suggested that PCR with CSA can provide an alternative to expensive Southern blotting in most cases where the FMR1 locus is homozygous by PCR analysis. Moreover, the authors considered that CSA could potentially replace expensive Southern blotting for many other applications, such as methylation analysis, and any epigenetic assays involving methylation assessment. The authors point to the increased throughput, lower cost, and specificity of the test, as features confirming the utility of the process for population-based carrier detection for fragile X syndrome.
The benefits of our liquid handlers and the capillary electrophoresis process are noted in this excerpt from the article:
“A complete CSA system consists of a DNA purification system, liquid-handling station, capillary electrophoresis apparatus, thermocycler, and automated DNA sequencer. This system can easily handle two plates (approximately 180 samples) in an 8-hour shift in 2 days. Therefore, with continuous flow processes, one system and a single laboratory technologist could handle 65,700 patients per year using a single 8-hour shift. Capacity could be added by simply increasing the number of complete systems in operation.”
The use of restriction enzyme digests for PCR/CSA are described here in this diagram:
For more information on the use of automation for sample aliquotting, genomic DNA extraction and the P/ACE MDQ for DNA applications in capillary electrophoresis, please contact us.
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For Research Use Only; not for use in diagnostic procedures.
Additional Information
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