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Updated: Jul 4, 2026
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Rapid determination of monozygous twinning with a microfabricated capillary array electrophoresis genetic-analysis
Stephanie H I Yeung1, Igor L Medintz, Susan A Greenspoon
1UCSF/UCB Joint Graduate Group in Bioengineering, University of California, Berkeley, CA 94720, USA.
Background:
Microfabricated genetic-analysis devices have great potential for delivering complex clinical diagnostic technology to the point of care. As a demonstration of the potential of these devices, we used a microfabricated capillary array electrophoresis (microCAE) instrument to rapidly characterize the familial and genotypic relationship of twins who had been assigned fraternal (dizygous) status at birth.
Methods:
We extracted the genomic DNA from buccal samples collected from the twin sons, the parents, another sibling, and an unrelated control individual. We then carried out multiplex PCR amplification of sequences at 16 short tandem repeat loci commonly used in forensic identity testing. We simultaneously separated the amplicons from all of the individuals on a microCAE device and fluorescently detected the amplicons with single-base resolution in <30 min.
Results:
The genotypic analysis confirmed the identical status of the twins and revealed, in conjunction with the medical data, that their twin status arose from the rarer dichorionic, diamniotic process.
Conclusions:
The ability to rapidly analyze complex genetic samples with microCAE devices demonstrates that this approach can help meet the growing need for rapid genetics-based diagnostics.
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