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Updated: Jul 14, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
[Genetic diagnosis of polycystic kidney disease using single cell fluorescent polymerase chain reaction]
Jin Huang1, Ping Liu, Yong-Jian Chen
1Centre of Reproductive Medicine, Peking University Third Hospital, Beijing 100083, China.
Objective:
To explore the feasibility of using single cell fluorescent polymerase chain reaction (PCR) in the preimplantation genetic diagnosis (PGD).
Method:
Single buccal cell genetic analysis was performed with fluorescent PCR of linked microsatellite D16S423, followed by electrophoresis on ABI 3730.
Result:
The amplification success rate, allele dropout rate, and diagnostic accuracy rate of the single cell fluorescent PCR were 93.3%, 10.7%, and 89.3%, respectively.
Conclusion:
Single cell fluorescent PCR is a stable and reliable approach for the PGD.
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