UNIT 9.20 Robust Dosage PCR (RD-PCR) for Highly Accurate Dosage Analysis

  1. Vu Q. Nguyen1,2,
  2. Qiang Liu1,
  3. Steve S. Sommer1,2

Published Online: 1 JAN 2009

DOI: 10.1002/0471142905.hg0920s60

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Nguyen, V. Q., Liu, Q. and Sommer, S. S. 2009. Robust Dosage PCR (RD-PCR) for Highly Accurate Dosage Analysis. Current Protocols in Human Genetics. 60:9.20:9.20.1–9.20.12.

Author Information

  1. 1

    City of Hope National Medical Center and Beckman Research Institute, Duarte, California

  2. 2

    MEDomics, Azusa, California

Publication History

  1. Published Online: 1 JAN 2009
  2. Published Print: JAN 2009


Clinical diagnostic and epidemiological assays would benefit from accurate detection of duplications and deletions commonly missed by conventional methods of polymerase chain reaction (PCR) amplification and sequencing of individual exons. Robust dosage-PCR (RD-PCR) is a quantitative PCR method that co-amplifies a target template and an endogenous internal control (an autosomal and an X-chromosomal segment) for detection of these mutations. RD-PCR has the advantage of high accuracy and consistency, rapid assay development, widely available controls, and gene dosage over a wide dynamic range. Curr. Protoc. Hum. Genet. 60:9.20.1-9.20.12. © 2009 by John Wiley & Sons, Inc.


  • ratio of yield (ROY);
  • ratio of template (ROT);
  • GC content;
  • gene dosage